Journal ArticleDOI
A polymorphic stop codon in BRCA2
Sylvie Mazoyer,Sylvie Mazoyer,Alison M. Dunning,Olga Serova,Olga Serova,Joanna Dearden,Nadine Puget,Nadine Puget,Catherine S. Healey,Simon A. Gayther,Jonathan Mangion,Michael R. Stratton,Henry T. Lynch,David E. Goldgar,Bruce A.J. Ponder,Gilbert M. Lenoir,Gilbert M. Lenoir +16 more
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This article is published in Nature Genetics.The article was published on 1996-11-01. It has received 165 citations till now. The article focuses on the topics: Stop codon.read more
Citations
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Polymorphisms in DNA repair genes and associations with cancer risk.
TL;DR: It is concluded that large, well-designed studies of common polymorphisms in DNA repair genes are needed and such studies may benefit from analysis of multiple genes or polymorphisms and from the consideration of relevant exposures that may influence the likelihood of cancer in the presence of reduced DNA repair capacity.
Journal ArticleDOI
Biallelic Inactivation of BRCA2 in Fanconi Anemia
Niall G. Howlett,Toshiyasu Taniguchi,Susan B. Olson,Barbara Cox,Quinten Waisfisz,Christine E. M. de Die-Smulders,Nicole Persky,Markus Grompe,Hans Joenje,Gerard Pals,Hideyuki Ikeda,Edward A. Fox,Alan D. D'Andrea +12 more
TL;DR: It is shown that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRC a2 proteins, which may result in cancer risks similar to those observed in families withBRCA1 or BRCa2 mutations.
Journal ArticleDOI
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Kyriaki Michailidou,Per Hall,Anna González-Neira,Maya Ghoussaini,Joe Dennis,Roger L. Milne,Marjanka K. Schmidt,Jenny Chang-Claude,Stig E. Bojesen,Manjeet K. Bolla,Qin Wang,Ed Dicks,Andy C. H. Lee,Clare Turnbull,Nazneen Rahman,Olivia Fletcher,Julian Peto,Lorna Gibson,Isabel dos Santos Silva,Heli Nevanlinna,Taru A. Muranen,Kristiina Aittomäki,Carl Blomqvist,Kamila Czene,Astrid K. Irwanto,Jianjun Liu,Quinten Waisfisz,Hanne Meijers-Heijboer,Muriel A. Adank,Rob B. van der Luijt,Rebecca Hein,N. Dahmen,Lars Beckman,Alfons Meindl,Rita K. Schmutzler,Bertram Müller-Myhsok,Peter Lichtner,John L. Hopper,Melissa C. Southey,Enes Makalic,Daniel F. Schmidt,Andre G. Uitterlinden,Albert Hofman,David J. Hunter,Stephen J. Chanock,Daniel Vincent,Francois Bacot,Daniel C. Tessier,Sander Canisius,Lodewyk F. A. Wessels,Christopher A. Haiman,Mitul Shah,Robert Luben,Judith E. Brown,Craig Luccarini,Nils Schoof,Keith Humphreys,Jingmei Li,Børge G. Nordestgaard,Sune F. Nielsen,Henrik Flyger,Fergus J. Couch,Xianshu Wang,Celine M. Vachon,Kristen N. Stevens,Diether Lambrechts,Matthieu Moisse,Robert Paridaens,Marie Rose Christiaens,Anja Rudolph,Stefan Nickels,Dieter Flesch-Janys,Dieter Flesch-Janys,Dieter Flesch-Janys,Nichola Johnson,Zoe Aitken,Kirsimari Aaltonen,Kirsimari Aaltonen,Tuomas Heikkinen,Annegien Broeks,Laura J. Van 'T Veer,C. Ellen van der Schoot,Pascal Guénel,Thérèse Truong,Pierre Laurent-Puig,Florence Menegaux,Frederik Marmé,Andreas Schneeweiss,Christof Sohn,Barbara Burwinkel,M. Pilar Zamora,Jose Ignacio Arias Perez,Guillermo Pita,M. Rosario Alonso,Angela Cox,Ian W. Brock,Simon S. Cross,Malcolm W.R. Reed,Elinor J. Sawyer,Ian Tomlinson,Michael J. Kerin,Nicola Miller,Brian E. Henderson,Fredrick R. Schumacher,Loic Le Marchand,Irene L. Andrulis,Julia A. Knight,Gord Glendon,Anna Marie Mulligan,Annika Lindblom,Sara Margolin,Maartje J. Hooning,Antoinette Hollestelle,Ans M.W. van den Ouweland,Agnes Jager,Quang M. Bui,Jennifer Stone,Gillian S. Dite,Carmel Apicella,Helen Tsimiklis,Graham G. Giles,Gianluca Severi,Laura Baglietto,Peter A. Fasching,Lothar Haeberle,Arif B. Ekici,Matthias W. Beckmann,Hermann Brenner,Heiko Müller,Volker Arndt,Christa Stegmaier,Anthony J. Swerdlow,Alan Ashworth,Nick Orr,Michael Jones,Jonine D. Figueroa,Jolanta Lissowska,Louise A. Brinton,Mark S. Goldberg,Martine Dumont,Robert Winqvist,Katri Pylkäs,Arja Jukkola-Vuorinen,Mervi Grip,Hiltrud Brauch,Ute Hamann,Thomas Brüning,Paolo Radice,Paolo Peterlongo,Siranoush Manoukian,Bernardo Bonanni,Peter Devilee,Rob A. E. M. Tollenaar,Caroline M. Seynaeve,Christi J. van Asperen,Anna Jakubowska,Jan Lubinski,Katarzyna Jaworska,Katarzyna Durda,Arto Mannermaa,Vesa Kataja,Veli-Matti Kosma,Jaana M. Hartikainen,Natalia Bogdanova,Natalia Antonenkova,Thilo Dörk,Vessela N. Kristensen,Hoda Anton-Culver,Susan L. Slager,Amanda E. Toland,Stephen Edge,Florentia Fostira,Daehee Kang,Keun-Young Yoo,Dong Young Noh,Keitaro Matsuo,Hidemi Ito,Hiroji Iwata,Aiko Sueta,Anna H. Wu,Chiu-Chen Tseng,David Van Den Berg,Daniel O. Stram,Xiao-Ou Shu,Wei Lu,Yu Tang Gao,Hui Cai,Soo Hwang Teo,Cheng Har Yip,Sze Yee Phuah,Belinda K. Cornes,Mikael Hartman,Hui Miao,Wei-Yen Lim,J. H. Sng,Kenneth Muir,Artitaya Lophatananon,Sarah Stewart-Brown,Pornthep Siriwanarangsan,Chen-Yang Shen,Chia-Ni Hsiung,Pei Ei Wu,Shian Ling Ding,Suleeporn Sangrajrang,Valerie Gaborieau,Paul Brennan,James McKay,William Blot,Lisa B. Signorello,Qiuyin Cai,Wei Zheng,Sandra Deming-Halverson,Martha J. Shrubsole,Jirong Long,Jacques Simard,M Garcia-Closas,Paul D.P. Pharoah,Georgia Chenevix-Trench,Alison M. Dunning,Javier Benitez,Douglas F. Easton +220 more
TL;DR: A meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, and identified 29,807 SNPs for further genotyping suggests that more than 1,000 additional loci are involved in breast cancer susceptibility.
Journal ArticleDOI
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
Tom Walsh,Silvia Casadei,Ming K. Lee,C. Pennil,Alexander Nord,Anne M. Thornton,Wendy Roeb,Kathy Agnew,Sunday M. Stray,Anneka Wickramanayake,Barbara M. Norquist,Kathryn P. Pennington,Rochelle L. Garcia,Mary Claire King,Elizabeth M. Swisher +14 more
TL;DR: Using targeted capture and massively parallel genomic sequencing, this paper screened for germ-line mutations in 21 tumor suppressor genes in genomic DNA from women with primary ovarian, peritoneal, or fallopian tube carcinoma.
Journal ArticleDOI
Germline and Somatic Mutations in Homologous Recombination Genes Predict Platinum Response and Survival in Ovarian, Fallopian Tube, and Peritoneal Carcinomas
Kathryn P. Pennington,Tom Walsh,Maria I. Harrell,Ming K. Lee,C. Pennil,Mara H. Rendi,Anne M. Thornton,Barbara M. Norquist,Silvia Casadei,Alexander Nord,Kathy Agnew,Colin C. Pritchard,Sheena M. Scroggins,Rochelle L. Garcia,Mary Claire King,Elizabeth M. Swisher +15 more
TL;DR: Germline or somatic mutations in homologous recombination genes are present in almost one third of ovarian carcinomas, including both serous and nonserous histologies, and the similar rate of homology recombination mutations in nonserous carcinomas supports their inclusion in PARP inhibitor clinical trials.
References
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Journal ArticleDOI
Identification of the breast cancer susceptibility gene BRCA2
Richard Wooster,Graham R. Bignell,Johnathan M. Lancaster,Sally Swift,Sheila Seal,Jonathon Mangion,N. Collins,Simon G. Gregory,Curtis Gumbs,Gos Micklem +9 more
TL;DR: The identification of a gene in which six different germline mutations in breast cancer families that are likely to be due to BRCA2 are detected, and results indicate that this is the BRC a2 gene.
Journal ArticleDOI
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.
Sean V. Tavtigian,Jacques Simard,Johanna M. Rommens,Fergus J. Couch,Donna M Shattuck-Eidens,Susan L. Neuhausen,Sofia D. Merajver,Steinunn Thorlacius,Kenneth Offit,Dominique Stoppa-Lyonnet,Carole Bélanger,Russell Bell,Simin Berry,Robert Bogden,Qian Chen,Thaylon Davis,Martine Dumont,Cheryl Frye,T. Hattier,Srikanth Jammulapati,Teresa Janecki,Ping Jiang,Robert Kehrer,J.-F. Leblanc,J.T. Mitchell,Jodi Mcarthur-Morrison,K. Nguyen,Yi Peng,Chantal Samson,Marianne Schroeder,S.C. Snyder,Linda Steele,M. Stringfellow,C. Stroup,Bradley D. Swedlund,J. Swense,David H. F. Teng,Alun Thomas,T.D. Tran,Martine Tranchant,Jane Weaver-Feldhaus,Alexander K. C. Wong,Hiroaki Shizuya,Jorunn E. Eyfjord,Lisa A. Cannon-Albright,Fernand Labrie,Mark H. Skolnick,Mark H. Skolnick,Barbara L. Weber,Alexander Kamb,David E. Goldgar,David E. Goldgar +51 more
TL;DR: The complete coding sequence and exonic structure of BRCA2 is determined, and its pattern of expression is examined, and a mutational analysis of B RCA2 in families selected on the basis of linkage analysis and/or the presence of one or more cases of male breast cancer is reported.
Journal ArticleDOI
BRCA2 germline mutations in male breast cancer cases and breast cancer families.
Fergus J. Couch,Linda M. Farid,Michelle L. Deshano,Sean V. Tavtigian,Kathleen A. Calzone,Lisa Campeau,Yi Peng,Bert Bogden,Qian Chen,Susan L. Neuhausen,Donna M Shattuck-Eidens,Andrew K. Godwin,Mary B. Daly,Diane M. Radford,Scott Sedlacek,Johanna M. Rommens,Jacques Simard,Judy Garber,Sofia D. Merajver,Barbara L. Weber +19 more
TL;DR: Three of eleven individuals carry the same mutation, all are of Ashkenazi Jewish descent, supporting the observation by Neuhausen et al, in this issue4 that there is a common mutation in this population.
Journal ArticleDOI
Nutrition and cancer: Background and rationale of the European Prospective Investigation into Cancer and Nutrition (EPIC)
TL;DR: The rationale is presented for setting up large prospective cohort studies combining epidemiological and laboratory methods in order to expand the presently limited knowledge of the role of nutrition and related factors in cancer etiology.
Journal ArticleDOI
BRCA1 is secreted and exhibits properties of a granin
Roy A. Jensen,Marilyn E. Thompson,Thomas L. Jetton,Csilla Szabo,van der Meer R,Helou B,Tronick,David L. Page,Mary Claire King,Jeffrey T. Holt +9 more
TL;DR: It is shown that BRCA1 encodes a 190-kD protein with sequence homology and biochemical analogy to the granin protein family, which appears to function by a mechanism not previously described for tumour suppressor gene products.
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A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
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Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families
D Ford,Douglas F. Easton,Michael R. Stratton,Steven A. Narod,David E. Goldgar,Peter Devilee,D. T. Bishop,Barbara L. Weber,Gilbert M. Lenoir,Jenny Chang-Claude,Hagay Sobol,M D Teare,Jeffery P. Struewing,Adalgeir Arason,Siegfried Scherneck,Julian Peto,Timothy R. Rebbeck,Patricia N. Tonin,Susan L. Neuhausen,Rosa B. Barkardottir,Jorunn E. Eyfjord,Henry T. Lynch,Bruce A.J. Ponder,Simon A. Gayther,J.M. Birch,Annika Lindblom,Dominique Stoppa-Lyonnet,Y. J. Bignon,Åke Borg,U Hamann,Neva E. Haites,Rodney J. Scott,Christine Maugard,Hans F. A. Vasen,Susanne Seitz,Lisa A. Cannon-Albright,Andrew Craig Schofield,Moraima Zelada-Hedman +37 more
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13
Richard Wooster,Susan L. Neuhausen,Jonathan Mangion,Yvette Quirk,D Ford,N. Collins,K. Nguyen,Sheila Seal,T.D. Tran,D. Averill,P Fields,Gill Marshall,Steven A. Narod,Gilbert M. Lenoir,Henry T. Lynch,Jean Feunteun,Peter Devilee,Cees J. Cornelisse,Fred H. Menko,Peter A. Daly,Wilma Ormiston,Ross McManus,Carole Pye,Cathryn M. Lewis,Lisa A. Cannon-Albright,Julian Peto,Bruce A.J. Ponder,Mark H. Skolnick,Douglas F. Easton,David E. Goldgar,Michael R. Stratton +30 more