Abstract clinici sulla HBOC

Gli abstract clinici sono brevi descrizioni di articoli chiave selezionati, tratti dalla letteratura medica, e pubblicati su riviste con meccanismo di peer-review.

Sono riportati in quanto utili per la formazione clinica dei professionisti sanitari.

Test genetico per la sindrome del cancro ereditario della mammella e dell’ovaio

Contralateral Breast Cancer in BRCA1 and BRCA2 mutation carriers. Metcalfe K, et al. J Clin Onc 2004; 22(12):2328-35.

Association of risk-reducing surgery in BRCA1 and BRCA2 mutation carriers with cancer risk and mortality
Domchek SM, et al. JAMA 2010;304(9):967-75.

The Risk of Ovarian Cancer after Breast Cancer in BRCA1 and BRCA2 carriers. Metcalfe K, et al. Gynecologic Oncology 2005; 96:222-226

Segregation analysis offers a mechanism for variant reclassification in a small subset of cases but is especially powerful in classifying deleterious mutations. Eggington J et al. Poster presented at the European Society of Human Genetics (ESHG) Congress 2013

A clinical history weighting algorithm accurately classifies BRCA1and BRCA2 variants. Bowles K et al. Poster presented at the European Society of Human Genetics (ESHG) Congress 2013

BRCA1/2 mutation prevalence among triple-negative breast cancer patients from a large commercial testing cohort. Poster presented at the American Society of Clinical Oncology (ASCO) Annual Meeting 2013