Table 4.
Prevalence of BRCA1/BRCA2 Mutation by Ethnicity and Family Cancer History.
Patient & Family History | Number of Patients who underwent BRCA testing | BRCA1/BRCA2 Mutation Prevalence | Gene/Mutation |
---|---|---|---|
Ashkenazi Jewish ancestry | 95 | 13 (13.7%) | 1 BRCA1*185delAG 1 BRCA1*5382insC 11 BRCA2*6174delT |
≥2 FDR or SDR with BRCA-associated cancer* | 30 | 5 (16.7%) | 5 BRCA2*6174delT |
1 FDR or SDR with a BRCA-associated cancer* | 38 | 6 (15.8%) | 1 BRCA1*185delAG 1 BRCA1*5382insC 4 BRCA2*6174delT |
No family history | 27 | 2 (7.4%) | 2 BRCA2*6174delT |
Non-Ashkenazi ancestry | 56 | 4 (7.1%) | 2 BRCA1 2 BRCA2 |
≥2 FDR or SDR with BRCA-associated cancer* | 26 | 2 (7.7%) | 1 BRCA1 1 BRCA2 |
1 FDR or SDR with a BRCA-associated cancer* | 18 | 2 (11.1%) | 1 BRCA1 1 BRCA2 |
No family history | 12 | 0 | N/A |
FDR = first degree relative; SDR = second degree relative
BRCA-associated cancer includes breast, ovarian, pancreas