Publications by authors named "Maria Adelaide Caligo"

44Publications

Nutrition, epigenetic markers and growth in preterm infants.

J Matern Fetal Neonatal Med 2019 Dec 16:1-6. Epub 2019 Dec 16.

Division of Neonatology and NICU, Department of Clinical and Experimental Medicine, Pisa, Italy.

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http://dx.doi.org/10.1080/14767058.2019.1702952DOI Listing
December 2019

Effect of BRCA1 missense variants on gene reversion in DNA double-strand break repair mutants and cell cycle-arrested cells of Saccharomyces cerevisiae.

Mutagenesis 2020 03;35(2):189-195

Yeast Genetics and Genomics, Laboratory of Functional Genetics and Genomics, Institute of Clinical Physiology, CNR, Pisa, Italy.

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http://dx.doi.org/10.1093/mutage/gez043DOI Listing
March 2020

Mouse mammary tumor virus (MMTV) - like exogenous sequences are associated with sporadic but not hereditary human breast carcinoma.

Aging (Albany NY) 2019 09 13;11(17):7236-7241. Epub 2019 Sep 13.

Division of Pathology, Department of Translational Research and New Technologies in Medicine, University of Pisa, and Department of Laboratory Medicine, Pisa University Hospital, Pisa, Italy.

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http://dx.doi.org/10.18632/aging.102252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6756874PMC
September 2019

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.

JCO Precis Oncol 2018 26;2. Epub 2018 Oct 26.

Maastricht University Medical Center, Maastricht.

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http://dx.doi.org/10.1200/PO.18.00091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6742430PMC
October 2018

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Authors:
Paolo Peterlongo Irene Catucci Mara Colombo Laura Caleca Eliseos Mucaki Massimo Bogliolo Maria Marin Francesca Damiola Loris Bernard Valeria Pensotti Sara Volorio Valentina Dall'Olio Alfons Meindl Claus Bartram Christian Sutter Harald Surowy Valérie Sornin Marie-Gabrielle Dondon Séverine Eon-Marchais Dominique Stoppa-Lyonnet Nadine Andrieu Olga M Sinilnikova Gillian Mitchell Paul A James Ella Thompson Marina Marchetti Cristina Verzeroli Carmen Tartari Gabriele Lorenzo Capone Anna Laura Putignano Maurizio Genuardi Veronica Medici Isabella Marchi Massimo Federico Silvia Tognazzo Laura Matricardi Simona Agata Riccardo Dolcetti Lara Della Puppa Giulia Cini Viviana Gismondi Valeria Viassolo Chiara Perfumo Maria Antonietta Mencarelli Margherita Baldassarri Bernard Peissel Gaia Roversi Valentina Silvestri Piera Rizzolo Francesca Spina Caterina Vivanet Maria Grazia Tibiletti Maria Adelaide Caligo Gaetana Gambino Stefania Tommasi Brunella Pilato Carlo Tondini Chiara Corna Bernardo Bonanni Monica Barile Ana Osorio Javier Benitez Luisa Balestrino Laura Ottini Siranoush Manoukian Marco A Pierotti Alessandra Renieri Liliana Varesco Fergus J Couch Xianshu Wang Peter Devilee Florentine S Hilbers Christi J van Asperen Alessandra Viel Marco Montagna Laura Cortesi Orland Diez Judith Balmaña Jan Hauke Rita K Schmutzler Laura Papi Miguel Angel Pujana Conxi Lázaro Anna Falanga Kenneth Offit Joseph Vijai Ian Campbell Barbara Burwinkel Anders Kvist Hans Ehrencrona Sylvie Mazoyer Sara Pizzamiglio Paolo Verderio Jordi Surralles Peter K Rogan Paolo Radice

Hum Mol Genet 2015 Sep 30;24(18):5345-55. Epub 2015 Jun 30.

IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.

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http://dx.doi.org/10.1093/hmg/ddv251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550823PMC
September 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

Expression of human poly (ADP-ribose) polymerase 1 in Saccharomyces cerevisiae: Effect on survival, homologous recombination and identification of genes involved in intracellular localization.

Mutat Res 2015 Apr 6;774:14-24. Epub 2015 Mar 6.

Yeast Genetics and Genomics, Institute of Clinical Physiology, National Council of Research (CNR), via Moruzzi 1, 56122 Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mrfmmm.2015.02.006DOI Listing
April 2015

Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway.

Breast Cancer Res Treat 2013 Oct 9;141(3):515-22. Epub 2013 Oct 9.

Section of Genetic Oncology, University Hospital and University of Pisa, Pisa, Italy.

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http://dx.doi.org/10.1007/s10549-013-2705-9DOI Listing
October 2013

Effect of the expression of BRCA2 on spontaneous homologous recombination and DNA damage-induced nuclear foci in Saccharomyces cerevisiae.

Mutagenesis 2013 Mar 16;28(2):187-95. Epub 2013 Jan 16.

Laboratory of Genome Technology and Integrative Systems Biology, Institute of Clinical Physiology, CNR, Pisa, Italy.

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http://dx.doi.org/10.1093/mutage/ges069DOI Listing
March 2013

Effects on human transcriptome of mutated BRCA1 BRCT domain: a microarray study.

BMC Cancer 2012 May 30;12:207. Epub 2012 May 30.

Department of Experimental Pathology, Medical Biotechnology, Epidemiology and Infectious Diseases, University of Pisa, Italy.

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http://dx.doi.org/10.1186/1471-2407-12-207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3489683PMC
May 2012

BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.

Gynecol Oncol 2012 Jun 13;125(3):687-92. Epub 2012 Mar 13.

Genetics and Molecular Pathology Laboratory, Medical school of Casablanca, Casablanca, Morocco.

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http://dx.doi.org/10.1016/j.ygyno.2012.03.007DOI Listing
June 2012

Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells.

Breast Cancer Res Treat 2011 Oct 14;129(3):1001-9. Epub 2011 Jun 14.

Sezione Genetica Oncologica Divisione di Patologia, Dipartimento di Medicina di Laboratorio Università di Pisa e Azienda Ospedaliero Universitaria, via Roma 57, Pisa, Italy.

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http://dx.doi.org/10.1007/s10549-011-1607-yDOI Listing
October 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

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

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing.

Authors:
Paul D P Pharoah Rachel T Palmieri Susan J Ramus Simon A Gayther Irene L Andrulis Hoda Anton-Culver Natalia Antonenkova Antonis C Antoniou David Goldgar Mary S Beattie Matthias W Beckmann Michael J Birrer Natalia Bogdanova Kelly L Bolton Wendy Brewster Angela Brooks-Wilson Robert Brown Ralf Butzow Trinidad Caldes Maria Adelaide Caligo Ian Campbell Jenny Chang-Claude Y Ann Chen Linda S Cook Fergus J Couch Daniel W Cramer Julie M Cunningham Evelyn Despierre Jennifer A Doherty Thilo Dörk Matthias Dürst Diana M Eccles Arif B Ekici Douglas Easton Peter A Fasching Anna de Fazio David A Fenstermacher James M Flanagan Brooke L Fridley Eitan Friedman Bo Gao Olga Sinilnikova Aleksandra Gentry-Maharaj Andrew K Godwin Ellen L Goode Marc T Goodman Jenny Gross Thomas V O Hansen Paul Harnett Matti Rookus Tuomas Heikkinen Rebecca Hein Claus Høgdall Estrid Høgdall Edwin S Iversen Anna Jakubowska Sharon E Johnatty Beth Y Karlan Noah D Kauff Stanley B Kaye Georgia Chenevix-Trench Linda E Kelemen Lambertus A Kiemeney Susanne Krüger Kjaer Diether Lambrechts James P Lapolla Conxi Lázaro Nhu D Le Arto Leminen Karin Leunen Douglas A Levine Yi Lu Lene Lundvall Stuart Macgregor Tamara Marees Leon F Massuger John R McLaughlin Usha Menon Marco Montagna Kirsten B Moysich Steven A Narod Katherine L Nathanson Lotte Nedergaard Roberta B Ness Heli Nevanlinna Stefan Nickels Ana Osorio Jim Paul Celeste Leigh Pearce Catherine M Phelan Malcolm C Pike Paolo Radice Mary Anne Rossing Joellen M Schildkraut Thomas A Sellers Christian F Singer Honglin Song Daniel O Stram Rebecca Sutphen Annika Lindblom Kathryn L Terry Ya-Yu Tsai Anne M van Altena Ignace Vergote Robert A Vierkant Allison F Vitonis Christine Walsh Shan Wang-Gohrke Barbara Wappenschmidt Anna H Wu Argyrios Ziogas Andrew Berchuck Harvey A Risch

Clin Cancer Res 2011 Jun 8;17(11):3742-50. Epub 2011 Mar 8.

Department of Oncology, University of Cambridge, Cambridge, United Kingdom.

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http://clincancerres.aacrjournals.org/content/17/11/3742.ful
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http://clincancerres.aacrjournals.org/cgi/doi/10.1158/1078-0
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http://dx.doi.org/10.1158/1078-0432.CCR-10-3405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107901PMC
June 2011

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Susan J Ramus Christiana Kartsonaki Simon A Gayther Paul D P Pharoah Olga M Sinilnikova Jonathan Beesley Xiaoqing Chen Lesley McGuffog Sue Healey Fergus J Couch Xianshu Wang Zachary Fredericksen Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Gaia Roversi Monica Barile Alessandra Viel Anna Allavena Laura Ottini Laura Papi Viviana Gismondi Fabio Capra Paolo Radice Mark H Greene Phuong L Mai Irene L Andrulis Gord Glendon Hilmi Ozcelik Mads Thomassen Anne-Marie Gerdes Torben A Kruse Dorthe Cruger Uffe Birk Jensen Maria Adelaide Caligo Håkan Olsson Ulf Kristoffersson Annika Lindblom Brita Arver Per Karlsson Marie Stenmark Askmalm Ake Borg Susan L Neuhausen Yuan Chun Ding Katherine L Nathanson Susan M Domchek Anna Jakubowska Jan Lubiński Tomasz Huzarski Tomasz Byrski Jacek Gronwald Bohdan Górski Cezary Cybulski Tadeusz Dębniak Ana Osorio Mercedes Durán Maria-Isabel Tejada Javier Benítez Ute Hamann Matti A Rookus Senno Verhoef Madeleine A Tilanus-Linthorst Maaike P Vreeswijk Danielle Bodmer Margreet G E M Ausems Theo A van Os Christi J Asperen Marinus J Blok Hanne E J Meijers-Heijboer Susan Peock Margaret Cook Clare Oliver Debra Frost Alison M Dunning D Gareth Evans Ros Eeles Gabriella Pichert Trevor Cole Shirley Hodgson Carole Brewer Patrick J Morrison Mary Porteous M John Kennedy Mark T Rogers Lucy E Side Alan Donaldson Helen Gregory Andrew Godwin Dominique Stoppa-Lyonnet Virginie Moncoutier Laurent Castera Sylvie Mazoyer Laure Barjhoux Valérie Bonadona Dominique Leroux Laurence Faivre Rosette Lidereau Catherine Nogues Yves-Jean Bignon Fabienne Prieur Marie-Agnès Collonge-Rame Laurence Venat-Bouvet Sandra Fert-Ferrer Alex Miron Saundra S Buys John L Hopper Mary B Daly Esther M John Mary Beth Terry David Goldgar Thomas v O Hansen Lars Jønson Bent Ejlertsen Bjarni A Agnarsson Kenneth Offit Tomas Kirchhoff Joseph Vijai Ana V C Dutra-Clarke Jennifer A Przybylo Marco Montagna Cinzia Casella Evgeny N Imyanitov Ramunas Janavicius Ignacio Blanco Conxi Lázaro Kirsten B Moysich Beth Y Karlan Jenny Gross Mary S Beattie Rita Schmutzler Barbara Wappenschmidt Alfons Meindl Ina Ruehl Britta Fiebig Christian Sutter Norbert Arnold Helmut Deissler Raymonda Varon-Mateeva Karin Kast Dieter Niederacher Dorothea Gadzicki Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Kristiina Aittomäki Jacques Simard Penny Soucy Amanda B Spurdle Helene Holland Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou

J Natl Cancer Inst 2011 Jan 17;103(2):105-16. Epub 2010 Dec 17.

Department of Gynaecological Oncology, UCL EGA Institute for Women's Health, University College London, London, UK.

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http://dx.doi.org/10.1093/jnci/djq494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107565PMC
January 2011

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.

Breast Cancer Res 2010 29;12(6):R102. Epub 2010 Nov 29.

Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia.

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http://dx.doi.org/10.1186/bcr2785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046447PMC
September 2011

PALB2: a novel inactivating mutation in a Italian breast cancer family.

Fam Cancer 2010 Dec;9(4):531-6

Section of Genetic Oncology, Department of Laboratory Medicine, University of Pisa and Santa Chiara University Hospital, Pisa, Italy.

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http://dx.doi.org/10.1007/s10689-010-9382-1DOI Listing
December 2010

A recombination-based method to characterize human BRCA1 missense variants.

Breast Cancer Res Treat 2011 Jan 25;125(1):265-72. Epub 2010 Aug 25.

Section of Genetic Oncology, University Hospital and University of Pisa, Pisa, Italy.

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http://link.springer.com/content/pdf/10.1007/s10549-010-1112
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http://link.springer.com/10.1007/s10549-010-1112-8
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http://dx.doi.org/10.1007/s10549-010-1112-8DOI Listing
January 2011

Feline immunodeficiency virus vector as a tool for preventative strategies against human breast cancer.

Vet Immunol Immunopathol 2010 Mar 14;134(1-2):132-7. Epub 2009 Oct 14.

Retrovirus Center and Virology Section, Department of Experimental Pathology, University of Pisa, Pisa, Italy.

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http://dx.doi.org/10.1016/j.vetimm.2009.10.018DOI Listing
March 2010

Characterisation of gene expression profiles of yeast cells expressing BRCA1 missense variants.

Eur J Cancer 2009 Aug 1;45(12):2187-96. Epub 2009 Jun 1.

Department of Experimental Pathology, Medical Biotechnology, Epidemiology and Infectious Diseases, University of Pisa, via Roma 55, 56126 Pisa, Italy.

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http://dx.doi.org/10.1016/j.ejca.2009.04.025DOI Listing
August 2009

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

Hum Mutat 2009 Jan;30(1):123-33

Sezione Genetica Oncologica Divisione di Patologia Dipartimento di Oncologia Università di Pisa, Pisa, Italy.

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http://doi.wiley.com/10.1002/humu.20817
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http://dx.doi.org/10.1002/humu.20817DOI Listing
January 2009

Identification of novel alternatively spliced BRCA1-associated RING domain (BARD1) messenger RNAs in human peripheral blood lymphocytes and in sporadic breast cancer tissues.

Genes Chromosomes Cancer 2007 Sep;46(9):791-5

Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Via Roma 57, 56126 Pisa, Italy.

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http://dx.doi.org/10.1002/gcc.20460DOI Listing
September 2007

High level of messenger RNA for BRMS1 in primary breast carcinomas is associated with poor prognosis.

Int J Cancer 2007 Mar;120(6):1169-78

Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Via Roma 57, 56126 Pisa, Italy.

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http://dx.doi.org/10.1002/ijc.22379DOI Listing
March 2007

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

Cancer Genet Cytogenet 2006 Oct;170(2):93-101

Section of Genetic Oncology, Division of Surgical, Molecular and Ultrastructural Pathology, University of Pisa and Pisa University Hospital, Via Roma, Pisa, Italy.

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http://dx.doi.org/10.1016/j.cancergencyto.2006.05.005DOI Listing
October 2006

Aberrant expression of BARD1 in breast and ovarian cancers with poor prognosis.

Int J Cancer 2006 Mar;118(5):1215-26

Biology of Aging Laboratory, Department of Geriatrics, Geneva University Hospitals, Chemin de petit Bel Air 2, CH-1225 Chne-Bourg/Geneva, Switzerland.

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http://dx.doi.org/10.1002/ijc.21428DOI Listing
March 2006

Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion.

Eur J Hum Genet 2004 Sep;12(9):775-7

Section of Oncogenetics, Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, Transplants and New Technologies in Medicine, University of Pisa and University Hospital of Pisa, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201223DOI Listing
September 2004