Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.
Kah Nyin LaiWeang Kee HoIn Nee KangPeter Choon Eng KangSze Yee PhuahShivaani MariapunCheng-Har YipNur Aishah Mohd TaibSoo-Hwang TeoPublished in: BMC cancer (2017)
Our study shows that BRCA2 p.Ile3412Val and p.Ala1996Thr are likely benign and highlights the need for population-specific studies to determine the likely functional significance of population-specific variants. Our study also suggests that BRCA1 p.Arg762Ser may be associated with increased risk of breast cancer but other methods or larger studies are required to determine a more precise estimate of breast cancer risk.