Breast cancer risk associated with BRCA1 and BRCA2 pathogenic variants in the Eastern Chinese population

• Published in: Cancer pathogenesis and therapy Vol. 3; no. 2; pp. 147 - 153
• Main Authors: Yu, Sanjian, Qiu, Xia, Wang, Zezhou, Xiao, Jialong, Ji, Hui, Shan, Hailin, Shao, Qing, Xia, Heng, Cao, Feng, Li, Jun, Fu, Cuixia, Chen, Liqin, Lu, Xiaofang, Su, Tingting, Yu, Qianqian, Hou, Shengqun, Wang, Honglian, Zheng, Ying, Shao, Zhimin, Liu, Yun, Hu, Zhen
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.03.2025; Elsevier
• Subjects: BRCA1/2 gene mutations; Breast cancer; Chinese population; Population-based studies; Chinese population; Breast cancer; BRCA1/2 gene mutations; Population-based studies
• ISSN: 2949-7132; 2097-2563; 2949-7132
• DOI: 10.1016/j.cpt.2024.04.002

Population-based penetrance studies of breast cancer gene 1/2 (BRCA1/2) pathogenic or likely pathogenic (P/LP) variants in the Eastern Chinese population are currently lacking; thus, we aimed to investigate the penetrance of breast cancer and other malignant tumors among BRCA1/2 P/LP variant carriers using a population-based breast cancer cohort from communities in Eastern China. Between July 2019 and March 2021, we tested 2216 breast cancer probands from Chinese communities for BRCA1/2 mutations and collected detailed information on the age, survival status, and malignancy history of first-degree relatives. The kin-cohort method was used to calculate the penetrance of breast cancer and other malignant tumors. Of the 2216 breast cancer probands, 109 (4.90%) carried BRCA1/2 P/LP variants, 49 in the BRCA1 gene and 60 in the BRCA2 gene. The penetrance of female breast cancer by 85 years of age was 22.50% and 18.20% in BRCA1 and BRCA2 P/LP variant carriers, respectively. The penetrance of ovarian cancer by 85 years of age was 26.00% in BRCA1 P/LP variant carriers. The penetrance of other malignancies did not reach statistical significance owing to the small number of events. Our findings showed that breast cancer penetrance among BRCA1 and BRCA2 P/LP variant carriers was 22.50% and 18.20%, respectively, which suggests that prophylactic mastectomy may not be necessary for such Chinese individuals. ClinicalTrials.gov; https://clinicaltrials.gov/ct2/show/NCT04265937. [Display omitted] •The study investigated breast cancer gene 1/2 (BRCA1/2) mutation penetrance in the Eastern Chinese population.•Of the 2216 breast cancer probands, 109 (4.90%) carried BRCA1/2 mutations.•Penetrance of breast cancer was 22.50% and 18.20% in BRCA1 and BRCA2 carriers, respectively.•The results suggest prophylactic mastectomy may not be necessary for BRCA1/2 carriers.•The findings provide new insights for breast cancer prevention in Chinese patients who are BRCA1/2 mutation carriers.