Breast (Edinburgh, Scotland) · 2013
Practical aspects of genetic counseling in breast cancer: lights and shadows.
СтатьяОбзорНазвание и аннотация: Перевод в очереди
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Christinat Alexandre, Pagani Olivia
Аннотация
In unselected populations, less than 10% of breast cancers are associated with germline mutations in predisposing genes. Breast cancer type 1 and 2 (BRCA1 and BRCA2) susceptibility genes are the most common involved genes and confer a 10-30 times higher risk of developing the disease compared to the general population. A personal or family history suggestive of inherited breast cancer syndrome may be further evaluated to assess the risk of genetic predisposition and the presence of a genetic mutation. Breast cancer genetic counseling should include a careful risk assessment with associated psychosocial evaluation and support, possible molecular testing, personalized discussion of results. Knowledge of BRCA status can influence individualized cancer risk-reduction strategies. i.e. active surveillance, prophylactic surgery and/or pharmacoprevention.
Предметные рубрики MeSH
AMP-Activated Protein Kinase KinasesAntigens, CDBreast NeoplasmsBreast Neoplasms, MaleCadherinsFemaleGenes, BRCA1Genes, BRCA2Genes, p53Genetic CounselingGenetic Predisposition to DiseaseGenetic TestingHamartoma Syndrome, MultipleHereditary Breast and Ovarian Cancer SyndromeHumansLi-Fraumeni SyndromeMaleMastectomyMutationNeoplastic Syndromes, HereditaryPTEN PhosphohydrolasePeutz-Jeghers SyndromeProtein Serine-Threonine Kinases