Ignacio Blanco

Ignacio Blanco

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Ignacio Blanco

Ignacio Blanco

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Geographical Distribution of COPD Prevalence in the Americas.

COPD 2018 Jun-Aug;15(4):317-325. Epub 2018 Oct 30.

f Pneumology Department , Hospital Universitari Vall d'Hebron , Barcelona , Spain.

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https://www.tandfonline.com/doi/full/10.1080/15412555.2018.1
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http://dx.doi.org/10.1080/15412555.2018.1481936DOI Listing
August 2019

Geographic distribution of COPD prevalence in the world displayed by Geographic Information System maps.

Eur Respir J 2019 Jul 18;54(1). Epub 2019 Jul 18.

Pneumology Dept, Hospital Universitari Vall d'Hebron/Vall d'Hebron Research Institute (VHIR), CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain

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http://dx.doi.org/10.1183/13993003.00610-2019DOI Listing
July 2019

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2019 Jul 24. Epub 2019 Jul 24.

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-019-0596-9DOI Listing
July 2019

Corneal Wound Healing Effects of Mesenchymal Stem Cell Secretome Delivered Within a Viscoelastic Gel Carrier.

Stem Cells Transl Med 2019 May 15;8(5):478-489. Epub 2019 Jan 15.

Department of Ophthalmology, Byers Eye Institute at Stanford University School of Medicine, Palo Alto, California, USA.

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http://doi.wiley.com/10.1002/sctm.18-0178
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http://dx.doi.org/10.1002/sctm.18-0178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6477005PMC
May 2019

Impact of Host Genetics and Biological Response Modifiers on Respiratory Tract Infections.

Front Immunol 2019 7;10:1013. Epub 2019 May 7.

Servei de Microbiologia, Hospital Universitari Germans Trias i Pujol, Institut d'Investigació Germans Trias i Pujol, Universitat Autònoma de Barcelona, CIBER Enfermedades Respiratorias, Barcelona, Spain.

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https://www.frontiersin.org/article/10.3389/fimmu.2019.01013
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http://dx.doi.org/10.3389/fimmu.2019.01013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6513887PMC
May 2019

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas.

Stem Cell Reports 2019 Feb 31;12(2):411-426. Epub 2019 Jan 31.

Hereditary Cancer Group, Germans Trias i Pujol Research Institute (IGTP)-PMPPC-CIBERONC, Can Ruti Campus, Badalona, Barcelona 08916, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2019.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373434PMC
February 2019

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

Hered Cancer Clin Pract 2019 28;17. Epub 2019 Feb 28.

4Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, part of Oslo University Hospital, Olso, Norway.

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-019-0106-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394091PMC
February 2019

From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia.

Genet Med 2019 01 14;21(1):189-194. Epub 2018 Jun 14.

Genetics Department and Biomedical Research Institute, Hospital de Sant Pau, Center for Biomedical Research on Rare Diseases (CIBERER), and Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/s41436-018-0037-1DOI Listing
January 2019

Geographical distribution of COPD prevalence in Europe, estimated by an inverse distance weighting interpolation technique.

Int J Chron Obstruct Pulmon Dis 2018 21;13:57-67. Epub 2017 Dec 21.

Pneumology Department, Hospital Universitari Vall d'Hebron, CIBER de Enfermedades Respiratorias (CIBERES), Barcelona.

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http://dx.doi.org/10.2147/COPD.S150853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5743112PMC
September 2018

Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.

Med Clin (Barc) 2018 07 10;151(2):80.e1-80.e10. Epub 2018 Feb 10.

Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, L'Hospitalet del Llobregat, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2017.12.010DOI Listing
July 2018

Alpha-1 antitrypsin Pi*SZ genotype: estimated prevalence and number of SZ subjects worldwide.

Int J Chron Obstruct Pulmon Dis 2017 8;12:1683-1694. Epub 2017 Jun 8.

Pneumology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.2147/COPD.S137852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473482PMC
April 2018

A well-designed/conducted study on alpha-1 antitrypsin epidemiology not quoted.

Authors:
Ignacio Blanco

Eur Respir J 2018 03 8;51(3). Epub 2018 Mar 8.

Registro Español de Pacientes con Déficit de Alfa-1 antitripsina, Fundación Española del Pulmón, RESPIRA, SEPAR, Barcelona, Spain

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http://dx.doi.org/10.1183/13993003.02662-2017DOI Listing
March 2018

Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update.

Int J Chron Obstruct Pulmon Dis 2017 13;12:561-569. Epub 2017 Feb 13.

Pneumology Department, Hospital Universitari Vall d'Hebron; CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain.

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http://dx.doi.org/10.2147/COPD.S125389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5315200PMC
August 2017

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

J Clin Oncol 2016 06 25;34(18):2172-81. Epub 2016 Apr 25.

Sarah M. Nielsen and Lindsay Rhodes, The University of Chicago, Chicago, IL; Ignacio Blanco, Hospital Universitari Germans Trias i Pujol, UAB - Universitat Autònoma de Barcelona, Barcelona, Spain; Wendy K. Chung, Columbia University, New York, NY; Charis Eng, Cleveland Clinic; Charis Eng, Case Western Reserve University School of Medicine, Cleveland, OH; Eamonn R. Maher, University of Cambridge and Cambridge NIHR Biomedical Research Centre, Cambridge, United Kingdom; Stéphane Richard, Réseau National pour Cancers Rares de l'Adulte PREDIR, INCa/AP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre; Stéphane Richard, INSERM U1186, Gustave Roussy Cancer Campus, Villejuif, France; Rachel H. Giles, University Medical Center Utrecht, Regenerative Medicine Center Utrecht, Utrecht; and Rachel H. Giles, Dutch VHL Patient Organization, Gouda, the Netherlands.

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http://dx.doi.org/10.1200/JCO.2015.65.6140DOI Listing
June 2016

[Cultural scale adaptation and validation of the Spanish version of the BRCA Self-Concept Scale in women carriers at high risk for hereditary breast and ovarian cancer].

Med Clin (Barc) 2016 Feb 3;146(4):148-54. Epub 2015 Dec 3.

Programa de Cáncer Hereditario Institut d'Investigació Biomèdica de Bellvitge, Unidad de Consejo Genético, Institut Català d'Oncologia-Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona, España; Programa de Asesoramiento y Genética Clínica, Hospital Universitario Germans Trias i Pujol, Badalona, Barcelona, España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2015.09.018DOI Listing
February 2016

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.

Authors:
Ignacio Blanco Karoline Kuchenbaecker Daniel Cuadras Xianshu Wang Daniel Barrowdale Gorka Ruiz de Garibay Pablo Librado Alejandro Sánchez-Gracia Julio Rozas Núria Bonifaci Lesley McGuffog Vernon S Pankratz Abul Islam Francesca Mateo Antoni Berenguer Anna Petit Isabel Català Joan Brunet Lidia Feliubadaló Eva Tornero Javier Benítez Ana Osorio Teresa Ramón y Cajal Heli Nevanlinna Kristiina Aittomäki Banu K Arun Amanda E Toland Beth Y Karlan Christine Walsh Jenny Lester Mark H Greene Phuong L Mai Robert L Nussbaum Irene L Andrulis Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Rosa B Barkardottir Anna Jakubowska Jan Lubinski Katarzyna Durda Katarzyna Jaworska-Bieniek Kathleen Claes Tom Van Maerken Orland Díez Thomas V Hansen Lars Jønson Anne-Marie Gerdes Bent Ejlertsen Miguel de la Hoya Trinidad Caldés Alison M Dunning Clare Oliver Elena Fineberg Margaret Cook Susan Peock Emma McCann Alex Murray Chris Jacobs Gabriella Pichert Fiona Lalloo Carol Chu Huw Dorkins Joan Paterson Kai-Ren Ong Manuel R Teixeira Frans B L Hogervorst Annemarie H van der Hout Caroline Seynaeve Rob B van der Luijt Marjolijn J L Ligtenberg Peter Devilee Juul T Wijnen Matti A Rookus Hanne E J Meijers-Heijboer Marinus J Blok Ans M W van den Ouweland Cora M Aalfs Gustavo C Rodriguez Kelly-Anne A Phillips Marion Piedmonte Stacy R Nerenstone Victoria L Bae-Jump David M O'Malley Elena S Ratner Rita K Schmutzler Barbara Wappenschmidt Kerstin Rhiem Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg J Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Andrea Gehrig Anders Bojesen Inge Sokilde Pedersen Lone Sunde Uffe Birk Jensen Mads Thomassen Torben A Kruse Lenka Foretova Paolo Peterlongo Loris Bernard Bernard Peissel Giulietta Scuvera Siranoush Manoukian Paolo Radice Laura Ottini Marco Montagna Simona Agata Christine Maugard Jacques Simard Penny Soucy Andreas Berger Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Geschwantler-Kaulich Muy-Kheng Tea Georg Pfeiler Esther M John Alex Miron Susan L Neuhausen Mary Beth Terry Wendy K Chung Mary B Daly David E Goldgar Ramunas Janavicius Cecilia M Dorfling Elisabeth J van Rensburg Florentia Fostira Irene Konstantopoulou Judy Garber Andrew K Godwin Edith Olah Steven A Narod Gad Rennert Shani Shimon Paluch Yael Laitman Eitan Friedman Annelie Liljegren Johanna Rantala Marie Stenmark-Askmalm Niklas Loman Evgeny N Imyanitov Ute Hamann Amanda B Spurdle Sue Healey Jeffrey N Weitzel Josef Herzog David Margileth Chiara Gorrini Manel Esteller Antonio Gómez Sergi Sayols Enrique Vidal Holger Heyn Dominique Stoppa-Lyonnet Melanie Léoné Laure Barjhoux Marion Fassy-Colcombet Antoine de Pauw Christine Lasset Sandra Fert Ferrer Laurent Castera Pascaline Berthet François Cornelis Yves-Jean Bignon Francesca Damiola Sylvie Mazoyer Olga M Sinilnikova Christopher A Maxwell Joseph Vijai Mark Robson Noah Kauff Marina J Corines Danylko Villano Julie Cunningham Adam Lee Noralane Lindor Conxi Lázaro Douglas F Easton Kenneth Offit Georgia Chenevix-Trench Fergus J Couch Antonis C Antoniou Miguel Angel Pujana

PLoS One 2015 1;10(4):e0120020. Epub 2015 Apr 1.

Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120020PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382299PMC
December 2015

First Argentine study on alpha-1 antitrypsin deficiency in dried blood spot samples from COPD patients.

Arch Bronconeumol 2015 Nov 2;51(11):535-6. Epub 2015 Jul 2.

Neumólogo retirado, Hospital Valle del Nalón, Langreo, Asturias, España.

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http://dx.doi.org/10.1016/j.arbres.2015.05.009DOI Listing
November 2015

Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency.

J Transl Med 2015 Jul 4;13:211. Epub 2015 Jul 4.

Molecular Genetics Unit, Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III (ISCIII), Carretera Majadahonda-Pozuelo Km 2,200, 28220, Majadahonda, Madrid, Spain.

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http://link.springer.com/content/pdf/10.1186%2Fs12967-015-05
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http://www.translational-medicine.com/content/13/1/211
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http://dx.doi.org/10.1186/s12967-015-0585-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490674PMC
July 2015

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Authors:
Timothy R Rebbeck Nandita Mitra Fei Wan Olga M Sinilnikova Sue Healey Lesley McGuffog Sylvie Mazoyer Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou Katherine L Nathanson Yael Laitman Anya Kushnir Shani Paluch-Shimon Raanan Berger Jamal Zidan Eitan Friedman Hans Ehrencrona Marie Stenmark-Askmalm Zakaria Einbeigi Niklas Loman Katja Harbst Johanna Rantala Beatrice Melin Dezheng Huo Olufunmilayo I Olopade Joyce Seldon Patricia A Ganz Robert L Nussbaum Salina B Chan Kunle Odunsi Simon A Gayther Susan M Domchek Banu K Arun Karen H Lu Gillian Mitchell Beth Y Karlan Christine Walsh Jenny Lester Andrew K Godwin Harsh Pathak Eric Ross Mary B Daly Alice S Whittemore Esther M John Alexander Miron Mary Beth Terry Wendy K Chung David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Susan L Neuhausen Yuan Chun Ding Bent Ejlertsen Anne-Marie Gerdes Thomas v O Hansen Teresa Ramón y Cajal Ana Osorio Javier Benitez Javier Godino Maria-Isabel Tejada Mercedes Duran Jeffrey N Weitzel Kristie A Bobolis Sharon R Sand Annette Fontaine Antonella Savarese Barbara Pasini Bernard Peissel Bernardo Bonanni Daniela Zaffaroni Francesca Vignolo-Lutati Giulietta Scuvera Giuseppe Giannini Loris Bernard Maurizio Genuardi Paolo Radice Riccardo Dolcetti Siranoush Manoukian Valeria Pensotti Viviana Gismondi Drakoulis Yannoukakos Florentia Fostira Judy Garber Diana Torres Muhammad Usman Rashid Ute Hamann Susan Peock Debra Frost Radka Platte D Gareth Evans Rosalind Eeles Rosemarie Davidson Diana Eccles Trevor Cole Jackie Cook Carole Brewer Shirley Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Louise Izatt Julian Adlard Alan Donaldson Steve Ellis Priyanka Sharma Rita Katharina Schmutzler Barbara Wappenschmidt Alexandra Becker Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Stefanie Engert Nina Ditsch Norbert Arnold Hans Jörg Plendl Christoph Mundhenke Dieter Niederacher Markus Fleisch Christian Sutter C R Bartram Nicola Dikow Shan Wang-Gohrke Dorothea Gadzicki Doris Steinemann Karin Kast Marit Beer Raymonda Varon-Mateeva Andrea Gehrig Bernhard H Weber Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Claude Houdayer Muriel Belotti Marion Gauthier-Villars Francesca Damiola Nadia Boutry-Kryza Christine Lasset Hagay Sobol Jean-Philippe Peyrat Danièle Muller Jean-Pierre Fricker Marie-Agnès Collonge-Rame Isabelle Mortemousque Catherine Nogues Etienne Rouleau Claudine Isaacs Anne De Paepe Bruce Poppe Kathleen Claes Kim De Leeneer Marion Piedmonte Gustavo Rodriguez Katie Wakely John Boggess Stephanie V Blank Jack Basil Masoud Azodi Kelly-Anne Phillips Trinidad Caldes Miguel de la Hoya Atocha Romero Heli Nevanlinna Kristiina Aittomäki Annemarie H van der Hout Frans B L Hogervorst Senno Verhoef J Margriet Collée Caroline Seynaeve Jan C Oosterwijk Johannes J P Gille Juul T Wijnen Encarna B Gómez Garcia Carolien M Kets Margreet G E M Ausems Cora M Aalfs Peter Devilee Arjen R Mensenkamp Ava Kwong Edith Olah Janos Papp Orland Diez Conxi Lazaro Esther Darder Ignacio Blanco Mónica Salinas Anna Jakubowska Jan Lubinski Jacek Gronwald Katarzyna Jaworska-Bieniek Katarzyna Durda Grzegorz Sukiennicki Tomasz Huzarski Tomasz Byrski Cezary Cybulski Aleksandra Toloczko-Grabarek Elżbieta Złowocka-Perłowska Janusz Menkiszak Adalgeir Arason Rosa B Barkardottir Jacques Simard Rachel Laframboise Marco Montagna Simona Agata Elisa Alducci Ana Peixoto Manuel R Teixeira Amanda B Spurdle Min Hyuk Lee Sue K Park Sung-Won Kim Tara M Friebel Fergus J Couch Noralane M Lindor Vernon S Pankratz Lucia Guidugli Xianshu Wang Marc Tischkowitz Lenka Foretova Joseph Vijai Kenneth Offit Mark Robson Rohini Rau-Murthy Noah Kauff Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Andreas Berger Mark H Greene Phuong L Mai Evgeny N Imyanitov Amanda Ewart Toland Leigha Senter Anders Bojesen Inge Sokilde Pedersen Anne-Bine Skytte Lone Sunde Mads Thomassen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Maria Adelaide Caligo Paolo Aretini Soo-Hwang Teo Christina G Selkirk Peter J Hulick Irene Andrulis

JAMA 2015 Apr;313(13):1347-61

Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1001/jama.2014.5985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537700PMC
April 2015

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.

Authors:
Sophie Blein Claire Bardel Vincent Danjean Lesley McGuffog Sue Healey Daniel Barrowdale Andrew Lee Joe Dennis Karoline B Kuchenbaecker Penny Soucy Mary Beth Terry Wendy K Chung David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Susan L Neuhausen Yuan Chun Ding Anne-Marie Gerdes Bent Ejlertsen Finn C Nielsen Thomas Vo Hansen Ana Osorio Javier Benitez Raquel Andrés Conejero Ena Segota Jeffrey N Weitzel Margo Thelander Paolo Peterlongo Paolo Radice Valeria Pensotti Riccardo Dolcetti Bernardo Bonanni Bernard Peissel Daniela Zaffaroni Giulietta Scuvera Siranoush Manoukian Liliana Varesco Gabriele L Capone Laura Papi Laura Ottini Drakoulis Yannoukakos Irene Konstantopoulou Judy Garber Ute Hamann Alan Donaldson Angela Brady Carole Brewer Claire Foo D Gareth Evans Debra Frost Diana Eccles Fiona Douglas Jackie Cook Julian Adlard Julian Barwell Lisa Walker Louise Izatt Lucy E Side M John Kennedy Marc Tischkowitz Mark T Rogers Mary E Porteous Patrick J Morrison Radka Platte Ros Eeles Rosemarie Davidson Shirley Hodgson Trevor Cole Andrew K Godwin Claudine Isaacs Kathleen Claes Kim De Leeneer Alfons Meindl Andrea Gehrig Barbara Wappenschmidt Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Hansjoerg Plendl Karin Kast Kerstin Rhiem Nina Ditsch Norbert Arnold Raymonda Varon-Mateeva Rita K Schmutzler Sabine Preisler-Adams Nadja Bogdanova Markov Shan Wang-Gohrke Antoine de Pauw Cédrick Lefol Christine Lasset Dominique Leroux Etienne Rouleau Francesca Damiola Hélène Dreyfus Laure Barjhoux Lisa Golmard Nancy Uhrhammer Valérie Bonadona Valérie Sornin Yves-Jean Bignon Jonathan Carter Linda Van Le Marion Piedmonte Paul A DiSilvestro Miguel de la Hoya Trinidad Caldes Heli Nevanlinna Kristiina Aittomäki Agnes Jager Ans Mw van den Ouweland Carolien M Kets Cora M Aalfs Flora E van Leeuwen Frans Bl Hogervorst Hanne Ej Meijers-Heijboer Jan C Oosterwijk Kees Ep van Roozendaal Matti A Rookus Peter Devilee Rob B van der Luijt Edith Olah Orland Diez Alex Teulé Conxi Lazaro Ignacio Blanco Jesús Del Valle Anna Jakubowska Grzegorz Sukiennicki Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska-Bieniek Bjarni A Agnarsson Christine Maugard Alberto Amadori Marco Montagna Manuel R Teixeira Amanda B Spurdle William Foulkes Curtis Olswold Noralane M Lindor Vernon S Pankratz Csilla I Szabo Anne Lincoln Lauren Jacobs Marina Corines Mark Robson Joseph Vijai Andreas Berger Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Geschwantler Kaulich Georg Pfeiler Muy-Kheng Tea Mark H Greene Phuong L Mai Gad Rennert Evgeny N Imyanitov Anna Marie Mulligan Gord Glendon Irene L Andrulis Sandrine Tchatchou Amanda Ewart Toland Inge Sokilde Pedersen Mads Thomassen Torben A Kruse Uffe Birk Jensen Maria A Caligo Eitan Friedman Jamal Zidan Yael Laitman Annika Lindblom Beatrice Melin Brita Arver Niklas Loman Richard Rosenquist Olufunmilayo I Olopade Robert L Nussbaum Susan J Ramus Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Banu K Arun Gillian Mitchell Beth Y Karlan Jenny Lester Sandra Orsulic Dominique Stoppa-Lyonnet Gilles Thomas Jacques Simard Fergus J Couch Kenneth Offit Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Sylvie Mazoyer Catherine M Phelan Olga M Sinilnikova David G Cox

Breast Cancer Res 2015 Apr 25;17:61. Epub 2015 Apr 25.

INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.

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http://dx.doi.org/10.1186/s13058-015-0567-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478717PMC
April 2015

Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer.

Clin Cancer Res 2015 Feb 14;21(3):652-7. Epub 2014 Nov 14.

Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, United Kingdom.

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http://clincancerres.aacrjournals.org/content/early/2015/01/
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http://clincancerres.aacrjournals.org/content/21/3/652.full.
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http://clincancerres.aacrjournals.org/cgi/doi/10.1158/1078-0
Publisher Site
http://dx.doi.org/10.1158/1078-0432.CCR-14-2497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338615PMC
February 2015

Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Authors:
Karoline B Kuchenbaecker Susan J Ramus Jonathan Tyrer Andrew Lee Howard C Shen Jonathan Beesley Kate Lawrenson Lesley McGuffog Sue Healey Janet M Lee Tassja J Spindler Yvonne G Lin Tanja Pejovic Yukie Bean Qiyuan Li Simon Coetzee Dennis Hazelett Alexander Miron Melissa Southey Mary Beth Terry David E Goldgar Saundra S Buys Ramunas Janavicius Cecilia M Dorfling Elizabeth J van Rensburg Susan L Neuhausen Yuan Chun Ding Thomas V O Hansen Lars Jønson Anne-Marie Gerdes Bent Ejlertsen Daniel Barrowdale Joe Dennis Javier Benitez Ana Osorio Maria Jose Garcia Ian Komenaka Jeffrey N Weitzel Pamela Ganschow Paolo Peterlongo Loris Bernard Alessandra Viel Bernardo Bonanni Bernard Peissel Siranoush Manoukian Paolo Radice Laura Papi Laura Ottini Florentia Fostira Irene Konstantopoulou Judy Garber Debra Frost Jo Perkins Radka Platte Steve Ellis Andrew K Godwin Rita Katharina Schmutzler Alfons Meindl Christoph Engel Christian Sutter Olga M Sinilnikova Francesca Damiola Sylvie Mazoyer Dominique Stoppa-Lyonnet Kathleen Claes Kim De Leeneer Judy Kirk Gustavo C Rodriguez Marion Piedmonte David M O'Malley Miguel de la Hoya Trinidad Caldes Kristiina Aittomäki Heli Nevanlinna J Margriet Collée Matti A Rookus Jan C Oosterwijk Laima Tihomirova Nadine Tung Ute Hamann Claudine Isaccs Marc Tischkowitz Evgeny N Imyanitov Maria A Caligo Ian G Campbell Frans B L Hogervorst Edith Olah Orland Diez Ignacio Blanco Joan Brunet Conxi Lazaro Miquel Angel Pujana Anna Jakubowska Jacek Gronwald Jan Lubinski Grzegorz Sukiennicki Rosa B Barkardottir Marie Plante Jacques Simard Penny Soucy Marco Montagna Silvia Tognazzo Manuel R Teixeira Vernon S Pankratz Xianshu Wang Noralane Lindor Csilla I Szabo Noah Kauff Joseph Vijai Carol A Aghajanian Georg Pfeiler Andreas Berger Christian F Singer Muy-Kheng Tea Catherine M Phelan Mark H Greene Phuong L Mai Gad Rennert Anna Marie Mulligan Sandrine Tchatchou Irene L Andrulis Gord Glendon Amanda Ewart Toland Uffe Birk Jensen Torben A Kruse Mads Thomassen Anders Bojesen Jamal Zidan Eitan Friedman Yael Laitman Maria Soller Annelie Liljegren Brita Arver Zakaria Einbeigi Marie Stenmark-Askmalm Olufunmilayo I Olopade Robert L Nussbaum Timothy R Rebbeck Katherine L Nathanson Susan M Domchek Karen H Lu Beth Y Karlan Christine Walsh Jenny Lester Alexander Hein Arif B Ekici Matthias W Beckmann Peter A Fasching Diether Lambrechts Els Van Nieuwenhuysen Ignace Vergote Sandrina Lambrechts Ed Dicks Jennifer A Doherty Kristine G Wicklund Mary Anne Rossing Anja Rudolph Jenny Chang-Claude Shan Wang-Gohrke Ursula Eilber Kirsten B Moysich Kunle Odunsi Lara Sucheston Shashi Lele Lynne R Wilkens Marc T Goodman Pamela J Thompson Yurii B Shvetsov Ingo B Runnebaum Matthias Dürst Peter Hillemanns Thilo Dörk Natalia Antonenkova Natalia Bogdanova Arto Leminen Liisa M Pelttari Ralf Butzow Francesmary Modugno Joseph L Kelley Robert P Edwards Roberta B Ness Andreas du Bois Florian Heitz Ira Schwaab Philipp Harter Keitaro Matsuo Satoyo Hosono Sandra Orsulic Allan Jensen Susanne Kruger Kjaer Estrid Hogdall Hanis Nazihah Hasmad Mat Adenan Noor Azmi Soo-Hwang Teo Yin-Ling Woo Brooke L Fridley Ellen L Goode Julie M Cunningham Robert A Vierkant Fiona Bruinsma Graham G Giles Dong Liang Michelle A T Hildebrandt Xifeng Wu Douglas A Levine Maria Bisogna Andrew Berchuck Edwin S Iversen Joellen M Schildkraut Patrick Concannon Rachel Palmieri Weber Daniel W Cramer Kathryn L Terry Elizabeth M Poole Shelley S Tworoger Elisa V Bandera Irene Orlow Sara H Olson Camilla Krakstad Helga B Salvesen Ingvild L Tangen Line Bjorge Anne M van Altena Katja K H Aben Lambertus A Kiemeney Leon F A G Massuger Melissa Kellar Angela Brooks-Wilson Linda E Kelemen Linda S Cook Nhu D Le Cezary Cybulski Hannah Yang Jolanta Lissowska Louise A Brinton Nicolas Wentzensen Claus Hogdall Lene Lundvall Lotte Nedergaard Helen Baker Honglin Song Diana Eccles Ian McNeish James Paul Karen Carty Nadeem Siddiqui Rosalind Glasspool Alice S Whittemore Joseph H Rothstein Valerie McGuire Weiva Sieh Bu-Tian Ji Wei Zheng Xiao-Ou Shu Yu-Tang Gao Barry Rosen Harvey A Risch John R McLaughlin Steven A Narod Alvaro N Monteiro Ann Chen Hui-Yi Lin Jenny Permuth-Wey Thomas A Sellers Ya-Yu Tsai Zhihua Chen Argyrios Ziogas Hoda Anton-Culver Aleksandra Gentry-Maharaj Usha Menon Patricia Harrington Alice W Lee Anna H Wu Celeste L Pearce Gerry Coetzee Malcolm C Pike Agnieszka Dansonka-Mieszkowska Agnieszka Timorek Iwona K Rzepecka Jolanta Kupryjanczyk Matt Freedman Houtan Noushmehr Douglas F Easton Kenneth Offit Fergus J Couch Simon Gayther Paul P Pharoah Antonis C Antoniou Georgia Chenevix-Trench

Nat Genet 2015 Feb 12;47(2):164-71. Epub 2015 Jan 12.

Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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February 2015

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Paolo Peterlongo Jenny Chang-Claude Kirsten B Moysich Anja Rudolph Rita K Schmutzler Jacques Simard Penny Soucy Rosalind A Eeles Douglas F Easton Ute Hamann Stefan Wilkening Bowang Chen Matti A Rookus Marjanka K Schmidt Frederieke H van der Baan Amanda B Spurdle Logan C Walker Felicity Lose Ana-Teresa Maia Marco Montagna Laura Matricardi Jan Lubinski Anna Jakubowska Encarna B Gómez Garcia Olufunmilayo I Olopade Robert L Nussbaum Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Banu K Arun Beth Y Karlan Sandra Orsulic Jenny Lester Wendy K Chung Alex Miron Melissa C Southey David E Goldgar Saundra S Buys Ramunas Janavicius Cecilia M Dorfling Elizabeth J van Rensburg Yuan Chun Ding Susan L Neuhausen Thomas V O Hansen Anne-Marie Gerdes Bent Ejlertsen Lars Jønson Ana Osorio Cristina Martínez-Bouzas Javier Benitez Edye E Conway Kathleen R Blazer Jeffrey N Weitzel Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Giulietta Scuvera Monica Barile Filomena Ficarazzi Frederique Mariette Stefano Fortuzzi Alessandra Viel Giuseppe Giannini Laura Papi Aline Martayan Maria Grazia Tibiletti Paolo Radice Athanassios Vratimos Florentia Fostira Judy E Garber Alan Donaldson Carole Brewer Claire Foo D Gareth R Evans Debra Frost Diana Eccles Angela Brady Jackie Cook Marc Tischkowitz Julian Adlard Julian Barwell Lisa Walker Louise Izatt Lucy E Side M John Kennedy Mark T Rogers Mary E Porteous Patrick J Morrison Radka Platte Rosemarie Davidson Shirley V Hodgson Steve Ellis Trevor Cole Andrew K Godwin Kathleen Claes Tom Van Maerken Alfons Meindl Andrea Gehrig Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Hansjoerg Plendl Karin Kast Kerstin Rhiem Nina Ditsch Norbert Arnold Raymonda Varon-Mateeva Barbara Wappenschmidt Shan Wang-Gohrke Brigitte Bressac-de Paillerets Bruno Buecher Capucine Delnatte Claude Houdayer Dominique Stoppa-Lyonnet Francesca Damiola Isabelle Coupier Laure Barjhoux Laurence Venat-Bouvet Lisa Golmard Nadia Boutry-Kryza Olga M Sinilnikova Olivier Caron Pascal Pujol Sylvie Mazoyer Muriel Belotti Marion Piedmonte Michael L Friedlander Gustavo C Rodriguez Larry J Copeland Miguel de la Hoya Pedro Perez Segura Heli Nevanlinna Kristiina Aittomäki Theo A M van Os Hanne E J Meijers-Heijboer Annemarie H van der Hout Maaike P G Vreeswijk Nicoline Hoogerbrugge Margreet G E M Ausems Helena C van Doorn J Margriet Collée Edith Olah Orland Diez Ignacio Blanco Conxi Lazaro Joan Brunet Lidia Feliubadalo Cezary Cybulski Jacek Gronwald Katarzyna Durda Katarzyna Jaworska-Bieniek Grzegorz Sukiennicki Adalgeir Arason Jocelyne Chiquette Manuel R Teixeira Curtis Olswold Fergus J Couch Noralane M Lindor Xianshu Wang Csilla I Szabo Kenneth Offit Marina Corines Lauren Jacobs Mark E Robson Liying Zhang Vijai Joseph Andreas Berger Christian F Singer Christine Rappaport Daphne Geschwantler Kaulich Georg Pfeiler Muy-Kheng M Tea Catherine M Phelan Mark H Greene Phuong L Mai Gad Rennert Anna Marie Mulligan Gord Glendon Sandrine Tchatchou Irene L Andrulis Amanda Ewart Toland Anders Bojesen Inge Sokilde Pedersen Mads Thomassen Uffe Birk Jensen Yael Laitman Johanna Rantala Anna von Wachenfeldt Hans Ehrencrona Marie Stenmark Askmalm Åke Borg Karoline B Kuchenbaecker Lesley McGuffog Daniel Barrowdale Sue Healey Andrew Lee Paul D P Pharoah Georgia Chenevix-Trench Antonis C Antoniou Eitan Friedman

Cancer Epidemiol Biomarkers Prev 2015 Jan 21;24(1):308-16. Epub 2014 Oct 21.

Sheba Medical Center, Tel Aviv, Israel.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294951PMC
January 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.

Authors:
Karoline B Kuchenbaecker Susan L Neuhausen Mark Robson Daniel Barrowdale Lesley McGuffog Anna Marie Mulligan Irene L Andrulis Amanda B Spurdle Marjanka K Schmidt Rita K Schmutzler Christoph Engel Barbara Wappenschmidt Heli Nevanlinna Mads Thomassen Melissa Southey Paolo Radice Susan J Ramus Susan M Domchek Katherine L Nathanson Andrew Lee Sue Healey Robert L Nussbaum Timothy R Rebbeck Banu K Arun Paul James Beth Y Karlan Jenny Lester Ilana Cass Mary Beth Terry Mary B Daly David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Thomas v O Hansen Bent Ejlertsen Anne-Marie Gerdes Finn C Nielsen Joe Dennis Julie Cunningham Steven Hart Susan Slager Ana Osorio Javier Benitez Mercedes Duran Jeffrey N Weitzel Isaac Tafur Mary Hander Paolo Peterlongo Siranoush Manoukian Bernard Peissel Gaia Roversi Giulietta Scuvera Bernardo Bonanni Paolo Mariani Sara Volorio Riccardo Dolcetti Liliana Varesco Laura Papi Maria Grazia Tibiletti Giuseppe Giannini Florentia Fostira Irene Konstantopoulou Judy Garber Ute Hamann Alan Donaldson Carole Brewer Claire Foo D Gareth Evans Debra Frost Diana Eccles Fiona Douglas Angela Brady Jackie Cook Marc Tischkowitz Julian Adlard Julian Barwell Kai-ren Ong Lisa Walker Louise Izatt Lucy E Side M John Kennedy Mark T Rogers Mary E Porteous Patrick J Morrison Radka Platte Ros Eeles Rosemarie Davidson Shirley Hodgson Steve Ellis Andrew K Godwin Kerstin Rhiem Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg Plendl Dieter Niederacher Christian Sutter Doris Steinemann Nadja Bogdanova-Markov Karin Kast Raymonda Varon-Mateeva Shan Wang-Gohrke Andrea Gehrig Birgid Markiefka Bruno Buecher Cédrick Lefol Dominique Stoppa-Lyonnet Etienne Rouleau Fabienne Prieur Francesca Damiola Laure Barjhoux Laurence Faivre Michel Longy Nicolas Sevenet Olga M Sinilnikova Sylvie Mazoyer Valérie Bonadona Virginie Caux-Moncoutier Claudine Isaacs Tom Van Maerken Kathleen Claes Marion Piedmonte Lesley Andrews John Hays Gustavo C Rodriguez Trinidad Caldes Miguel de la Hoya Sofia Khan Frans B L Hogervorst Cora M Aalfs J L de Lange Hanne E J Meijers-Heijboer Annemarie H van der Hout Juul T Wijnen K E P van Roozendaal Arjen R Mensenkamp Ans M W van den Ouweland Carolien H M van Deurzen Rob B van der Luijt Edith Olah Orland Diez Conxi Lazaro Ignacio Blanco Alex Teulé Mireia Menendez Anna Jakubowska Jan Lubinski Cezary Cybulski Jacek Gronwald Katarzyna Jaworska-Bieniek Katarzyna Durda Adalgeir Arason Christine Maugard Penny Soucy Marco Montagna Simona Agata Manuel R Teixeira Curtis Olswold Noralane Lindor Vernon S Pankratz Emily Hallberg Xianshu Wang Csilla I Szabo Joseph Vijai Lauren Jacobs Marina Corines Anne Lincoln Andreas Berger Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Gschwantler Kaulich Georg Pfeiler Muy-Kheng Tea Catherine M Phelan Phuong L Mai Mark H Greene Gad Rennert Evgeny N Imyanitov Gord Glendon Amanda Ewart Toland Anders Bojesen Inge Sokilde Pedersen Uffe Birk Jensen Maria A Caligo Eitan Friedman Raanan Berger Yael Laitman Johanna Rantala Brita Arver Niklas Loman Ake Borg Hans Ehrencrona Olufunmilayo I Olopade Jacques Simard Douglas F Easton Georgia Chenevix-Trench Kenneth Offit Fergus J Couch Antonis C Antoniou

Breast Cancer Res 2014 Dec 31;16(6):3416. Epub 2014 Dec 31.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406179PMC
December 2014

Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases.

J Community Genet 2014 Oct 4;5(4):337-47. Epub 2014 Jun 4.

Department of Clinical Genetics, EMGO Institute for Health and Care Research, VU University Medical Center (BS7, D450), PO Box 7057, 1007, Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159469PMC
October 2014

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.

Respir Res 2014 Oct 7;15:125. Epub 2014 Oct 7.

Molecular Genetics Unit, Instituto de Investigación en Enfermedades Raras (IIER), Instituto de Salud Carlos III (ISCIII), Carretera Majadahonda-Pozuelo Km 2,200, Majadahonda, Madrid 28220, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194419PMC
October 2014

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study.

Authors:
Elizabeth K Bancroft Elizabeth C Page Elena Castro Hans Lilja Andrew Vickers Daniel Sjoberg Melissa Assel Christopher S Foster Gillian Mitchell Kate Drew Lovise Mæhle Karol Axcrona D Gareth Evans Barbara Bulman Diana Eccles Donna McBride Christi van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Christina Selkirk Peter J Hulick Anders Bojesen Anne-Bine Skytte Jimmy Lam Louise Taylor Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Ignacio Blanco Monica Salinas Jackie Cook Derek J Rosario Saundra Buys Tom Conner Margreet G Ausems Kai-ren Ong Jonathan Hoffman Susan Domchek Jacquelyn Powers Manuel R Teixeira Sofia Maia William D Foulkes Nassim Taherian Marielle Ruijs Apollonia T Helderman-van den Enden Louise Izatt Rosemarie Davidson Muriel A Adank Lisa Walker Rita Schmutzler Kathy Tucker Judy Kirk Shirley Hodgson Marion Harris Fiona Douglas Geoffrey J Lindeman Janez Zgajnar Marc Tischkowitz Virginia E Clowes Rachel Susman Teresa Ramón y Cajal Nicholas Patcher Neus Gadea Allan Spigelman Theo van Os Annelie Liljegren Lucy Side Carole Brewer Angela F Brady Alan Donaldson Vigdis Stefansdottir Eitan Friedman Rakefet Chen-Shtoyerman David J Amor Lucia Copakova Julian Barwell Veda N Giri Vedang Murthy Nicola Nicolai Soo-Hwang Teo Lynn Greenhalgh Sara Strom Alex Henderson John McGrath David Gallagher Neil Aaronson Audrey Ardern-Jones Chris Bangma David Dearnaley Philandra Costello Jorunn Eyfjord Jeanette Rothwell Alison Falconer Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Zsofia Kote-Jarai Jan Lubinski Ulrika Axcrona Jane Melia Joanne McKinley Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Penny Wilson Emma Killick Sue Moss Rosalind A Eeles

Eur Urol 2014 Sep 15;66(3):489-99. Epub 2014 Jan 15.

Oncogenetics Team, Institute of Cancer Research, London, UK; Cancer Genetics Unit and Academic Urology Unit, Royal Marsden NHS Foundation Trust, London, UK. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105321PMC
September 2014

Comprehensive molecular characterisation of hereditary non-polyposis colorectal tumours with mismatch repair proficiency.

Eur J Cancer 2014 Jul 16;50(11):1964-72. Epub 2014 May 16.

Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain. Electronic address:

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July 2014

Serum concentration of alpha-1 antitrypsin is significantly higher in colorectal cancer patients than in healthy controls.

BMC Cancer 2014 May 21;14:355. Epub 2014 May 21.

General Surgery Department, Hospital Valle del Nalón, 33920 Langreo, Principality of Asturias, Spain.

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http://dx.doi.org/10.1186/1471-2407-14-355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032587PMC
May 2014

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Ana Osorio Roger L Milne Karoline Kuchenbaecker Tereza Vaclová Guillermo Pita Rosario Alonso Paolo Peterlongo Ignacio Blanco Miguel de la Hoya Mercedes Duran Orland Díez Teresa Ramón Y Cajal Irene Konstantopoulou Cristina Martínez-Bouzas Raquel Andrés Conejero Penny Soucy Lesley McGuffog Daniel Barrowdale Andrew Lee Swe-Brca Brita Arver Johanna Rantala Niklas Loman Hans Ehrencrona Olufunmilayo I Olopade Mary S Beattie Susan M Domchek Katherine Nathanson Timothy R Rebbeck Banu K Arun Beth Y Karlan Christine Walsh Jenny Lester Esther M John Alice S Whittemore Mary B Daly Melissa Southey John Hopper Mary B Terry Saundra S Buys Ramunas Janavicius Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Susan L Neuhausen Yuan Chun Ding Thomas V O Hansen Lars Jønson Bent Ejlertsen Anne-Marie Gerdes Mar Infante Belén Herráez Leticia Thais Moreno Jeffrey N Weitzel Josef Herzog Kisa Weeman Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Giulietta Scuvera Bernardo Bonanni Frederique Mariette Sara Volorio Alessandra Viel Liliana Varesco Laura Papi Laura Ottini Maria Grazia Tibiletti Paolo Radice Drakoulis Yannoukakos Judy Garber Steve Ellis Debra Frost Radka Platte Elena Fineberg Gareth Evans Fiona Lalloo Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Diana Eccles Jackie Cook Shirley Hodgson Carole Brewer Marc Tischkowitz Fiona Douglas Mary Porteous Lucy Side Lisa Walker Patrick Morrison Alan Donaldson John Kennedy Claire Foo Andrew K Godwin Rita Katharina Schmutzler Barbara Wappenschmidt Kerstin Rhiem Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hans Jörg Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Andrea Gehrig Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Francesca Damiola Bruce Poppe Kathleen Claes Marion Piedmonte Kathy Tucker Floor Backes Gustavo Rodríguez Wendy Brewster Katie Wakeley Thomas Rutherford Trinidad Caldés Heli Nevanlinna Kristiina Aittomäki Matti A Rookus Theo A M van Os Lizet van der Kolk J L de Lange Hanne E J Meijers-Heijboer A H van der Hout Christi J van Asperen Encarna B Gómez Garcia Nicoline Hoogerbrugge J Margriet Collée Carolien H M van Deurzen Rob B van der Luijt Peter Devilee Hebon Edith Olah Conxi Lázaro Alex Teulé Mireia Menéndez Anna Jakubowska Cezary Cybulski Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska-Bieniek Oskar Th Johannsson Christine Maugard Marco Montagna Silvia Tognazzo Manuel R Teixeira Sue Healey Kconfab Investigators Curtis Olswold Lucia Guidugli Noralane Lindor Susan Slager Csilla I Szabo Joseph Vijai Mark Robson Noah Kauff Liying Zhang Rohini Rau-Murthy Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Geschwantler Kaulich Georg Pfeiler Muy-Kheng Tea Andreas Berger Catherine M Phelan Mark H Greene Phuong L Mai Flavio Lejbkowicz Irene Andrulis Anna Marie Mulligan Gord Glendon Amanda Ewart Toland Anders Bojesen Inge Sokilde Pedersen Lone Sunde Mads Thomassen Torben A Kruse Uffe Birk Jensen Eitan Friedman Yael Laitman Shani Paluch Shimon Jacques Simard Douglas F Easton Kenneth Offit Fergus J Couch Georgia Chenevix-Trench Antonis C Antoniou Javier Benitez

PLoS Genet 2014 Apr 3;10(4):e1004256. Epub 2014 Apr 3.

Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain; Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain; Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.

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April 2014

Oxidant-mediated aggregation of Z α1-antitrypsin in pulmonary epithelial cells amplifies lung inflammation.

Authors:
Ignacio Blanco

Am J Respir Crit Care Med 2014 Apr;189(8):877-9

1 Lung Foundation Breathe Spanish Society of Pneumology Barcelona, Spain.

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April 2014

GALNT12 is not a major contributor of familial colorectal cancer type X.

Hum Mutat 2014 Jan 17;35(1):50-2. Epub 2013 Oct 17.

Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Spain.

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January 2014

An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition.

Eur J Hum Genet 2013 Dec 27;21(12):1389-95. Epub 2013 Mar 27.

1] CSIRO, Preventative Health National Research Flagship, North Ryde, NSW, Australia [2] Animal, Food and Health Sciences, CSIRO, North Ryde, NSW, Australia.

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http://dx.doi.org/10.1038/ejhg.2013.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831072PMC
December 2013

Functional and structural analysis of C-terminal BRCA1 missense variants.

PLoS One 2013 17;8(4):e61302. Epub 2013 Apr 17.

Hereditary Cancer Program, Catalan Institute of Oncology-Bellvitge Institute for Biomedical Research, Girona Institute for Biomedical Research, Germans Trial i Pujol Research Institute, ICO-IDIBELL, ICO-IdIBGi, ICO-IGTP, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629201PMC
November 2013

Telomere length and genetic anticipation in Lynch syndrome.

PLoS One 2013 23;8(4):e61286. Epub 2013 Apr 23.

Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634050PMC
November 2013

Clinical impact of a gluten-free diet on health-related quality of life in seven fibromyalgia syndrome patients with associated celiac disease.

BMC Gastroenterol 2013 Nov 9;13:157. Epub 2013 Nov 9.

Gastroenterology, Central University Hospital of Asturias (HUCA), Celestino Villamil, s/n, 33006, Oviedo, Principality of Asturias, Spain.

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http://dx.doi.org/10.1186/1471-230X-13-157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835396PMC
November 2013

[Hyperplastic polyposis syndrome: phenotypic diversity and association to colorectal cancer].

Med Clin (Barc) 2013 Jul 17;141(2):62-6. Epub 2012 Jul 17.

Programa de Cáncer Hereditario, Unidad de Consejo Genético, Institut Català d'Oncologia, L'Hospitalet de Llobregat, Barcelona, España.

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July 2013

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.

Eur J Hum Genet 2013 Jul 28;21(7):769-73. Epub 2012 Nov 28.

Hereditary Cancer Program, Institute of Predictive and Personalized Medicine of Cancer (IMPPC), Badalona, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722955PMC
July 2013

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.

Authors:
Mia M Gaudet Karoline B Kuchenbaecker Joseph Vijai Robert J Klein Tomas Kirchhoff Lesley McGuffog Daniel Barrowdale Alison M Dunning Andrew Lee Joe Dennis Sue Healey Ed Dicks Penny Soucy Olga M Sinilnikova Vernon S Pankratz Xianshu Wang Ronald C Eldridge Daniel C Tessier Daniel Vincent Francois Bacot Frans B L Hogervorst Susan Peock Dominique Stoppa-Lyonnet Paolo Peterlongo Rita K Schmutzler Katherine L Nathanson Marion Piedmonte Christian F Singer Mads Thomassen Thomas v O Hansen Susan L Neuhausen Ignacio Blanco Mark H Greene Judith Garber Jeffrey N Weitzel Irene L Andrulis David E Goldgar Emma D'Andrea Trinidad Caldes Heli Nevanlinna Ana Osorio Elizabeth J van Rensburg Adalgeir Arason Gad Rennert Ans M W van den Ouweland Annemarie H van der Hout Carolien M Kets Cora M Aalfs Juul T Wijnen Margreet G E M Ausems Debra Frost Steve Ellis Elena Fineberg Radka Platte D Gareth Evans Chris Jacobs Julian Adlard Marc Tischkowitz Mary E Porteous Francesca Damiola Lisa Golmard Laure Barjhoux Michel Longy Muriel Belotti Sandra Fert Ferrer Sylvie Mazoyer Amanda B Spurdle Siranoush Manoukian Monica Barile Maurizio Genuardi Norbert Arnold Alfons Meindl Christian Sutter Barbara Wappenschmidt Susan M Domchek Georg Pfeiler Eitan Friedman Uffe Birk Jensen Mark Robson Sohela Shah Conxi Lazaro Phuong L Mai Javier Benitez Melissa C Southey Marjanka K Schmidt Peter A Fasching Julian Peto Manjeet K Humphreys Qin Wang Kyriaki Michailidou Elinor J Sawyer Barbara Burwinkel Pascal Guénel Stig E Bojesen Roger L Milne Hermann Brenner Magdalena Lochmann Kristiina Aittomäki Thilo Dörk Sara Margolin Arto Mannermaa Diether Lambrechts Jenny Chang-Claude Paolo Radice Graham G Giles Christopher A Haiman Robert Winqvist Peter Devillee Montserrat García-Closas Nils Schoof Maartje J Hooning Angela Cox Paul D P Pharoah Anna Jakubowska Nick Orr Anna González-Neira Guillermo Pita M Rosario Alonso Per Hall Fergus J Couch Jacques Simard David Altshuler Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Kenneth Offit

PLoS Genet 2013 27;9(3):e1003173. Epub 2013 Mar 27.

Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609647PMC
June 2013

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

Authors:
Fergus J Couch Xianshu Wang Lesley McGuffog Andrew Lee Curtis Olswold Karoline B Kuchenbaecker Penny Soucy Zachary Fredericksen Daniel Barrowdale Joe Dennis Mia M Gaudet Ed Dicks Matthew Kosel Sue Healey Olga M Sinilnikova Adam Lee François Bacot Daniel Vincent Frans B L Hogervorst Susan Peock Dominique Stoppa-Lyonnet Anna Jakubowska Paolo Radice Rita Katharina Schmutzler Susan M Domchek Marion Piedmonte Christian F Singer Eitan Friedman Mads Thomassen Thomas V O Hansen Susan L Neuhausen Csilla I Szabo Ignacio Blanco Mark H Greene Beth Y Karlan Judy Garber Catherine M Phelan Jeffrey N Weitzel Marco Montagna Edith Olah Irene L Andrulis Andrew K Godwin Drakoulis Yannoukakos David E Goldgar Trinidad Caldes Heli Nevanlinna Ana Osorio Mary Beth Terry Mary B Daly Elizabeth J van Rensburg Ute Hamann Susan J Ramus Amanda Ewart Toland Maria A Caligo Olufunmilayo I Olopade Nadine Tung Kathleen Claes Mary S Beattie Melissa C Southey Evgeny N Imyanitov Marc Tischkowitz Ramunas Janavicius Esther M John Ava Kwong Orland Diez Judith Balmaña Rosa B Barkardottir Banu K Arun Gad Rennert Soo-Hwang Teo Patricia A Ganz Ian Campbell Annemarie H van der Hout Carolien H M van Deurzen Caroline Seynaeve Encarna B Gómez Garcia Flora E van Leeuwen Hanne E J Meijers-Heijboer Johannes J P Gille Margreet G E M Ausems Marinus J Blok Marjolijn J L Ligtenberg Matti A Rookus Peter Devilee Senno Verhoef Theo A M van Os Juul T Wijnen Debra Frost Steve Ellis Elena Fineberg Radka Platte D Gareth Evans Louise Izatt Rosalind A Eeles Julian Adlard Diana M Eccles Jackie Cook Carole Brewer Fiona Douglas Shirley Hodgson Patrick J Morrison Lucy E Side Alan Donaldson Catherine Houghton Mark T Rogers Huw Dorkins Jacqueline Eason Helen Gregory Emma McCann Alex Murray Alain Calender Agnès Hardouin Pascaline Berthet Capucine Delnatte Catherine Nogues Christine Lasset Claude Houdayer Dominique Leroux Etienne Rouleau Fabienne Prieur Francesca Damiola Hagay Sobol Isabelle Coupier Laurence Venat-Bouvet Laurent Castera Marion Gauthier-Villars Mélanie Léoné Pascal Pujol Sylvie Mazoyer Yves-Jean Bignon Elżbieta Złowocka-Perłowska Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska Tomasz Huzarski Amanda B Spurdle Alessandra Viel Bernard Peissel Bernardo Bonanni Giulia Melloni Laura Ottini Laura Papi Liliana Varesco Maria Grazia Tibiletti Paolo Peterlongo Sara Volorio Siranoush Manoukian Valeria Pensotti Norbert Arnold Christoph Engel Helmut Deissler Dorothea Gadzicki Andrea Gehrig Karin Kast Kerstin Rhiem Alfons Meindl Dieter Niederacher Nina Ditsch Hansjoerg Plendl Sabine Preisler-Adams Stefanie Engert Christian Sutter Raymonda Varon-Mateeva Barbara Wappenschmidt Bernhard H F Weber Brita Arver Marie Stenmark-Askmalm Niklas Loman Richard Rosenquist Zakaria Einbeigi Katherine L Nathanson Timothy R Rebbeck Stephanie V Blank David E Cohn Gustavo C Rodriguez Laurie Small Michael Friedlander Victoria L Bae-Jump Anneliese Fink-Retter Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Noralane M Lindor Bella Kaufman Shani Shimon Paluch Yael Laitman Anne-Bine Skytte Anne-Marie Gerdes Inge Sokilde Pedersen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Joseph Vijai Kara Sarrel Mark Robson Noah Kauff Anna Marie Mulligan Gord Glendon Hilmi Ozcelik Bent Ejlertsen Finn C Nielsen Lars Jønson Mette K Andersen Yuan Chun Ding Linda Steele Lenka Foretova Alex Teulé Conxi Lazaro Joan Brunet Miquel Angel Pujana Phuong L Mai Jennifer T Loud Christine Walsh Jenny Lester Sandra Orsulic Steven A Narod Josef Herzog Sharon R Sand Silvia Tognazzo Simona Agata Tibor Vaszko Joellen Weaver Alexandra V Stavropoulou Saundra S Buys Atocha Romero Miguel de la Hoya Kristiina Aittomäki Taru A Muranen Mercedes Duran Wendy K Chung Adriana Lasa Cecilia M Dorfling Alexander Miron Javier Benitez Leigha Senter Dezheng Huo Salina B Chan Anna P Sokolenko Jocelyne Chiquette Laima Tihomirova Tara M Friebel Bjarni A Agnarsson Karen H Lu Flavio Lejbkowicz Paul A James Per Hall Alison M Dunning Daniel Tessier Julie Cunningham Susan L Slager Chen Wang Steven Hart Kristen Stevens Jacques Simard Tomi Pastinen Vernon S Pankratz Kenneth Offit Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou

PLoS Genet 2013 27;9(3):e1003212. Epub 2013 Mar 27.

Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.

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June 2013

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.

Authors:
Stig E Bojesen Karen A Pooley Sharon E Johnatty Jonathan Beesley Kyriaki Michailidou Jonathan P Tyrer Stacey L Edwards Hilda A Pickett Howard C Shen Chanel E Smart Kristine M Hillman Phuong L Mai Kate Lawrenson Michael D Stutz Yi Lu Rod Karevan Nicholas Woods Rebecca L Johnston Juliet D French Xiaoqing Chen Maren Weischer Sune F Nielsen Melanie J Maranian Maya Ghoussaini Shahana Ahmed Caroline Baynes Manjeet K Bolla Qin Wang Joe Dennis Lesley McGuffog Daniel Barrowdale Andrew Lee Sue Healey Michael Lush Daniel C Tessier Daniel Vincent Françis Bacot Ignace Vergote Sandrina Lambrechts Evelyn Despierre Harvey A Risch Anna González-Neira Mary Anne Rossing Guillermo Pita Jennifer A Doherty Nuria Alvarez Melissa C Larson Brooke L Fridley Nils Schoof Jenny Chang-Claude Mine S Cicek Julian Peto Kimberly R Kalli Annegien Broeks Sebastian M Armasu Marjanka K Schmidt Linde M Braaf Boris Winterhoff Heli Nevanlinna Gottfried E Konecny Diether Lambrechts Lisa Rogmann Pascal Guénel Attila Teoman Roger L Milne Joaquin J Garcia Angela Cox Vijayalakshmi Shridhar Barbara Burwinkel Frederik Marme Rebecca Hein Elinor J Sawyer Christopher A Haiman Shan Wang-Gohrke Irene L Andrulis Kirsten B Moysich John L Hopper Kunle Odunsi Annika Lindblom Graham G Giles Hermann Brenner Jacques Simard Galina Lurie Peter A Fasching Michael E Carney Paolo Radice Lynne R Wilkens Anthony Swerdlow Marc T Goodman Hiltrud Brauch Montserrat Garcia-Closas Peter Hillemanns Robert Winqvist Matthias Dürst Peter Devilee Ingo Runnebaum Anna Jakubowska Jan Lubinski Arto Mannermaa Ralf Butzow Natalia V Bogdanova Thilo Dörk Liisa M Pelttari Wei Zheng Arto Leminen Hoda Anton-Culver Clareann H Bunker Vessela Kristensen Roberta B Ness Kenneth Muir Robert Edwards Alfons Meindl Florian Heitz Keitaro Matsuo Andreas du Bois Anna H Wu Philipp Harter Soo-Hwang Teo Ira Schwaab Xiao-Ou Shu William Blot Satoyo Hosono Daehee Kang Toru Nakanishi Mikael Hartman Yasushi Yatabe Ute Hamann Beth Y Karlan Suleeporn Sangrajrang Susanne Krüger Kjaer Valerie Gaborieau Allan Jensen Diana Eccles Estrid Høgdall Chen-Yang Shen Judith Brown Yin Ling Woo Mitul Shah Mat Adenan Noor Azmi Robert Luben Siti Zawiah Omar Kamila Czene Robert A Vierkant Børge G Nordestgaard Henrik Flyger Celine Vachon Janet E Olson Xianshu Wang Douglas A Levine Anja Rudolph Rachel Palmieri Weber Dieter Flesch-Janys Edwin Iversen Stefan Nickels Joellen M Schildkraut Isabel Dos Santos Silva Daniel W Cramer Lorna Gibson Kathryn L Terry Olivia Fletcher Allison F Vitonis C Ellen van der Schoot Elizabeth M Poole Frans B L Hogervorst Shelley S Tworoger Jianjun Liu Elisa V Bandera Jingmei Li Sara H Olson Keith Humphreys Irene Orlow Carl Blomqvist Lorna Rodriguez-Rodriguez Kristiina Aittomäki Helga B Salvesen Taru A Muranen Elisabeth Wik Barbara Brouwers Camilla Krakstad Els Wauters Mari K Halle Hans Wildiers Lambertus A Kiemeney Claire Mulot Katja K Aben Pierre Laurent-Puig Anne Mvan Altena Thérèse Truong Leon F A G Massuger Javier Benitez Tanja Pejovic Jose Ignacio Arias Perez Maureen Hoatlin M Pilar Zamora Linda S Cook Sabapathy P Balasubramanian Linda E Kelemen Andreas Schneeweiss Nhu D Le Christof Sohn Angela Brooks-Wilson Ian Tomlinson Michael J Kerin Nicola Miller Cezary Cybulski Brian E Henderson Janusz Menkiszak Fredrick Schumacher Nicolas Wentzensen Loic Le Marchand Hannah P Yang Anna Marie Mulligan Gord Glendon Svend Aage Engelholm Julia A Knight Claus K Høgdall Carmel Apicella Martin Gore Helen Tsimiklis Honglin Song Melissa C Southey Agnes Jager Ans M Wvan den Ouweland Robert Brown John W M Martens James M Flanagan Mieke Kriege James Paul Sara Margolin Nadeem Siddiqui Gianluca Severi Alice S Whittemore Laura Baglietto Valerie McGuire Christa Stegmaier Weiva Sieh Heiko Müller Volker Arndt France Labrèche Yu-Tang Gao Mark S Goldberg Gong Yang Martine Dumont John R McLaughlin Arndt Hartmann Arif B Ekici Matthias W Beckmann Catherine M Phelan Michael P Lux Jenny Permuth-Wey Bernard Peissel Thomas A Sellers Filomena Ficarazzi Monica Barile Argyrios Ziogas Alan Ashworth Aleksandra Gentry-Maharaj Michael Jones Susan J Ramus Nick Orr Usha Menon Celeste L Pearce Thomas Brüning Malcolm C Pike Yon-Dschun Ko Jolanta Lissowska Jonine Figueroa Jolanta Kupryjanczyk Stephen J Chanock Agnieszka Dansonka-Mieszkowska Arja Jukkola-Vuorinen Iwona K Rzepecka Katri Pylkäs Mariusz Bidzinski Saila Kauppila Antoinette Hollestelle Caroline Seynaeve Rob A E M Tollenaar Katarzyna Durda Katarzyna Jaworska Jaana M Hartikainen Veli-Matti Kosma Vesa Kataja Natalia N Antonenkova Jirong Long Martha Shrubsole Sandra Deming-Halverson Artitaya Lophatananon Pornthep Siriwanarangsan Sarah Stewart-Brown Nina Ditsch Peter Lichtner Rita K Schmutzler Hidemi Ito Hiroji Iwata Kazuo Tajima Chiu-Chen Tseng Daniel O Stram David van den Berg Cheng Har Yip M Kamran Ikram Yew-Ching Teh Hui Cai Wei Lu Lisa B Signorello Qiuyin Cai Dong-Young Noh Keun-Young Yoo Hui Miao Philip Tsau-Choong Iau Yik Ying Teo James McKay Charles Shapiro Foluso Ademuyiwa George Fountzilas Chia-Ni Hsiung Jyh-Cherng Yu Ming-Feng Hou Catherine S Healey Craig Luccarini Susan Peock Dominique Stoppa-Lyonnet Paolo Peterlongo Timothy R Rebbeck Marion Piedmonte Christian F Singer Eitan Friedman Mads Thomassen Kenneth Offit Thomas V O Hansen Susan L Neuhausen Csilla I Szabo Ignacio Blanco Judy Garber Steven A Narod Jeffrey N Weitzel Marco Montagna Edith Olah Andrew K Godwin Drakoulis Yannoukakos David E Goldgar Trinidad Caldes Evgeny N Imyanitov Laima Tihomirova Banu K Arun Ian Campbell Arjen R Mensenkamp Christi J van Asperen Kees E P van Roozendaal Hanne Meijers-Heijboer J Margriet Collée Jan C Oosterwijk Maartje J Hooning Matti A Rookus Rob B van der Luijt Theo A Mvan Os D Gareth Evans Debra Frost Elena Fineberg Julian Barwell Lisa Walker M John Kennedy Radka Platte Rosemarie Davidson Steve D Ellis Trevor Cole Brigitte Bressac-de Paillerets Bruno Buecher Francesca Damiola Laurence Faivre Marc Frenay Olga M Sinilnikova Olivier Caron Sophie Giraud Sylvie Mazoyer Valérie Bonadona Virginie Caux-Moncoutier Aleksandra Toloczko-Grabarek Jacek Gronwald Tomasz Byrski Amanda B Spurdle Bernardo Bonanni Daniela Zaffaroni Giuseppe Giannini Loris Bernard Riccardo Dolcetti Siranoush Manoukian Norbert Arnold Christoph Engel Helmut Deissler Kerstin Rhiem Dieter Niederacher Hansjoerg Plendl Christian Sutter Barbara Wappenschmidt Ake Borg Beatrice Melin Johanna Rantala Maria Soller Katherine L Nathanson Susan M Domchek Gustavo C Rodriguez Ritu Salani Daphne Gschwantler Kaulich Muy-Kheng Tea Shani Shimon Paluch Yael Laitman Anne-Bine Skytte Torben A Kruse Uffe Birk Jensen Mark Robson Anne-Marie Gerdes Bent Ejlertsen Lenka Foretova Sharon A Savage Jenny Lester Penny Soucy Karoline B Kuchenbaecker Curtis Olswold Julie M Cunningham Susan Slager Vernon S Pankratz Ed Dicks Sunil R Lakhani Fergus J Couch Per Hall Alvaro N A Monteiro Simon A Gayther Paul D P Pharoah Roger R Reddel Ellen L Goode Mark H Greene Douglas F Easton Andrew Berchuck Antonis C Antoniou Georgia Chenevix-Trench Alison M Dunning

Nat Genet 2013 Apr;45(4):371-84, 384e1-2

Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1038/ng.2566DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3670748PMC
April 2013

Usefulness of epithelial cell adhesion molecule expression in the algorithmic approach to Lynch syndrome identification.

Hum Pathol 2013 Mar 29;44(3):412-6. Epub 2012 Sep 29.

Department of Pathology, Hospital Universitari Germans Trias i Pujol, C/ Ctra de Canyet s/n, 08916 Badalona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.humpath.2012.06.006DOI Listing
March 2013

MLH1 methylation screening is effective in identifying epimutation carriers.

Eur J Hum Genet 2012 Dec 4;20(12):1256-64. Epub 2012 Jul 4.

Hereditary Cancer Program, Catalan Institute of Oncology, ICO-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2012.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499751PMC
December 2012

Comprehensive functional assessment of MLH1 variants of unknown significance.

Hum Mutat 2012 Nov 12;33(11):1576-88. Epub 2012 Jul 12.

Hereditary Cancer Program, Catalan Institute of Oncology, ICO-IDIBELL, Hospitalet de Llobregat, Spain.

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http://dx.doi.org/10.1002/humu.22142DOI Listing
November 2012

Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review.

Ther Adv Respir Dis 2012 Oct 29;6(5):277-95. Epub 2012 Aug 29.

Center for Evaluation of Risks to Human Reproduction, National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709-2233, USA.

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http://dx.doi.org/10.1177/1753465812457113DOI Listing
October 2012

Alpha-1 Antitrypsin Deficiency PI*Z and PI*S Gene Frequency Distribution Using on Maps of the World by an Inverse Distance Weighting (IDW) Multivariate Interpolation Method.

Hepat Mon 2012 Oct 21;12(10 HCC):e7434. Epub 2012 Oct 21.

The Principality of Asturias Biomedical Research Office (OIB-FICYT), Oviedo, Spain ; Alpha1-Antitrypsin Deficiency Spanish Registry, Barcelona, Spain.

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http://dx.doi.org/10.5812/hepatmon.7434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500828PMC
October 2012

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.

Authors:
Yuan C Ding Lesley McGuffog Sue Healey Eitan Friedman Yael Laitman Shani- Paluch-Shimon Bella Kaufman Annelie Liljegren Annika Lindblom Håkan Olsson Ulf Kristoffersson Marie Stenmark-Askmalm Beatrice Melin Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Jacek Gronwald Tomasz Huzarski Cezary Cybulski Tomasz Byrski Ana Osorio Teresa Ramóny Cajal Alexandra V Stavropoulou Javier Benítez Ute Hamann Matti Rookus Cora M Aalfs Judith L de Lange Hanne E J Meijers-Heijboer Jan C Oosterwijk Christi J van Asperen Encarna B Gómez García Nicoline Hoogerbrugge Agnes Jager Rob B van der Luijt Douglas F Easton Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Fiona Lalloo Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Diana Eccles Trevor Cole Jackie Cook Carole Brewer Marc Tischkowitz Andrew K Godwin Harsh Pathak Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Laure Barjhoux Mélanie Léoné Marion Gauthier-Villars Virginie Caux-Moncoutier Antoine de Pauw Agnès Hardouin Pascaline Berthet Hélène Dreyfus Sandra Fert Ferrer Marie-Agnès Collonge-Rame Johanna Sokolowska Saundra Buys Mary Daly Alex Miron Mary Beth Terry Wendy Chung Esther M John Melissa Southey David Goldgar Christian F Singer Muy-Kheng Maria Tea Daphne Gschwantler-Kaulich Anneliese Fink-Retter Thomas V O Hansen Bent Ejlertsen Oskar T Johannsson Kenneth Offit Kara Sarrel Mia M Gaudet Joseph Vijai Mark Robson Marion R Piedmonte Lesley Andrews David Cohn Leslie R DeMars Paul DiSilvestro Gustavo Rodriguez Amanda Ewart Toland Marco Montagna Simona Agata Evgeny Imyanitov Claudine Isaacs Ramunas Janavicius Conxi Lazaro Ignacio Blanco Susan J Ramus Lara Sucheston Beth Y Karlan Jenny Gross Patricia A Ganz Mary S Beattie Rita K Schmutzler Barbara Wappenschmidt Alfons Meindl Norbert Arnold Dieter Niederacher Sabine Preisler-Adams Dorotehea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Heli Nevanlinna Kristiina Aittomäki Jacques Simard Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Gail E Tomlinson Jeffrey Weitzel Judy E Garber Olufunmilayo I Olopade Wendy S Rubinstein Nadine Tung Joanne L Blum Steven A Narod Sean Brummel Daniel L Gillen Noralane Lindor Zachary Fredericksen Vernon S Pankratz Fergus J Couch Paolo Radice Paolo Peterlongo Mark H Greene Jennifer T Loud Phuong L Mai Irene L Andrulis Gord Glendon Hilmi Ozcelik Anne-Marie Gerdes Mads Thomassen Uffe Birk Jensen Anne-Bine Skytte Maria A Caligo Andrew Lee Georgia Chenevix-Trench Antonis C Antoniou Susan L Neuhausen

Cancer Epidemiol Biomarkers Prev 2012 Aug 22;21(8):1362-70. Epub 2012 Jun 22.

Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California 91010, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-12-0229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415567PMC
August 2012

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Authors:
Anna Marie Mulligan Fergus J Couch Daniel Barrowdale Susan M Domchek Diana Eccles Heli Nevanlinna Susan J Ramus Mark Robson Mark Sherman Amanda B Spurdle Barbara Wappenschmidt Andrew Lee Lesley McGuffog Sue Healey Olga M Sinilnikova Ramunas Janavicius Thomas vO Hansen Finn C Nielsen Bent Ejlertsen Ana Osorio Iván Muñoz-Repeto Mercedes Durán Javier Godino Maroulio Pertesi Javier Benítez Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Elisa Cattaneo Bernardo Bonanni Alessandra Viel Barbara Pasini Laura Papi Laura Ottini Antonella Savarese Loris Bernard Paolo Radice Ute Hamann Martijn Verheus Hanne E J Meijers-Heijboer Juul Wijnen Encarna B Gómez García Marcel R Nelen C Marleen Kets Caroline Seynaeve Madeleine M A Tilanus-Linthorst Rob B van der Luijt Theo van Os Matti Rookus Debra Frost J Louise Jones D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Julian Adlard Rosemarie Davidson Jackie Cook Alan Donaldson Huw Dorkins Helen Gregory Jacqueline Eason Catherine Houghton Julian Barwell Lucy E Side Emma McCann Alex Murray Susan Peock Andrew K Godwin Rita K Schmutzler Kerstin Rhiem Christoph Engel Alfons Meindl Ina Ruehl Norbert Arnold Dieter Niederacher Christian Sutter Helmut Deissler Dorothea Gadzicki Karin Kast Sabine Preisler-Adams Raymonda Varon-Mateeva Ines Schoenbuchner Britta Fiebig Wolfram Heinritz Dieter Schäfer Heidrun Gevensleben Virginie Caux-Moncoutier Marion Fassy-Colcombet François Cornelis Sylvie Mazoyer Mélanie Léoné Nadia Boutry-Kryza Agnès Hardouin Pascaline Berthet Danièle Muller Jean-Pierre Fricker Isabelle Mortemousque Pascal Pujol Isabelle Coupier Marine Lebrun Caroline Kientz Michel Longy Nicolas Sevenet Dominique Stoppa-Lyonnet Claudine Isaacs Trinidad Caldes Miguel de la Hoya Tuomas Heikkinen Kristiina Aittomäki Ignacio Blanco Conxi Lazaro Rosa B Barkardottir Penny Soucy Martine Dumont Jacques Simard Marco Montagna Silvia Tognazzo Emma D'Andrea Stephen Fox Max Yan Tim Rebbeck Olufunmilayo Olopade Jeffrey N Weitzel Henry T Lynch Patricia A Ganz Gail E Tomlinson Xianshu Wang Zachary Fredericksen Vernon S Pankratz Noralane M Lindor Csilla Szabo Kenneth Offit Rita Sakr Mia Gaudet Jasmine Bhatia Noah Kauff Christian F Singer Muy-Kheng Tea Daphne Gschwantler-Kaulich Anneliese Fink-Retter Phuong L Mai Mark H Greene Evgeny Imyanitov Frances P O'Malley Hilmi Ozcelik Gordon Glendon Amanda E Toland Anne-Marie Gerdes Mads Thomassen Torben A Kruse Uffe Birk Jensen Anne-Bine Skytte Maria A Caligo Maria Soller Karin Henriksson von Anna Wachenfeldt Brita Arver Marie Stenmark-Askmalm Per Karlsson Yuan Chun Ding Susan L Neuhausen Mary Beattie Paul D P Pharoah Kirsten B Moysich Katherine L Nathanson Beth Y Karlan Jenny Gross Esther M John Mary B Daly Saundra M Buys Melissa C Southey John L Hopper Mary Beth Terry Wendy Chung Alexander F Miron David Goldgar Georgia Chenevix-Trench Douglas F Easton Irene L Andrulis Antonis C Antoniou

Breast Cancer Res 2011 2;13(6):R110. Epub 2011 Nov 2.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK.

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http://dx.doi.org/10.1186/bcr3052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326552PMC
June 2012

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.

Breast Cancer Res Treat 2012 Apr 7;132(3):979-92. Epub 2011 Jul 7.

Hereditary Cancer Program, Genetic Diagnosis Unit, Laboratori de Recerca Translacional, Institut Català d'Oncologia, Hospital Duran i Reynals-Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, Barcelona and Hospital Josep Trueta, IDIBGI, Gran Via 199-203, Girona 08908, Spain.

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April 2012

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Fergus J Couch Mia M Gaudet Antonis C Antoniou Susan J Ramus Karoline B Kuchenbaecker Penny Soucy Jonathan Beesley Xiaoqing Chen Xianshu Wang Tomas Kirchhoff Lesley McGuffog Daniel Barrowdale Andrew Lee Sue Healey Olga M Sinilnikova Irene L Andrulis Hilmi Ozcelik Anna Marie Mulligan Mads Thomassen Anne-Marie Gerdes Uffe Birk Jensen Anne-Bine Skytte Torben A Kruse Maria A Caligo Anna von Wachenfeldt Gisela Barbany-Bustinza Niklas Loman Maria Soller Hans Ehrencrona Per Karlsson Katherine L Nathanson Timothy R Rebbeck Susan M Domchek Ania Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Elzbieta Zlowocka Tomasz Huzarski Tomasz Byrski Jacek Gronwald Cezary Cybulski Bohdan Górski Ana Osorio Mercedes Durán María Isabel Tejada Javier Benitez Ute Hamann Frans B L Hogervorst Theo A van Os Flora E van Leeuwen Hanne E J Meijers-Heijboer Juul Wijnen Marinus J Blok Marleen Kets Maartje J Hooning Rogier A Oldenburg Margreet G E M Ausems Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Chris Jacobs Rosalind A Eeles Julian Adlard Rosemarie Davidson Diana M Eccles Trevor Cole Jackie Cook Joan Paterson Carole Brewer Fiona Douglas Shirley V Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Lucy E Side Betsy Bove Andrew K Godwin Dominique Stoppa-Lyonnet Marion Fassy-Colcombet Laurent Castera François Cornelis Sylvie Mazoyer Mélanie Léoné Nadia Boutry-Kryza Brigitte Bressac-de Paillerets Olivier Caron Pascal Pujol Isabelle Coupier Capucine Delnatte Linda Akloul Henry T Lynch Carrie L Snyder Saundra S Buys Mary B Daly Marybeth Terry Wendy K Chung Esther M John Alexander Miron Melissa C Southey John L Hopper David E Goldgar Christian F Singer Christine Rappaport Muy-Kheng M Tea Anneliese Fink-Retter Thomas V O Hansen Finn C Nielsen Aðalgeir Arason Joseph Vijai Sohela Shah Kara Sarrel Mark E Robson Marion Piedmonte Kelly Phillips Jack Basil Wendy S Rubinstein John Boggess Katie Wakeley Amanda Ewart-Toland Marco Montagna Simona Agata Evgeny N Imyanitov Claudine Isaacs Ramunas Janavicius Conxi Lazaro Ignacio Blanco Lidia Feliubadalo Joan Brunet Simon A Gayther Paul P D Pharoah Kunle O Odunsi Beth Y Karlan Christine S Walsh Edith Olah Soo Hwang Teo Patricia A Ganz Mary S Beattie Elizabeth J van Rensburg Cecelia M Dorfling Orland Diez Ava Kwong Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Simone Heidemann Dieter Niederacher Sabine Preisler-Adams Dorothea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Britta Fiebig Wolfram Heinritz Trinidad Caldes Miguel de la Hoya Taru A Muranen Heli Nevanlinna Marc D Tischkowitz Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Noralane M Lindor Zachary Fredericksen V Shane Pankratz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Monica Barile Loris Bernard Alessandra Viel Giuseppe Giannini Liliana Varesco Paolo Radice Mark H Greene Phuong L Mai Douglas F Easton Georgia Chenevix-Trench Kenneth Offit Jacques Simard

Cancer Epidemiol Biomarkers Prev 2012 Apr 20;21(4):645-57. Epub 2012 Feb 20.

Departments of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319317PMC
April 2012

Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.

BMC Cancer 2012 Mar 8;12:84. Epub 2012 Mar 8.

Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Hospital Duran i Reynals, Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1186/1471-2407-12-84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315397PMC
March 2012

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Karoline B Kuchenbaecker Penny Soucy Jonathan Beesley Xiaoqing Chen Lesley McGuffog Andrew Lee Daniel Barrowdale Sue Healey Olga M Sinilnikova Maria A Caligo Niklas Loman Katja Harbst Annika Lindblom Brita Arver Richard Rosenquist Per Karlsson Kate Nathanson Susan Domchek Tim Rebbeck Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Elżbieta Złowowcka-Perłowska Ana Osorio Mercedes Durán Raquel Andrés Javier Benítez Ute Hamann Frans B Hogervorst Theo A van Os Senno Verhoef Hanne E J Meijers-Heijboer Juul Wijnen Encarna B Gómez Garcia Marjolijn J Ligtenberg Mieke Kriege J Margriet Collée Margreet G E M Ausems Jan C Oosterwijk Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Fiona Lalloo Chris Jacobs Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Jackie Cook Joan Paterson Fiona Douglas Carole Brewer Shirley Hodgson Patrick J Morrison Lisa Walker Mark T Rogers Alan Donaldson Huw Dorkins Andrew K Godwin Betsy Bove Dominique Stoppa-Lyonnet Claude Houdayer Bruno Buecher Antoine de Pauw Sylvie Mazoyer Alain Calender Mélanie Léoné Brigitte Bressac-de Paillerets Olivier Caron Hagay Sobol Marc Frenay Fabienne Prieur Sandra U Ferrer Isabelle Mortemousque Saundra Buys Mary Daly Alexander Miron Mary U Terry John L Hopper Esther M John Melissa Southey David Goldgar Christian F Singer Anneliese Fink-Retter Muy-Kheng Tea Daphne U Kaulich Thomas V Hansen Finn C Nielsen Rosa B Barkardottir Mia Gaudet Tomas Kirchhoff Vijai Joseph Ana Dutra-Clarke Kenneth Offit Marion Piedmonte Judy Kirk David Cohn Jean Hurteau John Byron James Fiorica Amanda E Toland Marco Montagna Cristina Oliani Evgeny Imyanitov Claudine Isaacs Laima Tihomirova Ignacio Blanco Conxi Lazaro Alex Teulé J Del Valle Simon A Gayther Kunle Odunsi Jenny Gross Beth Y Karlan Edith Olah Soo-Hwang Teo Patricia A Ganz Mary S Beattie Cecelia M Dorfling Elizabeth U van Rensburg Orland Diez Ava Kwong Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Simone Heidemann Dieter Niederacher Sabine Preisler-Adams Dorothea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Britta Fiebig Dieter Schäfer Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Taru A Muranen Bernard Lespérance Amanda B Spurdle Susan L Neuhausen Yuan C Ding Xianshu Wang Zachary Fredericksen Vernon S Pankratz Noralane M Lindor Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Bernardo Bonanni Loris Bernard Riccardo Dolcetti Laura Papi Laura Ottini Paolo Radice Mark H Greene Jennifer T Loud Irene L Andrulis Hilmi Ozcelik Anna U Mulligan Gord Glendon Mads Thomassen Anne-Marie Gerdes Uffe B Jensen Anne-Bine Skytte Torben A Kruse Georgia Chenevix-Trench Fergus J Couch Jacques Simard Douglas F Easton

Breast Cancer Res 2012 Feb 20;14(1):R33. Epub 2012 Feb 20.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK.

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http://dx.doi.org/10.1186/bcr3121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3496151PMC
February 2012

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Authors:
Nasim Mavaddat Daniel Barrowdale Irene L Andrulis Susan M Domchek Diana Eccles Heli Nevanlinna Susan J Ramus Amanda Spurdle Mark Robson Mark Sherman Anna Marie Mulligan Fergus J Couch Christoph Engel Lesley McGuffog Sue Healey Olga M Sinilnikova Melissa C Southey Mary Beth Terry David Goldgar Frances O'Malley Esther M John Ramunas Janavicius Laima Tihomirova Thomas V O Hansen Finn C Nielsen Ana Osorio Alexandra Stavropoulou Javier Benítez Siranoush Manoukian Bernard Peissel Monica Barile Sara Volorio Barbara Pasini Riccardo Dolcetti Anna Laura Putignano Laura Ottini Paolo Radice Ute Hamann Muhammad U Rashid Frans B Hogervorst Mieke Kriege Rob B van der Luijt Susan Peock Debra Frost D Gareth Evans Carole Brewer Lisa Walker Mark T Rogers Lucy E Side Catherine Houghton JoEllen Weaver Andrew K Godwin Rita K Schmutzler Barbara Wappenschmidt Alfons Meindl Karin Kast Norbert Arnold Dieter Niederacher Christian Sutter Helmut Deissler Doroteha Gadzicki Sabine Preisler-Adams Raymonda Varon-Mateeva Ines Schönbuchner Heidrun Gevensleben Dominique Stoppa-Lyonnet Muriel Belotti Laure Barjhoux Claudine Isaacs Beth N Peshkin Trinidad Caldes Miguel de la Hoya Carmen Cañadas Tuomas Heikkinen Päivi Heikkilä Kristiina Aittomäki Ignacio Blanco Conxi Lazaro Joan Brunet Bjarni A Agnarsson Adalgeir Arason Rosa B Barkardottir Martine Dumont Jacques Simard Marco Montagna Simona Agata Emma D'Andrea Max Yan Stephen Fox Timothy R Rebbeck Wendy Rubinstein Nadine Tung Judy E Garber Xianshu Wang Zachary Fredericksen Vernon S Pankratz Noralane M Lindor Csilla Szabo Kenneth Offit Rita Sakr Mia M Gaudet Christian F Singer Muy-Kheng Tea Christine Rappaport Phuong L Mai Mark H Greene Anna Sokolenko Evgeny Imyanitov Amanda Ewart Toland Leigha Senter Kevin Sweet Mads Thomassen Anne-Marie Gerdes Torben Kruse Maria Caligo Paolo Aretini Johanna Rantala Anna von Wachenfeld Karin Henriksson Linda Steele Susan L Neuhausen Robert Nussbaum Mary Beattie Kunle Odunsi Lara Sucheston Simon A Gayther Kate Nathanson Jenny Gross Christine Walsh Beth Karlan Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou

Cancer Epidemiol Biomarkers Prev 2012 Jan 5;21(1):134-47. Epub 2011 Dec 5.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272407PMC
January 2012

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.

JAMA 2012 Jan;307(4):382-90

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1001/jama.2012.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3727895PMC
January 2012

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

Authors:
David G Cox Jacques Simard Daniel Sinnett Yosr Hamdi Penny Soucy Manon Ouimet Laure Barjhoux Carole Verny-Pierre Lesley McGuffog Sue Healey Csilla Szabo Mark H Greene Phuong L Mai Irene L Andrulis Mads Thomassen Anne-Marie Gerdes Maria A Caligo Eitan Friedman Yael Laitman Bella Kaufman Shani S Paluch Åke Borg Per Karlsson Marie Stenmark Askmalm Gisela Barbany Bustinza Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Javier Benítez Ute Hamann Matti A Rookus Ans M W van den Ouweland Margreet G E M Ausems Cora M Aalfs Christi J van Asperen Peter Devilee Hans J J P Gille Susan Peock Debra Frost D Gareth Evans Ros Eeles Louise Izatt Julian Adlard Joan Paterson Jacqueline Eason Andrew K Godwin Marie-Alice Remon Virginie Moncoutier Marion Gauthier-Villars Christine Lasset Sophie Giraud Agnès Hardouin Pascaline Berthet Hagay Sobol François Eisinger Brigitte Bressac de Paillerets Olivier Caron Capucine Delnatte David Goldgar Alex Miron Hilmi Ozcelik Saundra Buys Melissa C Southey Mary Beth Terry Christian F Singer Anne-Catharina Dressler Muy-Kheng Tea Thomas V O Hansen Oskar Johannsson Marion Piedmonte Gustavo C Rodriguez Jack B Basil Stephanie Blank Amanda E Toland Marco Montagna Claudine Isaacs Ignacio Blanco Simon A Gayther Kirsten B Moysich Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Christian Sutter Dorothea Gadzicki Britta Fiebig Trinidad Caldes Rachel Laframboise Heli Nevanlinna Xiaoqing Chen Jonathan Beesley Amanda B Spurdle Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Paolo Peterlongo Siranoush Manoukian Loris Bernard Paolo Radice Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Dominique Stoppa-Lyonnet Sylvie Mazoyer Olga M Sinilnikova

Hum Mol Genet 2011 Dec 2;20(23):4732-47. Epub 2011 Sep 2.

INSERM U1052, CNRS UMR5286, Université Lyon 1, Cancer Research Center of Lyon, Lyon, France.

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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddr388
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http://dx.doi.org/10.1093/hmg/ddr388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733139PMC
December 2011

Uveal melanoma and BRCA1/BRCA2 genes: a relationship that needs further investigation.

J Clin Oncol 2011 Dec 24;29(34):e827-9. Epub 2011 Oct 24.

Medical Oncology Department, Institut Català d'Oncologia, Avda Gran Via No 199-203, L'Hospitalet de Llobregat, 08908 Barcelona, Spain.

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http://dx.doi.org/10.1200/JCO.2011.37.8828DOI Listing
December 2011

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.

Authors:
Kate M Im Tomas Kirchhoff Xianshu Wang Todd Green Clement Y Chow Joseph Vijai Joshua Korn Mia M Gaudet Zachary Fredericksen V Shane Pankratz Candace Guiducci Andrew Crenshaw Lesley McGuffog Christiana Kartsonaki Jonathan Morrison Sue Healey Olga M Sinilnikova Phuong L Mai Mark H Greene Marion Piedmonte Wendy S Rubinstein Frans B Hogervorst Matti A Rookus J Margriet Collée Nicoline Hoogerbrugge Christi J van Asperen Hanne E J Meijers-Heijboer Cees E Van Roozendaal Trinidad Caldes Pedro Perez-Segura Anna Jakubowska Jan Lubinski Tomasz Huzarski Paweł Blecharz Heli Nevanlinna Kristiina Aittomäki Conxi Lazaro Ignacio Blanco Rosa B Barkardottir Marco Montagna Emma D'Andrea Peter Devilee Olufunmilayo I Olopade Susan L Neuhausen Bernard Peissel Bernardo Bonanni Paolo Peterlongo Christian F Singer Gad Rennert Flavio Lejbkowicz Irene L Andrulis Gord Glendon Hilmi Ozcelik Amanda Ewart Toland Maria Adelaide Caligo Mary S Beattie Salina Chan Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Catherine Phelan Steven Narod Esther M John John L Hopper Saundra S Buys Mary B Daly Melissa C Southey Mary-Beth Terry Nadine Tung Thomas V O Hansen Ana Osorio Javier Benitez Mercedes Durán Jeffrey N Weitzel Judy Garber Ute Hamann Susan Peock Margaret Cook Clare T Oliver Debra Frost Radka Platte D Gareth Evans Ros Eeles Louise Izatt Joan Paterson Carole Brewer Shirley Hodgson Patrick J Morrison Mary Porteous Lisa Walker Mark T Rogers Lucy E Side Andrew K Godwin Rita K Schmutzler Barbara Wappenschmidt Yael Laitman Alfons Meindl Helmut Deissler Raymonda Varon-Mateeva Sabine Preisler-Adams Karin Kast Laurence Venat-Bouvet Dominique Stoppa-Lyonnet Georgia Chenevix-Trench Douglas F Easton Robert J Klein Mark J Daly Eitan Friedman Michael Dean Andrew G Clark David M Altshuler Antonis C Antoniou Fergus J Couch Kenneth Offit Bert Gold

Hum Genet 2011 Nov 20;130(5):685-99. Epub 2011 May 20.

Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA.

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http://dx.doi.org/10.1007/s00439-011-1003-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196382PMC
November 2011

Identification of a new complex rearrangement affecting exon 20 of BRCA1.

Breast Cancer Res Treat 2011 Nov 15;130(1):341-4. Epub 2011 Jul 15.

Hereditary Cancer Program, Institut Català d'Oncologia, Hospital Duran i Reynals - Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona and Hospital Josep Trueta, IDIBGI, Girona (JB, ED, AI and AV), Spain.

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http://link.springer.com/10.1007/s10549-011-1673-1
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http://dx.doi.org/10.1007/s10549-011-1673-1DOI Listing
November 2011

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.

Authors:
Christopher A Maxwell Javier Benítez Laia Gómez-Baldó Ana Osorio Núria Bonifaci Ricardo Fernández-Ramires Sylvain V Costes Elisabet Guinó Helen Chen Gareth J R Evans Pooja Mohan Isabel Català Anna Petit Helena Aguilar Alberto Villanueva Alvaro Aytes Jordi Serra-Musach Gad Rennert Flavio Lejbkowicz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Carla B Ripamonti Bernardo Bonanni Alessandra Viel Anna Allavena Loris Bernard Paolo Radice Eitan Friedman Bella Kaufman Yael Laitman Maya Dubrovsky Roni Milgrom Anna Jakubowska Cezary Cybulski Bohdan Gorski Katarzyna Jaworska Katarzyna Durda Grzegorz Sukiennicki Jan Lubiński Yin Yao Shugart Susan M Domchek Richard Letrero Barbara L Weber Frans B L Hogervorst Matti A Rookus J Margriet Collee Peter Devilee Marjolijn J Ligtenberg Rob B van der Luijt Cora M Aalfs Quinten Waisfisz Juul Wijnen Cornelis E P van Roozendaal Douglas F Easton Susan Peock Margaret Cook Clare Oliver Debra Frost Patricia Harrington D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Carol Chu Diana Eccles Fiona Douglas Carole Brewer Heli Nevanlinna Tuomas Heikkinen Fergus J Couch Noralane M Lindor Xianshu Wang Andrew K Godwin Maria A Caligo Grazia Lombardi Niklas Loman Per Karlsson Hans Ehrencrona Anna von Wachenfeldt Rosa Bjork Barkardottir Ute Hamann Muhammad U Rashid Adriana Lasa Trinidad Caldés Raquel Andrés Michael Schmitt Volker Assmann Kristen Stevens Kenneth Offit João Curado Hagen Tilgner Roderic Guigó Gemma Aiza Joan Brunet Joan Castellsagué Griselda Martrat Ander Urruticoechea Ignacio Blanco Laima Tihomirova David E Goldgar Saundra Buys Esther M John Alexander Miron Melissa Southey Mary B Daly Rita K Schmutzler Barbara Wappenschmidt Alfons Meindl Norbert Arnold Helmut Deissler Raymonda Varon-Mateeva Christian Sutter Dieter Niederacher Evgeny Imyamitov Olga M Sinilnikova Dominique Stoppa-Lyonne Sylvie Mazoyer Carole Verny-Pierre Laurent Castera Antoine de Pauw Yves-Jean Bignon Nancy Uhrhammer Jean-Philippe Peyrat Philippe Vennin Sandra Fert Ferrer Marie-Agnès Collonge-Rame Isabelle Mortemousque Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Sue Healey Mary Helen Barcellos-Hoff Marc Vidal Stephen B Gruber Conxi Lázaro Gabriel Capellá Lesley McGuffog Katherine L Nathanson Antonis C Antoniou Georgia Chenevix-Trench Markus C Fleisch Víctor Moreno Miguel Angel Pujana

PLoS Biol 2011 Nov 15;9(11):e1001199. Epub 2011 Nov 15.

Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Biomedical Research Institute-IDIBELL, L'Hospitalet, Catalonia, Spain.

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http://dx.doi.org/10.1371/journal.pbio.1001199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217025PMC
November 2011

Evidence for a link between TNFRSF11A and risk of breast cancer.

Breast Cancer Res Treat 2011 Oct 4;129(3):947-54. Epub 2011 May 4.

Biomarkers and Susceptibility Unit, and Biomedical Research Center Network for Epidemiology and Public Health, Cancer Prevention and Control Program, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research (IDIBELL), Gran Via 199, L'Hospitalet, Barcelona 08908, Spain.

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http://dx.doi.org/10.1007/s10549-011-1546-7DOI Listing
October 2011

Factors associated with the evolution of lung function in patients with alpha-1 antitrypsin deficiency in the Spanish registry.

Arch Bronconeumol 2011 Oct 27;47(10):495-503. Epub 2011 Jul 27.

Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Ciber de Enfermedades Respiratorias (CIBERES), Hospital Clinic, Barcelona, España.

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http://dx.doi.org/10.1016/j.arbres.2011.06.002DOI Listing
October 2011

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Christiana Kartsonaki Olga M Sinilnikova Penny Soucy Lesley McGuffog Sue Healey Andrew Lee Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Elisa Cattaneo Monica Barile Valeria Pensotti Barbara Pasini Riccardo Dolcetti Giuseppe Giannini Anna Laura Putignano Liliana Varesco Paolo Radice Phuong L Mai Mark H Greene Irene L Andrulis Gord Glendon Hilmi Ozcelik Mads Thomassen Anne-Marie Gerdes Torben A Kruse Uffe Birk Jensen Dorthe G Crüger Maria A Caligo Yael Laitman Roni Milgrom Bella Kaufman Shani Paluch-Shimon Eitan Friedman Niklas Loman Katja Harbst Annika Lindblom Brita Arver Hans Ehrencrona Beatrice Melin Katherine L Nathanson Susan M Domchek Timothy Rebbeck Ania Jakubowska Jan Lubinski Jacek Gronwald Tomasz Huzarski Tomasz Byrski Cezary Cybulski Bohdan Gorski Ana Osorio Teresa Ramón y Cajal Florentia Fostira Raquel Andrés Javier Benitez Ute Hamann Frans B Hogervorst Matti A Rookus Maartje J Hooning Marcel R Nelen Rob B van der Luijt Theo A M van Os Christi J van Asperen Peter Devilee Hanne E J Meijers-Heijboer Encarna B Gómez Garcia Susan Peock Margaret Cook Debra Frost Radka Platte Jean Leyland D Gareth Evans Fiona Lalloo Ros Eeles Louise Izatt Julian Adlard Rosemarie Davidson Diana Eccles Kai-ren Ong Jackie Cook Fiona Douglas Joan Paterson M John Kennedy Zosia Miedzybrodzka Andrew Godwin Dominique Stoppa-Lyonnet Bruno Buecher Muriel Belotti Carole Tirapo Sylvie Mazoyer Laure Barjhoux Christine Lasset Dominique Leroux Laurence Faivre Myriam Bronner Fabienne Prieur Catherine Nogues Etienne Rouleau Pascal Pujol Isabelle Coupier Marc Frénay John L Hopper Mary B Daly Mary B Terry Esther M John Saundra S Buys Yosuf Yassin Alexander Miron David Goldgar Christian F Singer Muy-Kheng Tea Georg Pfeiler Anne Catharina Dressler Thomas v O Hansen Lars Jønson Bent Ejlertsen Rosa Bjork Barkardottir Tomas Kirchhoff Kenneth Offit Marion Piedmonte Gustavo Rodriguez Laurie Small John Boggess Stephanie Blank Jack Basil Masoud Azodi Amanda Ewart Toland Marco Montagna Silvia Tognazzo Simona Agata Evgeny Imyanitov Ramunas Janavicius Conxi Lazaro Ignacio Blanco Paul D P Pharoah Lara Sucheston Beth Y Karlan Christine S Walsh Edith Olah Aniko Bozsik Soo-Hwang Teo Joyce L Seldon Mary S Beattie Elizabeth J van Rensburg Michelle D Sluiter Orland Diez Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Ina Ruehl Raymonda Varon-Mateeva Karin Kast Helmut Deissler Dieter Niederacher Norbert Arnold Dorothea Gadzicki Ines Schönbuchner Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Martine Dumont Jocelyne Chiquette Marc Tischkowitz Xiaoqing Chen Jonathan Beesley Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Zachary Fredericksen Xianshu Wang Vernon S Pankratz Fergus Couch Jacques Simard Douglas F Easton Georgia Chenevix-Trench

Hum Mol Genet 2011 Aug 18;20(16):3304-21. Epub 2011 May 18.

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1093/hmg/ddr226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652640PMC
August 2011

[Respiratory disease registries in Spain: fundamentals and organization].

Arch Bronconeumol 2011 Aug 23;47(8):389-96. Epub 2011 May 23.

Servicio de Neumología, Hospital Universitario Arnau de Vilanova, Institut de Recerca Biomédica de Lleida, Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, España.

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http://dx.doi.org/10.1016/j.arbres.2011.04.002DOI Listing
August 2011

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism.

Hum Mutat 2011 Jul 2;32(7):705-9. Epub 2011 Jun 2.

Hereditary Cancer Program, Genetic Diagnosis Unit, Institut Català d'Oncologia, Badalona, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.21500DOI Listing
July 2011

Exploring the link between MORF4L1 and risk of breast cancer.

Authors:
Griselda Martrat Christopher M Maxwell Emiko Tominaga Montserrat Porta-de-la-Riva Núria Bonifaci Laia Gómez-Baldó Massimo Bogliolo Conxi Lázaro Ignacio Blanco Joan Brunet Helena Aguilar Juana Fernández-Rodríguez Sheila Seal Anthony Renwick Nazneen Rahman Julia Kühl Kornelia Neveling Detlev Schindler María J Ramírez María Castellà Gonzalo Hernández Douglas F Easton Susan Peock Margaret Cook Clare T Oliver Debra Frost Radka Platte D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Carol Chu Rosemarie Davidson Kai-Ren Ong Jackie Cook Fiona Douglas Shirley Hodgson Carole Brewer Patrick J Morrison Mary Porteous Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Gaia Roversi Monica Barile Alessandra Viel Barbara Pasini Laura Ottini Anna Laura Putignano Antonella Savarese Loris Bernard Paolo Radice Sue Healey Amanda Spurdle Xiaoqing Chen Jonathan Beesley Matti A Rookus Senno Verhoef Madeleine A Tilanus-Linthorst Maaike P Vreeswijk Christi J Asperen Danielle Bodmer Margreet G E M Ausems Theo A van Os Marinus J Blok Hanne E J Meijers-Heijboer Frans B L Hogervorst David E Goldgar Saundra Buys Esther M John Alexander Miron Melissa Southey Mary B Daly Katja Harbst Ake Borg Johanna Rantala Gisela Barbany-Bustinza Hans Ehrencrona Marie Stenmark-Askmalm Bella Kaufman Yael Laitman Roni Milgrom Eitan Friedman Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Oskar Thor Johannsson Fergus J Couch Xianshu Wang Zachary Fredericksen Daniel Cuadras Víctor Moreno Friederike K Pientka Reinhard Depping Trinidad Caldés Ana Osorio Javier Benítez Juan Bueren Tuomas Heikkinen Heli Nevanlinna Ute Hamann Diana Torres Maria Adelaide Caligo Andrew K Godwin Evgeny N Imyanitov Ramunas Janavicius Olga M Sinilnikova Dominique Stoppa-Lyonnet Sylvie Mazoyer Carole Verny-Pierre Laurent Castera Antoine de Pauw Yves-Jean Bignon Nancy Uhrhammer Jean-Philippe Peyrat Philippe Vennin Sandra Fert Ferrer Marie-Agnès Collonge-Rame Isabelle Mortemousque Lesley McGuffog Georgia Chenevix-Trench Olivia M Pereira-Smith Antonis C Antoniou Julián Cerón Kaoru Tominaga Jordi Surrallés Miguel Angel Pujana

Breast Cancer Res 2011 Apr 5;13(2):R40. Epub 2011 Apr 5.

Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research (IDIBELL), Gran Via 199, L'Hospitalet del Llobregat 08908, Spain.

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http://dx.doi.org/10.1186/bcr2862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219203PMC
April 2011

Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema.

Orphanet J Rare Dis 2011 Apr 12;6:14. Epub 2011 Apr 12.

Biomedical Research Office (OIB-FICYT), Rosal, 7. 33009 Oviedo, Principality of Asturias, Spain.

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http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-1
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http://dx.doi.org/10.1186/1750-1172-6-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3094201PMC
April 2011