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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: लेख
भाषा:अंग्रेज़ी
प्रकाशित: Elsevier 2025-09-01
श्रृंखला:Translational Oncology
विषय:
BRCA
Germline screening
Pathogenic
VUS
Olaparib
Functional analysis.
ऑनलाइन पहुंच:http://www.sciencedirect.com/science/article/pii/S1936523325002025
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http://www.sciencedirect.com/science/article/pii/S1936523325002025

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