SEOM clinical guidelines in hereditary breast and ovarian cancer (2019)

• S. González-Santiago ^[7] ; T. Ramón y Cajal ^[1] ; E. Aguirre ^[8] ; J. E. Alés-Martínez ^[9] ; R. Andrés ^[2] ; J. Balmaña ^[10] ; B. Graña ^[3] ; A. Herrero ^[4] ; G. Llort ^[5] ; A. González-del-Alba ^[6]
  1. [1] Hospital de la Santa Creu i Sant Pau

     Hospital de la Santa Creu i Sant Pau

     Barcelona, España

     
  2. [2] Hospital Clínico Universitario Lozano Blesa

     Hospital Clínico Universitario Lozano Blesa

     Zaragoza, España

     
  3. [3] Complexo Hospitalario Universitario da Coruña

     Complexo Hospitalario Universitario da Coruña

     A Coruña, España

     
  4. [4] Hospital Miguel Servet

     Hospital Miguel Servet

     Zaragoza, España

     
  5. [5] Corporació Sanitària Parc Taulí

     Corporació Sanitària Parc Taulí

     Barcelona, España

     
  6. [6] Hospital Universitario Puerta de Hierro

     Hospital Universitario Puerta de Hierro

     Madrid, España

     
  7. [7] Hospital Universitario San Pedro de Alcántara
  8. [8] Hospital Quirónsalud Zaragoza
  9. [9] Hospital Nuestra Señora de Sonsoles
  10. [10] Hospital Universitario Vall D’Hebron

  Mostrar afiliaciones +
• Localización: Clinical & translational oncology, ISSN 1699-048X, Vol. 22, Nº. 2 (February), 2020 (Ejemplar dedicado a: Clinical Guides in Oncology), págs. 193-200
• Idioma: inglés
• Texto completo no disponible (Saber más ...)
• Resumen

  • Mutations in BRCA1 and BRCA2 high penetrance genes account for most hereditary breast and ovarian cancer, although other new high-moderate penetrance genes included in multigene panels have increased the genetic diagnosis of hereditary breast and ovarian cancer families by 50%. Multigene cancer panels provide new challenges related to increased frequency of variants of uncertain significance, new gene-specific cancer risk assessments, and clinical recommendations for carriers of mutations of new genes. Although clinical criteria for genetic testing continue to be largely based on personal and family history with around a 10% detection rate, broader criteria are being applied with a lower threshold for detecting mutations when there are therapeutic implications for patients with breast or ovarian cancer. In this regard, new models of genetic counselling and testing are being implemented following the registration of PARP inhibitors for individuals who display BRCA mutations. Massive sequencing techniques in tumor tissue is also driving a paradigm shift in genetic testing and potential identification of germline mutations. In this paper, we review the current clinical criteria for genetic testing, as well as surveillance recommendations in healthy carriers, risk reduction surgical options, and new treatment strategies in breast cancer gene-mutated carriers.