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BRCA1 c.5470_5477del, a founder mutation in Chinese Han breast cancer patients.

International journal of cancer - 1 Jun 2020

Meng Hua, Yao Lu, Yuan Hua, Xu Ye, Ouyang Tao, Li Jinfeng, Wang Tianfeng, Fan Zhaoqing, Fan Tie, Lin Benyao, Xie Yuntao

Abstract excerpt

The spectrum and frequency of BRCA1/2 pathogenic variants may be ethnicity-specific. Whether high-frequency founder mutations are present in Chinese women remains largely unknown. In the current study, germline pathogenic variants in the BRCA1/2 genes were determined in 9,505 unselected Chinese Han breast cancer (BC) patients by next-generation and/ or Sanger sequencing. Four hundred and seventy-one (5.0%) BC...

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PMID: 31957001
DOI: 10.1002/ijc.32877

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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