Table 3A

Continued

B. BRCA2
Sequence changesGroup numbercNumber of changesPreviously reportede
DescriptionbExonCases (Total = 645)Benign breast diseased (Total = 342)Controls (Total = 319)
I1607V1121
5301insA1111BIC
G1700D1121
5950delCT1111BIC
I1929V112511BIC
S1946P1121BIC
S2041T1121
V2050I1121BIC
V2109I1121BIC
6561del51111
6633del51111BIC, (26), (27)
6999C/T1131
IVS12-31del6Intron 1221
IVS12-25del7Intron 1221
7182A/G1331
R2336W1321
7470A/G1431BIC, (22), (26), (27)
IVS14+53C>TIntron 1431053BIC, (26)
I2490T152521BIC, (26)
7734T/C15331
G2508S152512BIC
8314T/C1831
K2729N1824BIC
V2759M1821
A2786T1921
G2901D21211BIC
IVS22-7del4Intron 2222
9513C/T2531
10092A/T2731
E3377D2733
I3412V2731BIC, (22), (26)
  • a Rare changes are those seen in <5% of study subjects overall.

  • b Sequence change nomenclature as recommended by the BIC.

  • c Group classification descriptions are explained in “Materials and Methods.”

  • d Women with benign breast disease.

  • e BIC indicates changes seen in the Breast Cancer Information Core (BIC).

  • # indicates personal communication from J. Leary, Familial Cancer Service Westmead Hospital (Westmead, Australia)