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,
BRCA Tumor Analysis as Molecular Screening for Germline Testing
Annals of Clinical Oncology
2020
2674-3248
http://dx.doi.org/10.31487/j.ACO.2020.02.01
https://www.sciencerepository.org/brca-tumor-analysis-as-molecular-screening-for-germline-testing_ACO-2020-2-101 
Abstract: 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.Keywords: BRCA, mutation, somatic, germline, tumor