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The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit
BJOG: An International Journal of Obstetrics & Gynaecology ( IF 5.8 ) Pub Date : 2021-10-17 , DOI: 10.1111/1471-0528.16975
B Frugtniet 1 , S Morgan 1 , A Murray 2 , S Palmer-Smith 1 , R White 1 , R Jones 3 , L Hanna 4 , C Fuller 5 , E Hudson 4 , A Mullard 5 , A E Quinton 4
Affiliation  

To determine the frequency of germline and somatic pathogenic BRCA1 and BRCA2 variants in patients with high-grade serous ovarian cancer tested by next-generation sequencing (NGS), with the aim of defining the best strategy to be implemented in future routine testing.

中文翻译:

通过平行检测高级别浆液性卵巢癌患者检测生殖系和体细胞 BRCA1/2 基因变异:国家回顾性审计

确定通过下一代测序 (NGS) 检测的高级别浆液性卵巢癌患者中胚系和体细胞致病性BRCA1BRCA2变异的频率,目的是确定在未来常规检测中实施的最佳策略。
更新日期:2021-10-17
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