Article
Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy.
Molecular genetics & genomic medicine - 1 Dec 2022
Negri Serena, De Ponti Elena, Sina Federica Paola, Sala Elena, Dell'Oro Cristina, Roversi Gaia, Lazzarin Sara, Delle Marchette Martina, Inzoli Alesssandra, Toso Claudia, Fumagalli Simona, Campanella Maria, Kotsopoulos Joanne, Fruscio Robert
Abstract excerpt
BACKGROUND: BRCA1 and BRCA2 gene mutations are responsible for 5% of breast cancer (BC) and 10-15% of ovarian cancer (EOC). The presence of a germline mutation and therefore the identification of subjects at high risk of developing cancer should ideally precede the onset of the disease, so that appropriate surveillance and risk-reducing treatments can be proposed. In this study, we revisited the family history...
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