PURPOSE: The BRCA1-associated RING domain (BARD1) gene has been identified as a high-penetrance gene for breast cancer, whose germline and somatic mutations were reported in both non-BRCA1/2 hereditary site-specific and sporadic breast cancer cases. Some association studies suggested that the BRAD1 Cys557Ser variant might be associated with increased risk of breast cancer, but the results remain conflicting rather than conclusive. In order to derive a more precise estimation of the relationship, this meta-analysis was performed. METHODS: Eligible studies were identified by searching several databases for relevant reports published before March 2011. In total, 14 studies (11,870 cases and 7,687 controls) were included in the present meta-analysis. The pooled odds ratio (OR) with 95% confidence interval (CI) for breast cancer risk associated with Cys557Ser carrier was estimated. RESULTS: The carrier frequency of the Cys557Ser mutation was 3.85% (457/11,870) in patients with breast cancer and 3.29% (253/7,687) in healthy controls. When all studies were pooled into the meta-analysis, there was no evidence for significant association between Cys557Ser mutation and breast cancer risk (OR 1.14, 95% CI 0.94-1.34). In the subgroup analyses by design of experiment and family history with BRCA1/2 status (unselected cases, family history with non-BRCA1/2 cases, and family history with BRCA1/2-positive cases), no significant associations were found in any subgroup of population. CONCLUSIONS: This meta-analysis strongly suggests that BARD1 Cys557Ser mutation is not associated with increased breast cancer risk.
PURPOSE: The BRCA1-associated RING domain (BARD1) gene has been identified as a high-penetrance gene for breast cancer, whose germline and somatic mutations were reported in both non-BRCA1/2 hereditary site-specific and sporadic breast cancer cases. Some association studies suggested that the BRAD1 Cys557Ser variant might be associated with increased risk of breast cancer, but the results remain conflicting rather than conclusive. In order to derive a more precise estimation of the relationship, this meta-analysis was performed. METHODS: Eligible studies were identified by searching several databases for relevant reports published before March 2011. In total, 14 studies (11,870 cases and 7,687 controls) were included in the present meta-analysis. The pooled odds ratio (OR) with 95% confidence interval (CI) for breast cancer risk associated with Cys557Ser carrier was estimated. RESULTS: The carrier frequency of the Cys557Ser mutation was 3.85% (457/11,870) in patients with breast cancer and 3.29% (253/7,687) in healthy controls. When all studies were pooled into the meta-analysis, there was no evidence for significant association between Cys557Ser mutation and breast cancer risk (OR 1.14, 95% CI 0.94-1.34). In the subgroup analyses by design of experiment and family history with BRCA1/2 status (unselected cases, family history with non-BRCA1/2 cases, and family history with BRCA1/2-positive cases), no significant associations were found in any subgroup of population. CONCLUSIONS: This meta-analysis strongly suggests that BARD1 Cys557Ser mutation is not associated with increased breast cancer risk.
Authors: R Dechend; F Hirano; K Lehmann; V Heissmeyer; S Ansieau; F G Wulczyn; C Scheidereit; A Leutz Journal: Oncogene Date: 1999-06-03 Impact factor: 9.867
Authors: Simon N Stacey; Patrick Sulem; Oskar T Johannsson; Agnar Helgason; Julius Gudmundsson; Jelena P Kostic; Kristleifur Kristjansson; Thora Jonsdottir; Helgi Sigurdsson; Jon Hrafnkelsson; Jakob Johannsson; Thorarinn Sveinsson; Gardar Myrdal; Hlynur Niels Grimsson; Jon T Bergthorsson; Laufey T Amundadottir; Jeffrey R Gulcher; Unnur Thorsteinsdottir; Augustine Kong; Kari Stefansson Journal: PLoS Med Date: 2006-07 Impact factor: 11.069
Authors: Cindy Lee; Tapahsama Banerjee; Jessica Gillespie; Amanda Ceravolo; Matthew R Parvinsmith; Lea M Starita; Stanley Fields; Amanda E Toland; Jeffrey D Parvin Journal: Hum Mutat Date: 2015-09-22 Impact factor: 4.878