Table 3

Genetic variants and polymorphisms in BRCA1 and BRCA2

ExonDesignationNucleotideCodonIn BICa site
BRCA1
 Genetic variants
  16M1628T50021628Yes
  24A1843P56461843Yes
 Polymorphisms
   3233G>A23338Yes
  112201C>T2201694Yes
  112430T>C2430771Yes
  11P871L2731871Yes
  11E1038G32321038Yes
  11K1183R36671183Yes
  134427T>C44271436Yes
  16S1613G49561613Yes
BRCA2
 Genetic variants
   7L184P779184Yes
  11A737S2437737Yes
  11V2109I65532109Yes
 Polymorphisms
   2203G>A203IVSYes
  10H372N1342372Yes
  101593A>G1593455Yes
  11M784V2578784Yes
  113624A>G36241132Yes
  114035T>C40351269Yes
  147470A>G74702414Yes
  27I3412V104623412Yes
  • a BIC, The Breast Cancer Information Core; IVS, a noncoding intervening sequence.