Literature DB >> 21393566

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.

Amanda B Spurdle1, Louise Marquart, Lesley McGuffog, Sue Healey, Olga Sinilnikova, Fei Wan, Xiaoqing Chen, Jonathan Beesley, Christian F Singer, Anne-Catharine Dressler, Daphne Gschwantler-Kaulich, Joanne L Blum, Nadine Tung, Jeff Weitzel, Henry Lynch, Judy Garber, Douglas F Easton, Susan Peock, Margaret Cook, Clare T Oliver, Debra Frost, Don Conroy, D Gareth Evans, Fiona Lalloo, Ros Eeles, Louise Izatt, Rosemarie Davidson, Carol Chu, Diana Eccles, Christina G Selkirk, Mary Daly, Claudine Isaacs, Dominique Stoppa-Lyonnet, Olga M Sinilnikova, Bruno Buecher, Muriel Belotti, Sylvie Mazoyer, Laure Barjhoux, Carole Verny-Pierre, Christine Lasset, Hélène Dreyfus, Pascal Pujol, Marie-Agnès Collonge-Rame, Matti A Rookus, Senno Verhoef, Mieke Kriege, Nicoline Hoogerbrugge, Margreet G E M Ausems, Theo A van Os, Juul Wijnen, Peter Devilee, Hanne E J Meijers-Heijboer, Marinus J Blok, Tuomas Heikkinen, Heli Nevanlinna, Anna Jakubowska, Jan Lubinski, Tomasz Huzarski, Tomasz Byrski, Francine Durocher, Fergus J Couch, Noralane M Lindor, Xianshu Wang, Mads Thomassen, Susan Domchek, Kate Nathanson, Ma Caligo, Helena Jernström, Annelie Liljegren, Hans Ehrencrona, Per Karlsson, Patricia A Ganz, Olufunmilayo I Olopade, Gail Tomlinson, Susan Neuhausen, Antonis C Antoniou, Georgia Chenevix-Trench, Timothy R Rebbeck.   

Abstract

BACKGROUND: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies.
METHODS: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated.
RESULTS: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk.
CONCLUSION: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. IMPACT: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk. ©2011 AACR.

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Year:  2011        PMID： 21393566      PMCID： PMC3089675          DOI： 10.1158/1055-9965.EPI-10-0909

Source DB:  PubMed          Journal:  Cancer Epidemiol Biomarkers Prev        ISSN： 1055-9965            Impact factor:   4.254


  20 in total

1.  Genetic analysis of case/control data using estimated haplotype frequencies: application to APOE locus variation and Alzheimer's disease.

Authors:  D Fallin; A Cohen; L Essioux; I Chumakov; M Blumenfeld; D Cohen; N J Schork
Journal:  Genome Res       Date:  2001-01       Impact factor: 9.043

2.  Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

Authors:  David E Goldgar; Douglas F Easton; Amie M Deffenbaugh; Alvaro N A Monteiro; Sean V Tavtigian; Fergus J Couch
Journal:  Am J Hum Genet       Date:  2004-08-02       Impact factor: 11.025

3.  Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer.

Authors:  S-M Karppinen; K Heikkinen; K Rapakko; R Winqvist
Journal:  J Med Genet       Date:  2004-09       Impact factor: 6.318

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

Authors:  Antonis C Antoniou; David E Goldgar; Nadine Andrieu; Jenny Chang-Claude; Richard Brohet; Matti A Rookus; Douglas F Easton
Journal:  Genet Epidemiol       Date:  2005-07       Impact factor: 2.135

5.  Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

Authors:  Georgia Chenevix-Trench; Sue Healey; Sunil Lakhani; Paul Waring; Margaret Cummings; Ross Brinkworth; Amie M Deffenbaugh; Lynn Anne Burbidge; Dmitry Pruss; Thad Judkins; Tom Scholl; Anna Bekessy; Anna Marsh; Paul Lovelock; Ming Wong; Andrea Tesoriero; Helene Renard; Melissa Southey; John L Hopper; Koulis Yannoukakos; Melissa Brown; Douglas Easton; Sean V Tavtigian; David Goldgar; Amanda B Spurdle
Journal:  Cancer Res       Date:  2006-02-15       Impact factor: 12.701

6.  Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies.

Authors:  S-M Karppinen; R B Barkardottir; K Backenhorn; T Sydenham; K Syrjäkoski; J Schleutker; T Ikonen; K Pylkäs; K Rapakko; H Erkko; G Johannesdottir; A-M Gerdes; M Thomassen; B A Agnarsson; M Grip; A Kallioniemi; J Kere; L A Aaltonen; A Arason; P Møller; T A Kruse; A Borg; R Winqvist
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

7.  Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population.

Authors:  L Excoffier; M Slatkin
Journal:  Mol Biol Evol       Date:  1995-09       Impact factor: 16.240

8.  The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysis.

Authors:  Sharon E Johnatty; Jonathan Beesley; Xiaoqing Chen; John L Hopper; Melissa C Southey; Graham G Giles; David E Goldgar; Georgia Chenevix-Trench; Amanda B Spurdle
Journal:  Breast Cancer Res Treat       Date:  2008-05-15       Impact factor: 4.872

9.  BARD1 variants are not associated with breast cancer risk in Australian familial breast cancer.

Authors:  Kylie L Gorringe; David Y H Choong; Jane E Visvader; Geoffrey J Lindeman; Ian G Campbell
Journal:  Breast Cancer Res Treat       Date:  2007-10-31       Impact factor: 4.872

10.  Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.

Authors:  Timothy R Rebbeck; Nandita Mitra; Susan M Domchek; Fei Wan; Shannon Chuai; Tara M Friebel; Saarene Panossian; Amanda Spurdle; Georgia Chenevix-Trench; Christian F Singer; Georg Pfeiler; Susan L Neuhausen; Henry T Lynch; Judy E Garber; Jeffrey N Weitzel; Claudine Isaacs; Fergus Couch; Steven A Narod; Wendy S Rubinstein; Gail E Tomlinson; Patricia A Ganz; Olufunmilayo I Olopade; Nadine Tung; Joanne L Blum; Roger Greenberg; Katherine L Nathanson; Mary B Daly
Journal:  Cancer Res       Date:  2009-07-07       Impact factor: 12.701
View more
  8 in total

1.  Lack of association between BARD1 Cys557Ser variant and breast cancer risk: a meta-analysis of 11,870 cases and 7,687 controls.

Authors:  Da-Peng Ding; Ying Zhang; Wen-Li Ma; Xiao-Feng He; Wei Wang; Hai-Lang Yu; Yu-Bo Guo; Wen-Ling Zheng
Journal:  J Cancer Res Clin Oncol       Date:  2011-08-02       Impact factor: 4.553

Review 2.  BARD1 mystery: tumor suppressors are cancer susceptibility genes.

Authors:  Yousef M Hawsawi; Anwar Shams; Abdulrahman Theyab; Wed A Abdali; Nahed A Hussien; Hanan E Alatwi; Othman R Alzahrani; Atif Abdulwahab A Oyouni; Ahmad O Babalghith; Mousa Alreshidi
Journal:  BMC Cancer       Date:  2022-06-01       Impact factor: 4.638

3.  Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes.

Authors:  Timothy R Rebbeck; Nandita Mitra; Susan M Domchek; Fei Wan; Tara M Friebel; Teo V Tran; Christian F Singer; Muy-Kheng Maria Tea; Joanne L Blum; Nadine Tung; Olufunmilayo I Olopade; Jeffrey N Weitzel; Henry T Lynch; Carrie L Snyder; Judy E Garber; Antonis C Antoniou; Susan Peock; D Gareth Evans; Joan Paterson; M John Kennedy; Alan Donaldson; Huw Dorkins; Douglas F Easton; Wendy S Rubinstein; Mary B Daly; Claudine Isaacs; Heli Nevanlinna; Fergus J Couch; Irene L Andrulis; Eitan Freidman; Yael Laitman; Patricia A Ganz; Gail E Tomlinson; Susan L Neuhausen; Steven A Narod; Catherine M Phelan; Roger Greenberg; Katherine L Nathanson
Journal:  Cancer Res       Date:  2011-07-28       Impact factor: 12.701

4.  Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database.

Authors:  Ali A Alshatwi; Tarique N Hasan; Naveed A Syed; Gowhat Shafi; B Leena Grace
Journal:  PLoS One       Date:  2012-10-09       Impact factor: 3.240

5.  Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.

Authors:  Katarzyna Klonowska; Magdalena Ratajska; Karol Czubak; Alina Kuzniacka; Izabela Brozek; Magdalena Koczkowska; Marcin Sniadecki; Jaroslaw Debniak; Dariusz Wydra; Magdalena Balut; Maciej Stukan; Agnieszka Zmienko; Beata Nowakowska; Irmgard Irminger-Finger; Janusz Limon; Piotr Kozlowski
Journal:  Sci Rep       Date:  2015-05-21       Impact factor: 4.379

Review 6.  Dualistic Role of BARD1 in Cancer.

Authors:  Flora Cimmino; Daniela Formicola; Mario Capasso
Journal:  Genes (Basel)       Date:  2017-12-08       Impact factor: 4.096

Review 7.  The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers.

Authors:  Andrea K Watters; Emily S Seltzer; Danny MacKenzie; Melody Young; Jonathan Muratori; Rama Hussein; Andrej M Sodoma; Julie To; Manrose Singh; Dong Zhang
Journal:  Genes (Basel)       Date:  2020-07-21       Impact factor: 4.096

Review 8.  Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.

Authors:  Wejdan M Alenezi; Caitlin T Fierheller; Neil Recio; Patricia N Tonin
Journal:  Genes (Basel)       Date:  2020-07-27       Impact factor: 4.096
  8 in total

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