[Oncogenetic consultation for breast cancer]

Abstract

Five percent of breast cancers are associated with a genetic predisposition, transmitted as an autosomal dominant trait of either maternal or paternal origin. Mutations of the BRCA1 or BRCA2 genes are associated with a high risk of breast and ovarian cancer and depend in part on these predispositions. The objectives of an oncogenetic consultation are to understand the origin of a personal and family history of breast cancer by using the resources of formal and molecular genetics and to guide the management of the consulting patient and her relatives. The diagnostic genetic test performed from an "index case" is intended to identify genetic alterations specific to each family. The failure to identify a mutation in a diagnostic test does not rule out the existence of a predisposing factor. On the other hand, the identification of a mutation makes it possible to offer a simple test to relatives, and its negative result can provide reassurance. Optimal management of patients with a mutation of the BRCA1 or BRCA2 genes requires frequent clinical examinations and at least annual imaging (mammography, ultrasound or breast MRI as part of a protocol) from the age of 25-30 years. Prophylactic mastectomy may be envisioned. Prophylactic adnexectomy is also usually recommended to prevent ovarian cancer, around the age of 40 years.