Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.

ABSTRACT:

Background

Due to historically low uptake of genetic testing, the mutational spectrum of Asians with Hereditary Breast Cancer (HBC) is not well understood. This study sought to understand the incidence and spectrum of germline mutations in Asian patients with suspected HBC in a clinic setting.

Methods

1056 patients with suspected HBC were seen in our Cancer (CA) Genetics Clinic from 2000-2017, of which 460 underwent genetic testing.

Results

Of 460 probands tested, 93% were female, 61% Chinese, 90% had prior CA, with 19% (77/414) having ≥2 primary CA. Median age at CA-diagnosis was 43y (17-83); 70% had Breast CA (BC) and 25% Ovarian CA (OC). 34% had young-onset BC, 8% bilateral BC, and 4% BC/OC. Majority had family history of BC (53%) or OC (20%). 57% underwent multige

SUBMITTER: Ow SGW 

PROVIDER: S-EPMC6420039 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature