Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels
Journal
Oncotarget
Journal Volume
9
Journal Issue
8
Pages
7832-7843
Date Issued
2018
Author(s)
Kwong A.
Ho J.C.W.
Shin V.Y.
Kurian A.W.
Tai E.
Esserman L.J.
Weitzel J.N.
Field M.
Domchek S.M.
Lo J.
Ngan H.Y.S.
Ma E.S.K.
Chan T.L.
Ford J.M.
Abstract
BRCA1/2 mutations are significant risk factors for hereditary breast and ovarian cancer (HBOC), its mutation frequency in HBOC of Chinese ethnicity is around 9%, in which nearly half are recurrent mutations. In Hong Kong and China, genetic testing and counseling are not as common as in the West. To reduce the barrier of testing, a multiplex SNaPshot genotyping panel that targeted 25 Chinese BRCA1/2 mutation hotspots was developed, and its feasibility was evaluated in a local cohort of 441 breast and 155 ovarian cancer patients. For those who tested negative, they were then subjected to full-gene testing with next-generation sequencing (NGS). BRCA mutation prevalence in this cohort was 8.05% and the yield of the recurrent panel was 3.52%, identifying over 40% of the mutation carriers. Moreover, from 79 Chinese breast cancer cases recruited overseas, 2 recurrent mutations and one novel BRCA2 mutation were detected by the panel and NGS respectively. The developed genotyping panel showed to be an easy-to-perform and more affordable testing tool that can provide important contributions to improve the healthcare of Chinese women with cancer as well as family members that harbor high risk mutations for HBOC. ? Kwong et al.
Subjects
BRCA1/2; Breast cancer; Genetic testing; Mutation; Ovarian cancer
SDGs
Other Subjects
BRCA1 protein; BRCA2 protein; adolescent; adult; aged; Article; cancer patient; child; China; Chinese; cohort analysis; controlled study; cost effectiveness analysis; family history; feasibility study; female; gene mutation; gene rearrangement; genetic counseling; genetic screening; genotype; hereditary breast and ovarian cancer syndrome; high risk patient; Hong Kong; human; major clinical study; multiplex ligation dependent probe amplification; mutation rate; mutational analysis; next generation sequencing; nonsense mutation; oncogene; prevalence; risk factor; tumor suppressor gene
Publisher
Impact Journals LLC
Type
journal article