Abstract
BRCA1 and BRCA2 germline mutations explain only a small proportion of breast cancer predispositions. More genes are obviously involved. Some are causative of predispositions with broader tumor spectrum and have been studied for many years. Other genes have been recently discovered, thanks to technological evolutions and the growing knowledge of the functions of BRCA genes and their partners. The transfer to clinical practice requires an accurate evaluation of the consequences of each gene mutation. In most of the cases, available data are not sufficient to consider an immediate use of genetic counselling.
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