When, within a family, there are several members with cancers of the breast or ovary a genetic predisposition (GP) to these cancers should be considered. Faced with a suggestive family history (Table 10.1), an onco-genetic consultation must be offered. This may confirm a constitutional mutation to the BRCA1 and BRCA2 genes within that family.
Mutation identified in a woman, termed the “index” case, becomes the basis for testing the whole family. Even though the initial test takes a long time (several months) and may be difficult, further investigations are simplified once a target has been identified in the index case. If no mutation is identified in the relatives, they may be reassured. On the other hand, if mutation is present, the latter are at high risk of developing breast and ovarian cancer. A meta-analysis of 22 population studies summarised the risks as shown in Tables 10.2 and 10.3.
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(2009). Prophylactic Mastectomy and BRCA1 or BRCA2 Gene Mutations. In: Fitoussi, A., Berry, M., Couturaud, B., Salmon, R.J. (eds) Oncoplastic and Reconstructive Surgery for Breast Cancer. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-00144-4_12
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