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

• DOI: 10.1007/s12094-019-02262-0
• Publication Date: 2019-12-30T07:02:19Z
• Authors: S. González-Santiago; T. Ramón y Cajal; E. Aguirre; J. E. Alés-Martínez; R. Andrés; J. Balmaña; B. Graña; A. Herrero; G. Llort; A. González-del-Alba
• Keywords: Hereditary breast; :Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES]; :Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES]; Breast Neoplasms; Ovaris - Càncer - Aspectes genètics; :neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas [ENFERMEDADES]; Medical Oncology; 03 medical and health sciences; 0302 clinical medicine; Ovarian cancer; Humans; Genetic Predisposition to Disease; Societies, Medical; :fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS]; Ovarian Neoplasms; :neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES]; Clinical Trials as Topic; SEOM guidelines; :Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms [DISEASES]; Neoplasm Proteins; Mutation; Practice Guidelines as Topic; Mama - Càncer - Aspectes genètics; Female

AbstractMutations inBRCA1andBRCA2high 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.