The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case–control and family analysis

Chenevix-Trench, Georgia and Spurdle, Amanda B. (2009) The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case–control and family analysis. Breast Cancer Research and Treatment, 115 1: 145-150. doi:10.1007/s10549-008-0045-y


Author Chenevix-Trench, Georgia
Spurdle, Amanda B.
Title The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case–control and family analysis
Formatted title
The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case–control and family analysis
Journal name Breast Cancer Research and Treatment   Check publisher's open access policy
ISSN 0167-6806
Publication date 2009-05-01
Year available 2008
Sub-type Article (original research)
DOI 10.1007/s10549-008-0045-y
Volume 115
Issue 1
Start page 145
End page 150
Total pages 6
Editor Marc E Lippman
Place of publication United States
Publisher Springer New York LLC
Collection year 2010
Language eng
Subject C1
9201 Clinical Health (Organs, Diseases and Abnormal Conditions)
1103 Clinical Sciences
Abstract Abstract BARD1 was first identified as a BRCA1-interacting protein with tumour-suppressor functions. Some association studies suggested that the BARD1 Cys557Ser variant might be associated with increased risk of breast cancer, but the evidence remains uncertain. We found that the BARD1 Cys557Ser variant was carried by 50 of 1,136 cases (4.4%) and 30 of 623 controls (5.0%) from the population-based Australian Breast Cancer Family Study, 14 of 324 (4.3%) cases from the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), and 30 of 760 controls (4.0%) from the Australian Ovarian Cancer Study. Case–control comparisons showed no evidence that the variant frequency differed by case–control status (P ≥ 0.3). Segregation analysis of 14 kConFab variant-carrying families containing 157 genotyped individuals provided no evidence of segregation with disease. We conclude that the BARD1 Cys557Ser variant is not associated with breast cancer risk. Sharon E. Johnatty1, Jonathan Beesley1, Xiaoqing Chen1, John L. Hopper2, Melissa C. Southey3, Graham G. Giles4, David E. Goldgar5, Georgia Chenevix-Trench1 , Amanda B. Spurdle1, The Australian Ovarian Cancer Study Group1, 6 and The Kathleen Cuningham Consortium for Research in Familial Breast Cancer6
Formatted abstract
Abstract BARD1 was first identified as a BRCA1-interacting protein with tumour-suppressor functions. Some association studies suggested that the BARD1 Cys557Ser variant might be associated with increased risk of breast cancer, but the evidence remains uncertain. We found that the BARD1 Cys557Ser variant was carried by 50 of 1,136 cases (4.4%) and 30 of 623 controls (5.0%) from the population-based Australian Breast Cancer Family Study, 14 of 324 (4.3%) cases from the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), and 30 of 760 controls (4.0%) from the Australian Ovarian Cancer Study. Case–control comparisons showed no evidence that the variant frequency differed by case–control status (P ≥ 0.3). Segregation analysis of 14 kConFab variant-carrying families containing 157 genotyped individuals provided no evidence of segregation with disease. We conclude that the BARD1 Cys557Ser variant is not associated with breast cancer risk. 

Sharon E. Johnatty1, Jonathan Beesley1, Xiaoqing Chen1, John L. Hopper2, Melissa C. Southey3, Graham G. Giles4, David E. Goldgar5, Georgia Chenevix-Trench1 , Amanda B. Spurdle1, The Australian Ovarian Cancer Study Group1, 6 and The Kathleen Cuningham Consortium for Research in Familial Breast Cancer6


Keyword BARD1
Cys557Ser
Polymorphisms
Breast cancer
Q-Index Code C1
Q-Index Status Provisional Code
Additional Notes complete author list entered after abstract

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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Created: Thu, 01 Apr 2010, 00:26:28 EST by Amanda Jones on behalf of Medicine - Royal Brisbane and Women's Hospital