Tumour Versus Germline BRCA Testing in Ovarian Cancer: A Single-Site Institution Experience in the United Kingdom

• Published in: Diagnostics (Basel) 2021-03, Vol.11 (3), p.547
• Main Authors: Akaev, Iolia, Rahimi, Siavash, Onifade, Olubukola, Gardner, Francis John Edward, Castells-Rufas, David, Jones, Eleanor, Acharige, Shyamika, Yeoh, Chit Cheng
• Format: Article
• Language: English
• Subjects: BRCA1; BRCA2; carcinoma; ovarian; somatic; tumour
• ISSN: 2075-4418; 2075-4418
• DOI: 10.3390/diagnostics11030547

The aim of this audit was to evaluate the usefulness and serviceability of testing for pathogenic mutations in or ( ) genes in ovarian cancer (OC) patients. One hundred and thirty-five patients with more common histological sub-types of OC were retrospectively identified between 2011 and 2019. The fail rate of the molecular analysis was 7.4% (10/135). One hundred and twenty-five records were evaluated: 99 (79.2%) patients had wild-type (both somatic and germline); tumour (t ) pathogenic mutations were found in 20 (16%) patients with distribution between and being 40% and 60%, respectively; 13 (10.4%) patients with pathogenic variants had germline mutations; and t with variant of unknown significance (VUS), in the absence of pathogenic or variants, was detected in 6 (4.8%) patients. Our data show that expanding the molecular service to the routine first-tumour testing for patients with OC will potentially increase the detection rate of mutations, thereby providing early benefits of PARP inhibitors therapy. The tumour testing service should continue to be offered to newly diagnosed patients with high-grade epithelial cancers, including high-grade serous carcinoma, but also with carcinosarcomas and poorly-differentiated metastatic adenocarcinomas of unknown origin.