Abstract 241P
Background
Breast cancer, the most common malignancy in females, has an estimated 5-10% hereditary predisposition. The field of germline genetic testing for breast cancer risk has evolved substantially in the last decade. However, there is still lack of germline genetic profiles for breast cancer in the Chinese population.
Methods
The study included 1235 Chinese patients with breast cancer. Germline DNA samples were sequenced using a next-generation sequencing (NGS) multi-gene panel. The primary outcome was identification of a pathogenic germline mutation.
Results
Of 1235 subjects who underwent clinical germline sequencing, 100 (8.1%) had pathogenic germline mutations and 419 (33.9%) had variants of uncertain significance. 60 (4.9%) subjects who had pathogenic germline mutations were less than 50 years old. BRCA1 mutations were identified in 44 (3.6%) subjects and 34 (2.8%) had BRCA2 mutations; 19 (1.5%) subjects had germline mutations related to homologous recombination repair (HRR) (4 with mutations in BRAD1, 4 with mutations in CHEK2, 4 with mutations in PALB2, 2 had mutations in ATM, 2 had mutations in BLM, 2 had mutations in BTIP1, 1 had a mutation in FANCA); 2 (0.2%) had mutations related to lynch syndrome (both with mutation in MSH6); 4 had other germline mutations (CDKN2A, FLCN, SDHA, SDHC).
Conclusions
In Chinese breast cancer patients, nearly 1 in 10 individuals had germline mutations, mainly in BRCA1/2 and HRR related genes.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
Zhujiang hospital.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.