Prevalence of BRCA1 and BRCA2 pathogenic variants in 8627 unselected patients with breast cancer: stratification of age at diagnosis, family history and molecular subtype

• Published in: Breast cancer research and treatment Vol. 195; no. 3; pp. 431 - 439
• Main Authors: Zang, Fan, Ding, Xinyun, Chen, Jiuan, Hu, Li, Sun, Jie, Zhang, Juan, Xu, Ye, Yao, Lu, Xie, Yuntao
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.10.2022; Springer; Springer Nature B.V
• Subjects: Age; BRCA1 protein; BRCA2 protein; Breast cancer; Cancer; Cancer patients; Cancer research; Care and treatment; Diagnosis; DNA sequencing; Epidemiology; ErbB-2 protein; Family medical history; Genetic aspects; Medicine; Medicine & Public Health; Next-generation sequencing; Nucleotide sequencing; Oncology; Ovarian cancer; Pancreatic cancer; Patients; Phenotypes; Prostate cancer; Chinese population; BRCA1/2 mutation; Breast cancer

Purpose Comprehensively analyzing the prevalence of BRCA1/2 germline pathogenic variants (PVs) in a large cohort of unselected Chinese patients with breast cancer has great clinical importance. Methods Germline pathogenic variants in full-length BRCA1/2 genes were determined through next-generation...