Literature DB >> 19656774

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Antonis C Antoniou1, Olga M Sinilnikova, Lesley McGuffog, Sue Healey, Heli Nevanlinna, Tuomas Heikkinen, Jacques Simard, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, Susan L Neuhausen, Yuan C Ding, Fergus J Couch, Xianshu Wang, Zachary Fredericksen, Paolo Peterlongo, Bernard Peissel, Bernardo Bonanni, Alessandra Viel, Loris Bernard, Paolo Radice, Csilla I Szabo, Lenka Foretova, Michal Zikan, Kathleen Claes, Mark H Greene, Phuong L Mai, Gad Rennert, Flavio Lejbkowicz, Irene L Andrulis, Hilmi Ozcelik, Gord Glendon, Anne-Marie Gerdes, Mads Thomassen, Lone Sunde, Maria A Caligo, Yael Laitman, Tair Kontorovich, Shimrit Cohen, Bella Kaufman, Efrat Dagan, Ruth Gershoni Baruch, Eitan Friedman, Katja Harbst, Gisela Barbany-Bustinza, Johanna Rantala, Hans Ehrencrona, Per Karlsson, Susan M Domchek, Katherine L Nathanson, Ana Osorio, Ignacio Blanco, Adriana Lasa, Javier Benítez, Ute Hamann, Frans B L Hogervorst, Matti A Rookus, J Margriet Collee, Peter Devilee, Marjolijn J Ligtenberg, Rob B van der Luijt, Cora M Aalfs, Quinten Waisfisz, Juul Wijnen, Cornelis E P van Roozendaal, Susan Peock, Margaret Cook, Debra Frost, Clare Oliver, Radka Platte, D Gareth Evans, Fiona Lalloo, Rosalind Eeles, Louise Izatt, Rosemarie Davidson, Carol Chu, Diana Eccles, Trevor Cole, Shirley Hodgson, Andrew K Godwin, Dominique Stoppa-Lyonnet, Bruno Buecher, Mélanie Léoné, Brigitte Bressac-de Paillerets, Audrey Remenieras, Olivier Caron, Gilbert M Lenoir, Nicolas Sevenet, Michel Longy, Sandra Fert Ferrer, Fabienne Prieur, David Goldgar, Alexander Miron, Esther M John, Saundra S Buys, Mary B Daly, John L Hopper, Mary Beth Terry, Yosuf Yassin, Christian Singer, Daphne Gschwantler-Kaulich, Christine Staudigl, Thomas v O Hansen, Rosa Bjork Barkardottir, Tomas Kirchhoff, Prodipto Pal, Kristi Kosarin, Kenneth Offit, Marion Piedmonte, Gustavo C Rodriguez, Katie Wakeley, John F Boggess, Jack Basil, Peter E Schwartz, Stephanie V Blank, Amanda E Toland, Marco Montagna, Cinzia Casella, Evgeny N Imyanitov, Anna Allavena, Rita K Schmutzler, Beatrix Versmold, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Dieter Niederacher, Helmut Deissler, Britta Fiebig, Christian Suttner, Ines Schönbuchner, Dorothea Gadzicki, Trinidad Caldes, Miguel de la Hoya, Karen A Pooley, Douglas F Easton, Georgia Chenevix-Trench.   

Abstract

Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07-1.25, P-trend = 2.8 x 10(-4)]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04-1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04-1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98-1.14) was consistent with odds ratio estimates derived from population-based case-control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not.

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Year:  2009        PMID: 19656774      PMCID: PMC2782243          DOI: 10.1093/hmg/ddp372

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  25 in total

1.  Identification of BRCA1 and BRCA2 carriers by allele-specific gene expression (AGE) analysis.

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2.  Polygenic inheritance of breast cancer: Implications for design of association studies.

Authors:  Antonis C Antoniou; Douglas F Easton
Journal:  Genet Epidemiol       Date:  2003-11       Impact factor: 2.135

3.  A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes.

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Journal:  Genet Epidemiol       Date:  2005-07       Impact factor: 2.135

4.  Linkage strategies for genetically complex traits. I. Multilocus models.

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Authors:  K Lange; D Weeks; M Boehnke
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6.  Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.

Authors:  A Antoniou; P D P Pharoah; S Narod; H A Risch; J E Eyfjord; J L Hopper; N Loman; H Olsson; O Johannsson; A Borg; B Pasini; P Radice; S Manoukian; D M Eccles; N Tang; E Olah; H Anton-Culver; E Warner; J Lubinski; J Gronwald; B Gorski; H Tulinius; S Thorlacius; H Eerola; H Nevanlinna; K Syrjäkoski; O-P Kallioniemi; D Thompson; C Evans; J Peto; F Lalloo; D G Evans; D F Easton
Journal:  Am J Hum Genet       Date:  2003-04-03       Impact factor: 11.025

7.  The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.

Authors:  J P Struewing; P Hartge; S Wacholder; S M Baker; M Berlin; M McAdams; M M Timmerman; L C Brody; M A Tucker
Journal:  N Engl J Med       Date:  1997-05-15       Impact factor: 91.245

8.  Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study.

Authors:  J L Hopper; M C Southey; G S Dite; D J Jolley; G G Giles; M R McCredie; D F Easton; D J Venter
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  1999-09       Impact factor: 4.254

9.  Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

Authors:  Roger L Milne; Javier Benítez; Heli Nevanlinna; Tuomas Heikkinen; Kristiina Aittomäki; Carl Blomqvist; José Ignacio Arias; M Pilar Zamora; Barbara Burwinkel; Claus R Bartram; Alfons Meindl; Rita K Schmutzler; Angela Cox; Ian Brock; Graeme Elliott; Malcolm W R Reed; Melissa C Southey; Letitia Smith; Amanda B Spurdle; John L Hopper; Fergus J Couch; Janet E Olson; Xianshu Wang; Zachary Fredericksen; Peter Schürmann; Michael Bremer; Peter Hillemanns; Thilo Dörk; Peter Devilee; Christie J van Asperen; Rob A E M Tollenaar; Caroline Seynaeve; Per Hall; Kamila Czene; Jianjun Liu; Yuqing Li; Shahana Ahmed; Alison M Dunning; Melanie Maranian; Paul D P Pharoah; Georgia Chenevix-Trench; Jonathan Beesley; Natalia V Bogdanova; Natalia N Antonenkova; Iosif V Zalutsky; Hoda Anton-Culver; Argyrios Ziogas; Hiltrud Brauch; Christina Justenhoven; Yon-Dschun Ko; Susanne Haas; Peter A Fasching; Reiner Strick; Arif B Ekici; Matthias W Beckmann; Graham G Giles; Gianluca Severi; Laura Baglietto; Dallas R English; Olivia Fletcher; Nichola Johnson; Isabel dos Santos Silva; Julian Peto; Clare Turnbull; Sarah Hines; Anthony Renwick; Nazneen Rahman; Børge G Nordestgaard; Stig E Bojesen; Henrik Flyger; Daehee Kang; Keun-Young Yoo; Dong-Young Noh; Arto Mannermaa; Vesa Kataja; Veli-Matti Kosma; Montserrat García-Closas; Stephen Chanock; Jolanta Lissowska; Louise A Brinton; Jenny Chang-Claude; Shan Wang-Gohrke; Chen-Yang Shen; Hui-Chun Wang; Jyh-Cherng Yu; Sou-Tong Chen; Marina Bermisheva; Tatjana Nikolaeva; Elza Khusnutdinova; Manjeet K Humphreys; Jonathan Morrison; Radka Platte; Douglas F Easton
Journal:  J Natl Cancer Inst       Date:  2009-06-30       Impact factor: 13.506

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Authors:  Evgenia K Mikaelsdottir; Sigridur Valgeirsdottir; Jorunn E Eyfjord; Thorunn Rafnar
Journal:  Breast Cancer Res       Date:  2004-04-07       Impact factor: 6.466

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  60 in total

1.  Gene deletions and amplifications in human hepatocellular carcinomas: correlation with hepatocyte growth regulation.

Authors:  Michael A Nalesnik; George Tseng; Ying Ding; Guo-Sheng Xiang; Zhong-liang Zheng; YanPing Yu; James W Marsh; George K Michalopoulos; Jian-Hua Luo
Journal:  Am J Pathol       Date:  2012-02-08       Impact factor: 4.307

2.  Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:  Xianshu Wang; V Shane Pankratz; Zachary Fredericksen; Robert Tarrell; Mary Karaus; Lesley McGuffog; Paul D P Pharaoh; Bruce A J Ponder; Alison M Dunning; Susan Peock; Margaret Cook; Clare Oliver; Debra Frost; Olga M Sinilnikova; Dominique Stoppa-Lyonnet; Sylvie Mazoyer; Claude Houdayer; Frans B L Hogervorst; Maartje J Hooning; Marjolijn J Ligtenberg; Amanda Spurdle; Georgia Chenevix-Trench; Rita K Schmutzler; Barbara Wappenschmidt; Christoph Engel; Alfons Meindl; Susan M Domchek; Katherine L Nathanson; Timothy R Rebbeck; Christian F Singer; Daphne Gschwantler-Kaulich; Catherina Dressler; Anneliese Fink; Csilla I Szabo; Michal Zikan; Lenka Foretova; Kathleen Claes; Gilles Thomas; Robert N Hoover; David J Hunter; Stephen J Chanock; Douglas F Easton; Antonis C Antoniou; Fergus J Couch
Journal:  Hum Mol Genet       Date:  2010-04-23       Impact factor: 6.150

3.  GWAS identifies a common breast cancer risk allele among BRCA1 carriers.

Authors:  Peter Kraft; Christopher A Haiman
Journal:  Nat Genet       Date:  2010-10       Impact factor: 38.330

4.  Breast cancer susceptibility variants alter risk in familial ovarian cancer.

Authors:  A Latif; H J McBurney; S A Roberts; F Lalloo; A Howell; D G Evans; W G Newman
Journal:  Fam Cancer       Date:  2010-12       Impact factor: 2.375

5.  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
Journal:  Hum Mol Genet       Date:  2011-05-18       Impact factor: 6.150

6.  Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis.

Authors:  P A Fasching; A B Ekici; D L Wachter; A Hein; C M Bayer; L Häberle; C R Loehberg; M Schneider; S M Jud; K Heusinger; M Rübner; C Rauh; M R Bani; M P Lux; R Schulz-Wendtland; A Hartmann; M W Beckmann
Journal:  Geburtshilfe Frauenheilkd       Date:  2013-12       Impact factor: 2.915

7.  Exploring the link between germline and somatic genetic alterations in breast carcinogenesis.

Authors:  Núria Bonifaci; Bohdan Górski; Bartlomiej Masojć; Dominika Wokołorczyk; Anna Jakubowska; Tadeusz Dębniak; Antoni Berenguer; Jordi Serra Musach; Joan Brunet; Joaquín Dopazo; Steven A Narod; Jan Lubiński; Conxi Lázaro; Cezary Cybulski; Miguel Angel Pujana
Journal:  PLoS One       Date:  2010-11-22       Impact factor: 3.240

8.  Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.

Authors:  Mia M Gaudet; Tomas Kirchhoff; Todd Green; Joseph Vijai; Joshua M Korn; Candace Guiducci; Ayellet V Segrè; Kate McGee; Lesley McGuffog; Christiana Kartsonaki; Jonathan Morrison; Sue Healey; Olga M Sinilnikova; Dominique Stoppa-Lyonnet; Sylvie Mazoyer; Marion Gauthier-Villars; Hagay Sobol; Michel Longy; Marc Frenay; Frans B L Hogervorst; Matti A Rookus; J Margriet Collée; Nicoline Hoogerbrugge; Kees E P van Roozendaal; Marion Piedmonte; Wendy Rubinstein; Stacy Nerenstone; Linda Van Le; Stephanie V Blank; Trinidad Caldés; Miguel de la Hoya; Heli Nevanlinna; Kristiina Aittomäki; Conxi Lazaro; Ignacio Blanco; Adalgeir Arason; Oskar T Johannsson; Rosa B Barkardottir; Peter Devilee; Olofunmilayo I Olopade; Susan L Neuhausen; Xianshu Wang; Zachary S Fredericksen; Paolo Peterlongo; Siranoush Manoukian; Monica Barile; Alessandra Viel; Paolo Radice; Catherine M Phelan; Steven Narod; Gad Rennert; Flavio Lejbkowicz; Anath Flugelman; Irene L Andrulis; Gord Glendon; Hilmi Ozcelik; Amanda E Toland; Marco Montagna; Emma D'Andrea; Eitan Friedman; Yael Laitman; Ake Borg; Mary Beattie; Susan J Ramus; Susan M Domchek; Katherine L Nathanson; Tim Rebbeck; Amanda B Spurdle; Xiaoqing Chen; Helene Holland; Esther M John; John L Hopper; Saundra S Buys; Mary B Daly; Melissa C Southey; Mary Beth Terry; Nadine Tung; Thomas V Overeem Hansen; Finn C Nielsen; Mark H Greene; Mark I Greene; Phuong L Mai; Ana Osorio; Mercedes Durán; Raquel Andres; Javier Benítez; Jeffrey N Weitzel; Judy Garber; Ute Hamann; Susan Peock; Margaret Cook; Clare Oliver; Debra Frost; Radka Platte; D Gareth Evans; Fiona Lalloo; Ros Eeles; Louise Izatt; Lisa Walker; Jacqueline Eason; Julian Barwell; Andrew K Godwin; Rita K Schmutzler; Barbara Wappenschmidt; Stefanie Engert; Norbert Arnold; Dorothea Gadzicki; Michael Dean; Bert Gold; Robert J Klein; Fergus J Couch; Georgia Chenevix-Trench; Douglas F Easton; Mark J Daly; Antonis C Antoniou; David M Altshuler; Kenneth Offit
Journal:  PLoS Genet       Date:  2010-10-28       Impact factor: 5.917

9.  Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty.

Authors:  Quanhe Yang; W Dana Flanders; Ramal Moonesinghe; John P A Ioannidis; Idris Guessous; Muin J Khoury
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025

10.  Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.

Authors:  Susan L Neuhausen; Sean Brummel; Yuan Chun Ding; Christian F Singer; Georg Pfeiler; Henry T Lynch; Katherine L Nathanson; Timothy R Rebbeck; Judy E Garber; Fergus Couch; Jeffrey Weitzel; Steven A Narod; Patricia A Ganz; Mary B Daly; Andrew K Godwin; Claudine Isaacs; Olufunmilayo I Olopade; Gail Tomlinson; Wendy S Rubinstein; Nadine Tung; Joanne L Blum; Daniel L Gillen
Journal:  Breast Cancer Res       Date:  2009       Impact factor: 6.466

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