Valeria Pensotti

Valeria Pensotti

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Valeria Pensotti

Valeria Pensotti

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Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis.

Tumori 2019 May 8:300891619847085. Epub 2019 May 8.

1 Unit of Hereditary Digestive Tract Tumors, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

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http://dx.doi.org/10.1177/0300891619847085DOI Listing
May 2019

homozygous unclassified variant in a patient with non-Fanconi anemia: A case report.

Oncol Lett 2018 03 28;15(3):3329-3332. Epub 2017 Dec 28.

Division of Cancer Prevention and Genetics, European Oncologic Institute, I-20141 Milan, Italy.

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http://dx.doi.org/10.3892/ol.2017.7711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778837PMC
March 2018

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

Authors:
Valentina Silvestri Daniel Barrowdale Anna Marie Mulligan Susan L Neuhausen Stephen Fox Beth Y Karlan Gillian Mitchell Paul James Darcy L Thull Kristin K Zorn Natalie J Carter Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Susan J Ramus Robert L Nussbaum Olufunmilayo I Olopade Johanna Rantala Sook-Yee Yoon Maria A Caligo Laura Spugnesi Anders Bojesen Inge Sokilde Pedersen Mads Thomassen Uffe Birk Jensen Amanda Ewart Toland Leigha Senter Irene L Andrulis Gord Glendon Peter J Hulick Evgeny N Imyanitov Mark H Greene Phuong L Mai Christian F Singer Christine Rappaport-Fuerhauser Gero Kramer Joseph Vijai Kenneth Offit Mark Robson Anne Lincoln Lauren Jacobs Eva Machackova Lenka Foretova Marie Navratilova Petra Vasickova Fergus J Couch Emily Hallberg Kathryn J Ruddy Priyanka Sharma Sung-Won Kim Manuel R Teixeira Pedro Pinto Marco Montagna Laura Matricardi Adalgeir Arason Oskar Th Johannsson Rosa B Barkardottir Anna Jakubowska Jan Lubinski Angel Izquierdo Miguel Angel Pujana Judith Balmaña Orland Diez Gabriella Ivady Janos Papp Edith Olah Ava Kwong Heli Nevanlinna Kristiina Aittomäki Pedro Perez Segura Trinidad Caldes Tom Van Maerken Bruce Poppe Kathleen B M Claes Claudine Isaacs Camille Elan Christine Lasset Dominique Stoppa-Lyonnet Laure Barjhoux Muriel Belotti Alfons Meindl Andrea Gehrig Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Eric Hahnen Karin Kast Norbert Arnold Raymonda Varon-Mateeva Dorothea Wand Andrew K Godwin D Gareth Evans Debra Frost Jo Perkins Julian Adlard Louise Izatt Radka Platte Ros Eeles Steve Ellis Ute Hamann Judy Garber Florentia Fostira George Fountzilas Barbara Pasini Giuseppe Giannini Piera Rizzolo Antonio Russo Laura Cortesi Laura Papi Liliana Varesco Domenico Palli Ines Zanna Antonella Savarese Paolo Radice Siranoush Manoukian Bernard Peissel Monica Barile Bernardo Bonanni Alessandra Viel Valeria Pensotti Stefania Tommasi Paolo Peterlongo Jeffrey N Weitzel Ana Osorio Javier Benitez Lesley McGuffog Sue Healey Anne-Marie Gerdes Bent Ejlertsen Thomas V O Hansen Linda Steele Yuan Chun Ding Nadine Tung Ramunas Janavicius David E Goldgar Saundra S Buys Mary B Daly Anita Bane Mary Beth Terry Esther M John Melissa Southey Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Laura Ottini

Breast Cancer Res 2016 Feb 9;18(1):15. Epub 2016 Feb 9.

Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161, Rome, Italy.

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http://dx.doi.org/10.1186/s13058-016-0671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746828PMC
February 2016

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

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

Authors:
Nick Orr Frank Dudbridge Nicola Dryden Sarah Maguire Daniela Novo Eleni Perrakis Nichola Johnson Maya Ghoussaini John L Hopper Melissa C Southey Carmel Apicella Jennifer Stone Marjanka K Schmidt Annegien Broeks Laura J Van't Veer Frans B Hogervorst Peter A Fasching Lothar Haeberle Arif B Ekici Matthias W Beckmann Lorna Gibson Zoe Aitken Helen Warren Elinor Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Barbara Burwinkel Frederik Marme Andreas Schneeweiss Chistof Sohn Pascal Guénel Thérèse Truong Emilie Cordina-Duverger Marie Sanchez Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Javier Benitez Maria Pilar Zamora Jose Ignacio Arias Perez Primitiva Menéndez Hoda Anton-Culver Susan L Neuhausen Hermann Brenner Aida Karina Dieffenbach Volker Arndt Christa Stegmaier Ute Hamann Hiltrud Brauch Christina Justenhoven Thomas Brüning Yon-Dschun Ko Heli Nevanlinna Kristiina Aittomäki Carl Blomqvist Sofia Khan Natalia Bogdanova Thilo Dörk Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Georgia Chenevix-Trench Jonathan Beesley Diether Lambrechts Matthieu Moisse Guiseppe Floris Benoit Beuselinck Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Paolo Radice Paolo Peterlongo Bernard Peissel Valeria Pensotti Fergus J Couch Janet E Olson Seth Slettedahl Celine Vachon Graham G Giles Roger L Milne Catriona McLean Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Jacques Simard Mark S Goldberg France Labrèche Martine Dumont Vessela Kristensen Grethe Grenaker Alnæs Silje Nord Anne-Lise Borresen-Dale Wei Zheng Sandra Deming-Halverson Martha Shrubsole Jirong Long Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Irene L Andrulis Julia A Knight Gord Glendon Sandrine Tchatchou Peter Devilee Robertus A E M Tollenaar Caroline M Seynaeve Christi J Van Asperen Montserrat Garcia-Closas Jonine Figueroa Stephen J Chanock Jolanta Lissowska Kamila Czene Hatef Darabi Mikael Eriksson Daniel Klevebring Maartje J Hooning Antoinette Hollestelle Carolien H M van Deurzen Mieke Kriege Per Hall Jingmei Li Jianjun Liu Keith Humphreys Angela Cox Simon S Cross Malcolm W R Reed Paul D P Pharoah Alison M Dunning Mitul Shah Barbara J Perkins Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Alan Ashworth Anthony Swerdlow Michael Jones Minouk J Schoemaker Alfons Meindl Rita K Schmutzler Curtis Olswold Susan Slager Amanda E Toland Drakoulis Yannoukakos Kenneth Muir Artitaya Lophatananon Sarah Stewart-Brown Pornthep Siriwanarangsan Keitaro Matsuo Hidema Ito Hiroji Iwata Junko Ishiguro Anna H Wu Chiu-Chen Tseng David Van Den Berg Daniel O Stram Soo Hwang Teo Cheng Har Yip Peter Kang Mohammad Kamran Ikram Xiao-Ou Shu Wei Lu Yu-Tang Gao Hui Cai Daehee Kang Ji-Yeob Choi Sue K Park Dong-Young Noh Mikael Hartman Hui Miao Wei Yen Lim Soo Chin Lee Suleeporn Sangrajrang Valerie Gaborieau Paul Brennan James Mckay Pei-Ei Wu Ming-Feng Hou Jyh-Cherng Yu Chen-Yang Shen William Blot Qiuyin Cai Lisa B Signorello Craig Luccarini Caroline Bayes Shahana Ahmed Mel Maranian Catherine S Healey Anna González-Neira Guillermo Pita M Rosario Alonso Nuria Álvarez Daniel Herrero Daniel C Tessier Daniel Vincent Francois Bacot David J Hunter Sara Lindstrom Joe Dennis Kyriaki Michailidou Manjeet K Bolla Douglas F Easton Isabel dos Santos Silva Olivia Fletcher Julian Peto

Hum Mol Genet 2015 May 4;24(10):2966-84. Epub 2015 Feb 4.

Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.

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https://hmg.oxfordjournals.org/content/early/2015/03/05/hmg.
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddv035
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http://dx.doi.org/10.1093/hmg/ddv035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406292PMC
May 2015

Prediction of breast cancer risk based on profiling with common genetic variants.

Authors:
Nasim Mavaddat Paul D P Pharoah Kyriaki Michailidou Jonathan Tyrer Mark N Brook Manjeet K Bolla Qin Wang Joe Dennis Alison M Dunning Mitul Shah Robert Luben Judith Brown Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Kamila Czene Hatef Darabi Mikael Eriksson Julian Peto Isabel Dos-Santos-Silva Frank Dudbridge Nichola Johnson Marjanka K Schmidt Annegien Broeks Senno Verhoef Emiel J Rutgers Anthony Swerdlow Alan Ashworth Nick Orr Minouk J Schoemaker Jonine Figueroa Stephen J Chanock Louise Brinton Jolanta Lissowska Fergus J Couch Janet E Olson Celine Vachon Vernon S Pankratz Diether Lambrechts Hans Wildiers Chantal Van Ongeval Erik van Limbergen Vessela Kristensen Grethe Grenaker Alnæs Silje Nord Anne-Lise Borresen-Dale Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Peter A Fasching Lothar Haeberle Arif B Ekici Matthias W Beckmann Barbara Burwinkel Frederik Marme Andreas Schneeweiss Christof Sohn Amy Trentham-Dietz Polly Newcomb Linda Titus Kathleen M Egan David J Hunter Sara Lindstrom Rulla M Tamimi Peter Kraft Nazneen Rahman Clare Turnbull Anthony Renwick Sheila Seal Jingmei Li Jianjun Liu Keith Humphreys Javier Benitez M Pilar Zamora Jose Ignacio Arias Perez Primitiva Menéndez Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Natalia V Bogdanova Natalia N Antonenkova Thilo Dörk Hoda Anton-Culver Susan L Neuhausen Argyrios Ziogas Leslie Bernstein Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J van Asperen Angela Cox Simon S Cross Malcolm W R Reed Elza Khusnutdinova Marina Bermisheva Darya Prokofyeva Zalina Takhirova Alfons Meindl Rita K Schmutzler Christian Sutter Rongxi Yang Peter Schürmann Michael Bremer Hans Christiansen Tjoung-Won Park-Simon Peter Hillemanns Pascal Guénel Thérèse Truong Florence Menegaux Marie Sanchez Paolo Radice Paolo Peterlongo Siranoush Manoukian Valeria Pensotti John L Hopper Helen Tsimiklis Carmel Apicella Melissa C Southey Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Alice J Sigurdson Michele M Doody Ute Hamann Diana Torres Hans-Ulrich Ulmer Asta Försti Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Irene L Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Georgia Chenevix-Trench Rosemary Balleine Graham G Giles Roger L Milne Catriona McLean Annika Lindblom Sara Margolin Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Ursula Eilber Shan Wang-Gohrke Maartje J Hooning Antoinette Hollestelle Ans M W van den Ouweland Linetta B Koppert Jane Carpenter Christine Clarke Rodney Scott Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Hermann Brenner Volker Arndt Christa Stegmaier Aida Karina Dieffenbach Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Kenneth Offit Joseph Vijai Mark Robson Rohini Rau-Murthy Miriam Dwek Ruth Swann Katherine Annie Perkins Mark S Goldberg France Labrèche Martine Dumont Diana M Eccles William J Tapper Sajjad Rafiq Esther M John Alice S Whittemore Susan Slager Drakoulis Yannoukakos Amanda E Toland Song Yao Wei Zheng Sandra L Halverson Anna González-Neira Guillermo Pita M Rosario Alonso Nuria Álvarez Daniel Herrero Daniel C Tessier Daniel Vincent Francois Bacot Craig Luccarini Caroline Baynes Shahana Ahmed Mel Maranian Catherine S Healey Jacques Simard Per Hall Douglas F Easton Montserrat Garcia-Closas

J Natl Cancer Inst 2015 May 8;107(5). Epub 2015 Apr 8.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK (NM, PDPP, KM, MKB, QW, JD, RL, JBr, DFE); Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK (PDPP, JT, AMD, MS, CL, CB, SA, MM, CSH, DFE); Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK (MNB, ASw, MJS); Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark (SEB, BGN, SFN); Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Herlev, Denmark (SEB, BGN, SFN); Faculty of Health and Medical Sciences, Copenhagen University Hospital, Copenhagen, Herlev, Denmark (SEB, BGN); Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Herlev, Denmark (HF); Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden (KC, HD, ME, KH, PHa); Department of Non-communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK (JP, IdSS, FD); Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK (NJ, AA, NO, MGC); Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, the Netherlands (MKS, AB, SV, EJR); Division of Breast Cancer Research, Institute of Cancer Research, London, UK (ASw); Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD (JF, SJC, LB, ASi, MD); Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland (JLis); Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN (FJC); Department of Health Sciences Research, Mayo Clinic, Rochester, MN (JEO, CV, VSP, SS); Vesalius Research Center, VIB, Leuven, Belgium (DL); Laboratory for Translational Genetics, Department of Oncology, University of

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https://www.repository.cam.ac.uk/bitstream/handle/1810/24770
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http://jnci.oxfordjournals.org/cgi/doi/10.1093/jnci/djv036
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http://dx.doi.org/10.1093/jnci/djv036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754625PMC
May 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

Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability.

Fam Cancer 2015 Mar;14(1):117-28

Department of Preventive and Predictive Medicine, Fondazione IRCSS Istituto Nazionale dei Tumori, Via Venezian 1, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s10689-014-9766-8DOI Listing
March 2015

Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

PLoS One 2014 6;9(2):e86924. Epub 2014 Feb 6.

Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), c/o Amadeolab, Milano, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086924PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3916327PMC
January 2015

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.

Authors:
Nichola Johnson Frank Dudbridge Nick Orr Lorna Gibson Michael E Jones Minouk J Schoemaker Elizabeth J Folkerd Ben P Haynes John L Hopper Melissa C Southey Gillian S Dite Carmel Apicella Marjanka K Schmidt Annegien Broeks Laura J Van't Veer Femke Atsma Kenneth Muir Artitaya Lophatananon Peter A Fasching Matthias W Beckmann Arif B Ekici Stefan P Renner Elinor Sawyer Ian Tomlinson Michael Kerin Nicola Miller Barbara Burwinkel Frederik Marme Andreas Schneeweiss Christof Sohn Pascal Guénel Therese Truong Emilie Cordina Florence Menegaux Stig E Bojesen Børge G Nordestgaard Henrik Flyger Roger Milne M Pilar Zamora Jose Ignacio Arias Perez Javier Benitez Leslie Bernstein Hoda Anton-Culver Argyrios Ziogas Christina Clarke Dur Hermann Brenner Heiko Müller Volker Arndt Aida Karina Dieffenbach Alfons Meindl Joerg Heil Claus R Bartram Rita K Schmutzler Hiltrud Brauch Christina Justenhoven Yon-Dschun Ko Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Keitaro Matsuo Thilo Dörk Natalia V Bogdanova Natalia N Antonenkova Annika Lindblom Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Georgia Chenevix-Trench Jonathan Beesley Anna H Wu David Van den Berg Chiu-Chen Tseng Diether Lambrechts Dominiek Smeets Patrick Neven Hans Wildiers Jenny Chang-Claude Anja Rudolph Stefan Nickels Dieter Flesch-Janys Paolo Radice Paolo Peterlongo Bernardo Bonanni Valeria Pensotti Fergus J Couch Janet E Olson Xianshu Wang Zachary Fredericksen Vernon S Pankratz Graham G Giles Gianluca Severi Laura Baglietto Chris Haiman Jacques Simard Mark S Goldberg France Labrèche Martine Dumont Penny Soucy Soo Teo Cheng Har Yip Sze Yee Phuah Belinda K Cornes Vessela N Kristensen Grethe Grenaker Alnæs Anne-Lise Børresen-Dale Wei Zheng Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Irene L Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Peter Devillee Jonine Figueroa Stephen J Chanock Jolanta Lissowska Mark E Sherman Per Hall Nils Schoof Maartje Hooning Antoinette Hollestelle Rogier A Oldenburg Madeleine Tilanus-Linthorst Jianjun Liu Angie Cox Ian W Brock Malcolm W R Reed Simon S Cross William Blot Lisa B Signorello Paul D P Pharoah Alison M Dunning Mitul Shah Daehee Kang Dong-Young Noh Sue K Park Ji-Yeob Choi Mikael Hartman Hui Miao Wei Yen Lim Anthony Tang Ute Hamann Asta Försti Thomas Rüdiger Hans Ulrich Ulmer Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Suleeporn Sangrajrang Valerie Gaborieau Paul Brennan James McKay Susan Slager Amanda E Toland Celine Vachon Drakoulis Yannoukakos Chen-Yang Shen Jyh-Cherng Yu Chiun-Sheng Huang Ming-Feng Hou Anna González-Neira Daniel C Tessier Daniel Vincent Francois Bacot Craig Luccarini Joe Dennis Kyriaki Michailidou Manjeet K Bolla Jean Wang Douglas F Easton Montserrat García-Closas Mitch Dowsett Alan Ashworth Anthony J Swerdlow Julian Peto Isabel dos Santos Silva Olivia Fletcher

Breast Cancer Res 2014 May 26;16(3):R51. Epub 2014 May 26.

Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, 237 Fulham Road, London, SW3 6JB, UK.

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http://dx.doi.org/10.1186/bcr3662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4522594PMC
May 2014

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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http://dx.doi.org/10.1371/journal.pgen.1003212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609646PMC
June 2013

X chromosome inactivation pattern in BRCA gene mutation carriers.

Eur J Cancer 2013 Mar 9;49(5):1136-41. Epub 2012 Nov 9.

Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejca.2012.10.013DOI Listing
March 2013

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

No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women.

Breast Cancer Res Treat 2011 Feb 17;126(1):235-9. Epub 2010 Dec 17.

Genetics and Population Health Division, Queensland Institute of Medical Research, Herston, 4006, Brisbane, Australia.

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http://link.springer.com/10.1007/s10549-010-1292-2
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http://dx.doi.org/10.1007/s10549-010-1292-2DOI Listing
February 2011

Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families.

Eur J Cancer 2007 Feb 16;43(3):601-6. Epub 2007 Jan 16.

Medical Genetics Service, Department of Experimental Oncology and Laboratories, Istituto Nazionale Tumori, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejca.2006.09.024DOI Listing
February 2007