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Article

A Novel Germline Mutation of BRCA1 and Integrated Analysis With Somatic Mutation in a Chinese Multi-Cancer Family.

The oncologist - 3 Jun 2024

Yang Xiling, Shang Li, Yang Liren, Sun Landi, Tuo Xiaoqian, Ma Sijia, Zhao Le, Li Xu, Yang Wenfang

Abstract excerpt

The presence of mutations in the BRCA1 gene (MIM: 113705) is widely recognized as a significant genetic predisposition for ovarian cancer. This study investigated the genomic mutations in a Chinese family with a history of ovarian, breast, and rectal adenocarcinoma. A novel germline mutation (Phe1695Val) in BRCA1 was identified through whole-exome sequencing. Subsequently, we performed whole-genome sequencing to...

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Source

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Identifiers

PMID: 38159086
DOI: 10.1093/oncolo/oyad294
PMCID: PMC11144973

Genes

BRCA1
PIK3CA
TP53

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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