Table 4. Recurrent mutations in BRCA1/2 detected in 940 probands with personal and/or family history of breast/ovary cancer.
MUTATION | UNRELATED PROBANDS (% of the total probands) | REPORTED ORIGIN |
---|---|---|
BRCA1 | ||
c.211A>G (p.Arg71Gly) | 11 (1.17) | Spanish |
c.181T>G (p.Cys61Gly) | 6 (0.64) | Italian |
BRCA2 | ||
c.2808_2811delACAA (p.Lys936_Gln937LysGlnfs) | 6 (0.64) | French |
c.6037A>T (p.Lys2013*) | 4 (0.42) | Portuguese / German |
Total recurrents | 32 (3.4) | - |
Total recurrents / total mutated (179) = 17.8% | - | - |
Note: The mutation in BRCA1: c.4964_4982del19 (p.Ser1655Tyrfs) is to be added in the recurrent mutations panel as it was found five times, including three recent patients (study in progress, see text).