TY - JOUR
AR - ACO-2020-2-101
TI - BRCA Tumor Analysis as Molecular Screening for Germline Testing
AU - Alejandro González , Morales
AU - Blanca Ascensión Hernando , Fernández-Aránguiz
AU - Cooperative group: , Burgos-Valladolid-Madrid
AU - Enrique Lastra , Aras
AU - Gonzalo García , González
AU - Guillermo Crespo , Herrero
AU - Iria Gallego , Gallego
AU - Laura Ortega , Morán
AU - Mercedes Durán, Domínguez
AU - Mª del Mar , Infante Sanz
AU - Patricia Saiz , López
JO - Annals of Clinical Oncology
PY - 2020
DA - Thu 28, May 2020
SN - 2674-3248
DO - http://dx.doi.org/10.31487/j.ACO.2020.02.01
UR - https://www.sciencerepository.org/brca-tumor-analysis-as-molecular-screening-for-germline-testing_ACO-2020-2-101 
KW - BRCA, mutation, somatic, germline, tumor
AB - 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.