Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.

ABSTRACT: The discovery of high-risk breast cancer susceptibility genes, such as Breast cancer associated gene 1 (BRCA1) and Breast cancer associated gene 2 (BRCA2) has led to accurate identification of individuals for risk management and targeted therapy. The rapid decline in sequencing costs has tremendously increased the number of individuals who are undergoing genetic testing world-wide. However, given the significant differences in population-specific variants, interpreting the results of these tests can be challenging especially for novel genetic variants in understudied populations. Here we report the characterization of novel variants in the Malaysian and Singaporean population that consist of different ethnic groups (Malays, Chinese, Indian, and other indigenous groups). We have evaluated t

SUBMITTER: Sullivan T 

PROVIDER: S-EPMC7919386 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature