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. 2016 Jul 24;8(36):60487–60495. doi: 10.18632/oncotarget.10814

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).