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

Conclusions We predict the likelihood of a tumour BRCA1/2 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.

http://jcp.bmj.com/cgi/content/short/76/10/684?rss=1

Source: Journal of Clinical Pathology - September 19, 2023 Category: Pathology Authors: Morgan, R. D., Burghel, G. J., Flaum, N., Bulman, M., Smith, P., Clamp, A. R., Hasan, J., Mitchell, C., Salih, Z., Woodward, E. R., Lalloo, F., Shaw, J., Desai, S., Crosbie, E. J., Edmondson, R. J., Schlecht, H., Wallace, A. J., Jayson, G. C., Evans, D. G Tags: Original research Source Type: research