BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls.

Gynecologic Oncology(2018)

引用 32|浏览10
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摘要
•22.4% (17.1% BRCA1, 5.3% BRCA2) OC patients and 0.4% (0.3 BRCA1, 0.1% BRCA2) controls carried deleterious variants in Chinese.•The dense cluster of mutations in BRCA1 exon10 indicated that hypermutation was a characteristic of Chinese OC patients.•The estimated odds ratio (OR) of OC associated with BRCA1 positive variants was 34.6 (95% CI, 12.5–95.7) in age < 40 group.•The OR was 42.4 (95% CI, 5.9–305.2) in age ≥ 50 group.
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关键词
Ovarian neoplasms,High-throughput nucleotide sequencing,Case-control studies,BRCA gene,Exon mutation,Chinese genetic testing
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