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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.
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