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 MorganGeorge J BurghelNicola FlaumMichael BulmanPhilip SmithAndrew R ClampJurjees HasanClaire MitchellZena SalihEmma R WoodwardFiona LallooJoseph ShawSudha DesaiEmma J CrosbieRichard J EdmondsonHelene SchlechtAndrew J WallaceGordon C JaysonD Gareth R Evans

Published in: Journal of clinical pathology (2022)

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.

Keyphrases

high grade
low grade
copy number
circulating tumor
cell free
single molecule
early onset
dna repair
gene expression
dna methylation
nucleic acid