Tumour Versus Germline BRCA Testing in Ovarian Cancer : a single-site institution experience in the United Kingdom
Akaev, Iolia (University of Portsmouth)
Rahimi, Siavash (University of Portsmouth)
Onifade, Olubukola (Portsmouth Hospitals University NHS Trust)
Gardner, Francis John Edward (Portsmouth Hospitals University NHS Trust)
Castells-Rufas, David (Universitat Autònoma de Barcelona. Departament de Microelectrònica i Sistemes Electrònics)
Jones, Eleanor (Portsmouth Hospitals University NHS Trust)
Acharige, Shyamika (Portsmouth Hospitals University NHS Trust)
Chit Cheng, Yeoh (Portsmouth Hospitals University NHS Trust)

Date:	2021
Abstract:	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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	BRCA1 ; BRCA2 ; Tumour ; Somatic ; Carcinoma ; Ovarian ; Service ; NGS ; PARP
Published in:	Diagnostics, Vol. 11, Issue 3 (March 2021) , art. 547, ISSN 2075-4418

DOI: 10.3390/diagnostics11030547
PMID: 33808557

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