BRCA Tumor Analysis as Molecular Screening for Germline Testing
Alejandro González Morales Blanca Ascensión Hernando Fernández-Aránguiz Cooperative group: Burgos-Valladolid-Madrid Enrique Lastra Aras Gonzalo García González Guillermo Crespo Herrero Iria Gallego Gallego Laura Ortega Morán Mercedes Durán Domínguez Mª del Mar Infante Sanz Patricia Saiz López
Corresponding AuthorMercedes Durán Domínguez
Institute of Genetics and Molecular Biology, University of Valladolid, Spain
A B S T R A C T
Background: In patients with advanced high-grade serous ovarian cancer (HGSOC) and prostate adenocarcinoma, the identification of somatic/germline BRCA1/2 mutations allows new therapeutic opportunities. To estimate the prevalence of somatic and germline BRCA1/2 mutations in non-mucinous high grade ovarian/fallopian tube/peritoneal extraovarian cancer (NMHGOC) and prostate adenocarcinoma. Methods: Prevalence was established by analyzing patients with NMHGOC or prostate adenocarcinoma, with a BRCA1/2 study in the tumor between 2017 and 2018. Whether a germline study had been carried out was subsequently reviewed. Results: 10 patients out of 43 (23.3%) with NMHGOC had a BRCA1/2 mutation in the tumor. 9 patients (20.9%) presented a BRCA1/2 mutation in the germline setting (2 without tumor result due to limited tissue sample). 3 patients (6.9%) had only somatic mutations. 30% of the mutations in the tumor were, therefore, somatic mutations. Of the 9 patients with prostate adenocarcinoma, 2 (22.2%) had a BRCA2 mutation in the tumor. While 1 (11.1%) had the mutation in the germline setting, 1 patient (11.1%) had only somatic mutations. Conclusion: In our series, the prevalence of somatic and germline BRCA1/2 mutations in NMHGOC is similar to that reported in the literature. Whereas somatic mutations are only present at the neoplastic tissue, the rate of mutations in the tumor is higher than in the germline setting. A more effective diagnostic and predictive strategy could be achieved with tumor BRCA analysis as the first attempt. Initial results in prostate adenocarcinoma point to the same conclusion for this tumor.
Article TypeResearch Article
Publication historyReceived: Tue 21, Apr 2020
Accepted: Thu 14, May 2020
Published: Thu 28, May 2020
Copyright© 2023 Mercedes Durán Domínguez. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Hosting by Science Repository.