Table 3 Frequencies and types of BRCA2 familial mutations
Exon noFamilial mutationNo of individuals (%) withBRCA2* mutations (nā€Š=ā€Š25)
116714_6717delACAA2 (11.8)
6503delTT1 (5.9)
6174delT1 (5.9)
6137C>A (S1970X)2 (11.8)
5950delCT2 (11.8)
5368delATTT*1 (5.9)
5056insG*3 (17.6)
4859insA2 (11.8)
4329insA*1 (5.9)
4329delA*1 (5.9)
3386T>G (L1053X)1 (5.9)
3036delACAA1 (5.9)
Total18
2295G>T4 (100)
Total4
239138insA*1
Total1
8860ā€“1G>A*2 (100)
Total2
  • *Novel mutations not reported in Breast Cancer Information Core database.