Predicting the likelihood of a BRCA1/2 pathogenic variant being somatic by testing only tumour DNA in non-mucinous high-grade epithelial ovarian cancer.

Robert D Morgan,George J Burghel,Nicola Flaum,Michael Bulman,Philip Smith,Andrew R Clamp,Jurjees Hasan,Claire Mitchell,Zena Salih,Emma R Woodward,Fiona Lalloo,Joseph Shaw,Sudha Desai,Emma J Crosbie,Richard J Edmondson,Helene Schlecht,Andrew J Wallace,Gordon C Jayson,D Gareth R Evans

Journal of clinical pathology（2022）

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摘要

We predict the likelihood of a tumour PV being somatic is 99.8% in non-familial cases of NMEOC diagnosed aged ≥75, where the VAF is ≤30% and there is no regional germline commonality.

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Biomarkers, Tumor,GENETICS,Ovarian Neoplasms

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