Lucia Guidugli

Lucia Guidugli

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Lucia Guidugli

Lucia Guidugli

Publications by authors named "Lucia Guidugli"

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Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

Authors:
Hermela Shimelis Romy L S Mesman Catharina Von Nicolai Asa Ehlen Lucia Guidugli Charlotte Martin Fabienne M G R Calléja Huong Meeks Emily Hallberg Jamie Hinton Jenna Lilyquist Chunling Hu Cora M Aalfs Kristiina Aittomäki Irene Andrulis Hoda Anton-Culver Volker Arndt Matthias W Beckmann Javier Benitez Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Anne-Lise Borresen-Dale Hiltrud Brauch Paul Brennan Hermann Brenner Annegien Broeks Barbara Brouwers Thomas Brüning Barbara Burwinkel Jenny Chang-Claude Georgia Chenevix-Trench Ching-Yu Cheng Ji-Yeob Choi J Margriet Collée Angela Cox Simon S Cross Kamila Czene Hatef Darabi Joe Dennis Thilo Dörk Isabel Dos-Santos-Silva Alison M Dunning Peter A Fasching Jonine Figueroa Henrik Flyger Montserrat García-Closas Graham G Giles Gord Glendon Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Mikael Hartman Frans B Hogervorst Antoinette Hollestelle John L Hopper Hidemi Ito Anna Jakubowska Daehee Kang Veli-Matti Kosma Vessela Kristensen Kah-Nyin Lai Diether Lambrechts Loic Le Marchand Jingmei Li Annika Lindblom Artitaya Lophatananon Jan Lubinski Eva Machackova Arto Mannermaa Sara Margolin Frederik Marme Keitaro Matsuo Hui Miao Kyriaki Michailidou Roger L Milne Kenneth Muir Susan L Neuhausen Heli Nevanlinna Janet E Olson Curtis Olswold Jan J C Oosterwijk Ana Osorio Paolo Peterlongo Julian Peto Paul D P Pharoah Katri Pylkäs Paolo Radice Muhammad Usman Rashid Valerie Rhenius Anja Rudolph Suleeporn Sangrajrang Elinor J Sawyer Marjanka K Schmidt Minouk J Schoemaker Caroline Seynaeve Mitul Shah Chen-Yang Shen Martha Shrubsole Xiao-Ou Shu Susan Slager Melissa C Southey Daniel O Stram Anthony Swerdlow Soo H Teo Ian Tomlinson Diana Torres Thérèse Truong Christi J van Asperen Lizet E van der Kolk Qin Wang Robert Winqvist Anna H Wu Jyh-Cherng Yu Wei Zheng Ying Zheng Jennifer Leary Logan Walker Lenka Foretova Florentia Fostira Kathleen B M Claes Liliana Varesco Setareh Moghadasi Douglas F Easton Amanda Spurdle Peter Devilee Harry Vrieling Alvaro N A Monteiro David E Goldgar Aura Carreira Maaike P G Vreeswijk Fergus J Couch

Cancer Res 2017 06 10;77(11):2789-2799. Epub 2017 Mar 10.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1158/0008-5472.CAN-16-2568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508554PMC
June 2017

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

Am J Hum Genet 2016 May;98(5):801-817

Department of Medicine, Division of Translational Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863474PMC
May 2016

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

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

J Clin Oncol 2015 Feb 1;33(4):304-11. Epub 2014 Dec 1.

Fergus J. Couch, Steven N. Hart, Xianshu Wang, Janet E. Olson, Vernon S. Pankratz, Curtis Olswold, Seth Slettedahl, Emily Hallberg, Lucia Guidugli, Jaime Davila, Susan L. Slager, and Celine M. Vachon, Mayo Clinic, Rochester, MN; Priyanka Sharma, Andrew K. Godwin, and Jennifer Klemp, University of Kansas Medical Center, Kansas City, KS; Amanda Ewart Toland, Robert Pilarski, and Charles L. Shapiro, Ohio State University, Columbus, OH; Penelope Miron and Judy Garber, Dana-Farber Cancer Institute, Boston, MA; Matthias W. Beckmann, Arif B. Ekici, and Peter A. Fasching, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen; Wolfgang Janni, University Hospital Ulm, Ulm; Brigitte Rack, Ludwig-Maximilians University Munich, Munich; Hiltrud Brauch, Margarete Fischer-Bosch Institute of Clinical Pharmacology, University of Tubingen, Stuttgart, and German Cancer Consortium and German Cancer Research Center, Heidelberg, Germany; Dennis J. Slamon and Peter A. Fasching, University of California, Los Angeles, Los Angeles, CA; Irene Konstantopoulou, Florentia Fostira, Athanassios Vratimos, and Drakoulis Yannoukakos, National Centre for Scientific Research "Demokritos," Athens; George Fountzilas, "Papageorgiou" Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece; Liisa M. Pelttari and Heli Nevanlinna, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland; William J. Tapper, Lorraine Durcan, and Diana M. Eccles, University of Southampton, Southampton; Simon S. Cross and Angela Cox, University of Sheffield, Sheffield, United Kingdom; and Song Yao and Christine Ambrosone, Roswell Park Cancer Institute, Buffalo, NY.

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http://jco.ascopubs.org/content/33/4/304.full.pdf
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http://jco.ascopubs.org/cgi/doi/10.1200/JCO.2014.57.1414
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http://dx.doi.org/10.1200/JCO.2014.57.1414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302212PMC
February 2015

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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http://dx.doi.org/10.1371/journal.pgen.1004256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974638PMC
April 2014

BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis.

Dev Cell 2012 Jul 5;23(1):137-52. Epub 2012 Jul 5.

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

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http://dx.doi.org/10.1016/j.devcel.2012.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3419138PMC
July 2012

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

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

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

Authors:
Antonis C Antoniou Xianshu Wang Zachary S Fredericksen Lesley McGuffog Robert Tarrell Olga M Sinilnikova Sue Healey Jonathan Morrison Christiana Kartsonaki Timothy Lesnick Maya Ghoussaini Daniel Barrowdale Susan Peock Margaret Cook Clare Oliver Debra Frost Diana Eccles D Gareth Evans Ros Eeles Louise Izatt Carol Chu Fiona Douglas Joan Paterson Dominique Stoppa-Lyonnet Claude Houdayer Sylvie Mazoyer Sophie Giraud Christine Lasset Audrey Remenieras Olivier Caron Agnès Hardouin Pascaline Berthet Frans B L Hogervorst Matti A Rookus Agnes Jager Ans van den Ouweland Nicoline Hoogerbrugge Rob B van der Luijt Hanne Meijers-Heijboer Encarna B Gómez García Peter Devilee Maaike P G Vreeswijk Jan Lubinski Anna Jakubowska Jacek Gronwald Tomasz Huzarski Tomasz Byrski Bohdan Górski Cezary Cybulski Amanda B Spurdle Helene Holland David E Goldgar Esther M John John L Hopper Melissa Southey Saundra S Buys Mary B Daly Mary-Beth Terry Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Sabine Preisler-Adams Norbert Arnold Dieter Niederacher Christian Sutter Susan M Domchek Katherine L Nathanson Timothy Rebbeck Joanne L Blum Marion Piedmonte Gustavo C Rodriguez Katie Wakeley John F Boggess Jack Basil Stephanie V Blank Eitan Friedman Bella Kaufman Yael Laitman Roni Milgrom Irene L Andrulis Gord Glendon Hilmi Ozcelik Tomas Kirchhoff Joseph Vijai Mia M Gaudet David Altshuler Candace Guiducci Niklas Loman Katja Harbst Johanna Rantala Hans Ehrencrona Anne-Marie Gerdes Mads Thomassen Lone Sunde Paolo Peterlongo Siranoush Manoukian Bernardo Bonanni Alessandra Viel Paolo Radice Trinidad Caldes Miguel de la Hoya Christian F Singer Anneliese Fink-Retter Mark H Greene Phuong L Mai Jennifer T Loud Lucia Guidugli Noralane M Lindor Thomas V O Hansen Finn C Nielsen Ignacio Blanco Conxi Lazaro Judy Garber Susan J Ramus Simon A Gayther Catherine Phelan Stephen Narod Csilla I Szabo Javier Benitez Ana Osorio Heli Nevanlinna Tuomas Heikkinen Maria A Caligo Mary S Beattie Ute Hamann Andrew K Godwin Marco Montagna Cinzia Casella Susan L Neuhausen Beth Y Karlan Nadine Tung Amanda E Toland Jeffrey Weitzel Olofunmilayo Olopade Jacques Simard Penny Soucy Wendy S Rubinstein Adalgeir Arason Gad Rennert Nicholas G Martin Grant W Montgomery Jenny Chang-Claude Dieter Flesch-Janys Hiltrud Brauch Gianluca Severi Laura Baglietto Angela Cox Simon S Cross Penelope Miron Sue M Gerty William Tapper Drakoulis Yannoukakos George Fountzilas Peter A Fasching Matthias W Beckmann Isabel Dos Santos Silva Julian Peto Diether Lambrechts Robert Paridaens Thomas Rüdiger Asta Försti Robert Winqvist Katri Pylkäs Robert B Diasio Adam M Lee Jeanette Eckel-Passow Celine Vachon Fiona Blows Kristy Driver Alison Dunning Paul P D Pharoah Kenneth Offit V Shane Pankratz Hakon Hakonarson Georgia Chenevix-Trench Douglas F Easton Fergus J Couch

Nat Genet 2010 Oct 19;42(10):885-92. Epub 2010 Sep 19.

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

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http://dx.doi.org/10.1038/ng.669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130795PMC
October 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