title: Practical aspects of genetic counseling in breast cancer: lights and shadows.
abstract: 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.
authors.affiliation: Institute of Oncology of Southern Switzerland, Bellinzona, Switzerland. alexandre.christinat@eoc.ch
authors.forename: Alexandre
authors.initials: A
authors.lastname: Christinat
authors.forename: Olivia
authors.initials: O
authors.lastname: Pagani
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D015703:Antigens, CD; D001943:Breast Neoplasms / Q000235:genetics* / Q000517:prevention & control / Q000523:psychology; D018567:Breast Neoplasms, Male / Q000235:genetics / Q000517:prevention & control / Q000523:psychology; D015820:Cadherins / Q000235:genetics; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D016158:Genes, p53; D005817:Genetic Counseling / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000523:psychology; D005820:Genetic Testing / Q000379:methods*; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics / Q000523:psychology; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000235:genetics* / Q000523:psychology; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics / Q000523:psychology; D008297:Male; D008408:Mastectomy; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000523:psychology; D051059:PTEN Phosphohydrolase / Q000235:genetics; D010580:Peutz-Jeghers Syndrome / Q000235:genetics / Q000523:psychology; D017346:Protein Serine-Threonine Kinases / Q000235:genetics
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases; D051059:PTEN Phosphohydrolase