BRCA Tumor Analysis as Molecular Screening for Germline Testing

  1. Domínguez, Mercedes Durán 1
  2. Morales, Alejandro González 1
  3. Fernández-Aránguiz, Blanca Ascensión Hernando 1
  4. Aras, Enrique Lastra 1
  5. González, Gonzalo García 3
  6. Herrero, Guillermo Crespo 1
  7. Gallego, Iria Gallego 3
  8. Morán, Laura Ortega 2
  9. Infante Sanz, Mª del Mar 4
  10. López, Patricia Saiz 1
  1. 1 Complejo Asistencial Universitario de Burgos
    info

    Complejo Asistencial Universitario de Burgos

    Burgos, España

    ROR https://ror.org/01j5v0d02

  2. 2 Hospital General Universitario Gregorio Marañón
    info

    Hospital General Universitario Gregorio Marañón

    Madrid, España

    ROR https://ror.org/0111es613

  3. 3 Hospital de Móstoles
    info

    Hospital de Móstoles

    Móstoles, España

    ROR https://ror.org/04tqrbk66

  4. 4 Universidad de Valladolid
    info

    Universidad de Valladolid

    Valladolid, España

    ROR https://ror.org/01fvbaw18

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Revista:
Annals of Clinical Oncology

ISSN: 2674-3248,  2674-3248

Año de publicación: 2020

Páginas: 1-7

Tipo: Artículo

DOI: 10.31487/J.ACO.2020.02.01 GOOGLE SCHOLAR lock_openAcceso abierto editor

Otras publicaciones en: Annals of Clinical Oncology

Resumen

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.