SEOM clinical guidelines in hereditary breast and ovarian cancer (2019)
Por:
Gonzalez-Santiago, S, Cajal, TRY, Aguirre, E, Ales-Martinez, JE, Andres, R, Balmana, J, Grana, B, Herrero, A, Llort, G, Gonzalez-del-Alba, A
Publicada:
1 feb 2020
Ahead of Print:
1 dic 2019
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.
Filiaciones:
Gonzalez-Santiago, S:
Hosp Univ San Pedro de Alcantara, Dept Med Oncol, Ave Pablo Naranjo S-N, Caceres 10003, Spain
Cajal, TRY:
Hosp Santa Creu & Sant Pau, Dept Med Oncol, Barcelona, Spain
Aguirre, E:
Hosp Quironsalud, Dept Med Oncol, Zaragoza, Spain
Ales-Martinez, JE:
Hosp Nuestra Senora de Sonsoles, Dept Med Oncol, Avila, Avila, Spain
Andres, R:
Hosp Clin Univ Lozano Blesa, Dept Med Oncol, Zaragoza, Spain
Balmana, J:
Hosp Univ Vall dHebron, Dept Med Oncol, Barcelona, Spain
Grana, B:
Complexo Hosp Univ CHUAC, Dept Med Oncol, La Coruna, A Coruna, Spain
Herrero, A:
Hosp Univ Miguel Servet, Dept Med Oncol, Zaragoza, Spain
Llort, G:
Corp Sanitaria Parc Tauli, Dept Med Oncol, Barcelona, Spain
Gonzalez-del-Alba, A:
Hosp Univ Puerta de Hierro Majadahonda, Dept Med Oncol, Madrid, Spain
Hybrid Gold
|