Follow-up of tissue genomics in BRCA1/2 carriers who underwent prophylactic surgeries

摘要

Purpose The genomic status of non-malignant tissues from carriers of pathogenic germline BRCA1/2 (g BRCA1/2 ) variants may reveal information towards individualized prophylaxis. We performed spatiotemporal tissue genotype comparisons in a real-life cohort of g BRCA1/2 carriers of Greek origin, who underwent multiple risk-reducing/prophylactic surgeries at various time points. Methods Fifty-three women (median age 36 years) within cancer families were observed for up to 37.5?years; 43 were cancer carriers and 10 were healthy carriers. Histology review and genotyping were performed for 187 paraffin tissues (average: 3.5 per carrier) including 46 carcinomas (40 breast) and 141 non-malignant breast and gynecological samples. Results High allelic imbalance (AI) and somatic pathogenic TP53 variants were present in cancer carriers only ( p values?