Long-term tumour dormancy in a BRCA1 heterozygote

We report a BRCA1 heterozygote who developed a pelvic HGSC 15 years post-RRSO, following an occult Fallopian tube HGSC that was missed on initial pathological examination. Exome sequencing of DNA derived from normal and tumour tissues showed that the pelvic tumour is a recurrence from the original Fallopian tube tumour. BRCA1 and BRCA2 GPVs are the strongest known risk factors for HGSC, and for this reason, RRSO is offered to women who are heterozygous for BRCA1/2 GPVs as standard of care, usually between the ages of 35 and 50 years. For women who have undergone RRSO, there...

Source: Journal of Medical Genetics - December 23, 2022 Category: Genetics & Stem Cells Authors: Amuzu, S., Fu, L., Demko, N., Rivera, B., Domecq, C., de Kock, L., Hamel, N., Gilbert, L., Polak, P., Ragoussis, J., Foulkes, W. D. Tags: Cancer genetics Source Type: research