Table 3

Number and distribution of rarea sequence changes

A. BRCA1
Sequence changesGroup numbercNumber of changesPreviously reportede
DescriptionbExonCases (Total = 645)Benign breast diseased (Total = 342)Controls (Total = 319)
77insTA5′UTR31
IVS3-52T>GIntron 331
IVS3-2A>GIntron 312
E85del621
P115L721
IVS8+13delGIntron 821
IVS8+21delTIntron 8211
IVS8-73delTIntron 831
IVS8-14G>AIntron 8211
V191I921BIC
IVS9-34T>CIntron 9241
G275D112222
953T/G1132
D330N1121
E575K1121
1886C/T1131
S590del1121
2229delAA1111BIC
T737A1121
R762S1121
2430T/C11311BIC, (20), (23), (24), (25), (27)
I783V1121
2615G/A1131
Y856H112271315BIC, (4)
3389delAC1111
3443insA1111
P1150S11212BIC, (4), (24), (27)
A1199V112111
IVS12+22T>AIntron 1221
4427T/C1331BIC, (20), (27)
M1628T162231BIC
IVS17-8T>AIntron 1721
5423C/T2131
5429G/A2131
IVS22+32A>TIntron 2222(4), (25)
5589del82412BIC
5639C/T2431
B. BRCA2
Q147R521BIC
D156G521BIC
808delT711
K241R921
N289H1021BIC, (27)
C315S102953BIC
1446C/G1031
1529del410111BIC, (21)
1593A/G10311BIC, (26), (27)
V465del1021
H523R1021
1872G/A103211
2000del41011BIC, #
S708T1121BIC
2355G/C1131
V783I1121
3391del41111
3403C/T1131
3648T/C1132
4035T/C11331BIC, (26)
M1272V1121BIC
N1459S11211
Q1502R1121
K1533N11211BIC
4965A/G1131