Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening

Germline loss-of-function mutations in BRCA1 and BRCA2 (BRCA) genes are well-established as causative factors for hereditary breast and ovarian cancer (HBOC), conferring an approximately tenfold increased lifetime risk. The identification of BRCA mutations is essential for risk assessment and manage...

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Main Authors: Qianqian Shi, Jinshuang Gao, Haiyang Yu, Yaodong Niu, Erfeng Yuan, Yaqing Guo, Liying Song, Yang Fang, Yu Wang, Enwu Yuan, Yanwu Zhang, Xin Zhao, Linlin Zhang
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Translational Oncology
Subjects:
BRCA
Germline screening
Pathogenic
VUS
Olaparib
Functional analysis.
Online Access:http://www.sciencedirect.com/science/article/pii/S1936523325002025
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