SEOM clinical guidelines in hereditary breast and ovarian cancer (2019)
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Identificadores
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Autor corporativo
SEOM Hereditary Cancer Working GroupFecha de publicación
2020Título de revista
Clinical & Translational Oncology
Tipo de contenido
Journal Article
DeCS
neoplasias ováricas | ensayos clínicos como asunto | neoplasias de la mama | proteínas de neoplasias | oncología médica | humanos | guías de práctica clínica como asuntoMeSH
Clinical Trials as Topic | Breast Neoplasms | Humans | Neoplasm Proteins | Medical Oncology | Practice Guidelines as Topic | Ovarian NeoplasmsResumen
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.
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