Tumour Versus Germline BRCA Testing in Ovarian Cancer : a single-site institution experience in the United Kingdom
| Autor: | Olubukola Onifade, Siavash Rahimi, F Gardner, Shyamika Mirisse Acharige, Chit Cheng Yeoh, Iolia Akaev, Eleanor Jones, David Castells-Rufas |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty endocrine system diseases Serous carcinoma Somatic cell Clinical Biochemistry Brca testing carcinoma Article Germline PARP 03 medical and health sciences 0302 clinical medicine Germline mutation Single site Internal medicine medicine Carcinoma ovarian service Somatic skin and connective tissue diseases lcsh:R5-920 Service somatic business.industry tumour medicine.disease BRCA1 BRCA2 030104 developmental biology Ovarian 030220 oncology & carcinogenesis NGS Tumour Ovarian cancer business lcsh:Medicine (General) |
| Zdroj: | Diagnostics, Vol 11, Iss 547, p 547 (2021) Diagnostics Volume 11 Issue 3 Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona |
| Popis: | The aim of this audit was to evaluate the usefulness and serviceability of testing for pathogenic mutations in BRCA1 or BRCA2 (BRCA1/2) 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 BRCA (both somatic and germline) tumour BRCA1/2 (tBRCA1/2) pathogenic mutations were found in 20 (16%) patients with distribution between BRCA1 and BRCA2 being 40% and 60%, respectively 13 (10.4%) patients with pathogenic variants had germline mutations and tBRCA1/2 with variant of unknown significance (VUS), in the absence of pathogenic BRCA1 or BRCA2 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 BRCA 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. |
| Databáze: | OpenAIRE |
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