Ontology highlight
ABSTRACT:
SUBMITTER: Inagaki-Kawata Y
PROVIDER: S-EPMC7567851 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Communications biology 20201016 1
The genetic and clinical characteristics of breast tumors with germline variants, including their association with biallelic inactivation through loss-of-heterozygosity (LOH) and second somatic mutations, remain elusive. We analyzed germline variants of 11 breast cancer susceptibility genes for 1,995 Japanese breast cancer patients, and identified 101 (5.1%) pathogenic variants, including 62 BRCA2 and 15 BRCA1 mutations. Genetic analysis of 64 BRCA1/2-mutated tumors including TCGA dataset tumors ...[more]