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Table 2 Summary of the mutations detected

From: BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin

Total patients = 134 (group) Age at diagnosis (n) Family history BRCA1 mutation (%) BRCA2 mutation (%) % of mutated
37 (EO) ≤40 years (37) No 4 (10.8) 2 (5.4) 16.2
40 (Ashk-FH) ≤40 years (12) Yes 3 (25.0) 4 (33.3) 58.3
  >40 years (28) Yes 6 (21.4) 4 (14.3) 35.7
57 (FH) ≤40 years (31) Yes 3 (9.7) 3 (9.7) 19.4
  >40 years (26) Yes 7 (26.9) 2 (7.7) 35.8
  1. EO: Early onset; Ashk: Ashkenazi; FH: Family History.
  2. Total coding BRCA1-2 sequencing was performed for the patients in all groups except.
  3. the Ashkenazi patients which were tested for the panel of three mutations.
  4. (n): number of probands analyzed.