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SEOM clinical guidelines in hereditary breast and ovarian cancer (2019)
- Source :
- Scientia
- Publication Year :
- 2019
-
Abstract
- Mama hereditaria; Cáncer de ovarios; Directrices SEOM Mama hereditària; Càncer d'ovaris; Directrius SEOM Hereditary breast; Ovarian cancer; SEOM guidelines 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.
- Subjects :
- 0301 basic medicine
Cancer Research
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
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
Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms [DISEASES]
General Medicine
Neoplasm Proteins
030104 developmental biology
Oncology
030220 oncology & carcinogenesis
Mutation
Practice Guidelines as Topic
Mama - Càncer - Aspectes genètics
Female
Subjects
Details
- ISSN :
- 16993055
- Volume :
- 22
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Clinicaltranslational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
- Accession number :
- edsair.doi.dedup.....281a3c39a45995b36c91b7d4f1c38f48