Table 3.
Identified Deleterious Mutations | |
---|---|
BRCA1 | BRCA2 |
3312insG | 4075delGT |
3509delA | 5849del4 |
3600del11 | 6174delT |
3875del4 | 6662del8 |
4154delA | 6759del4 |
5194del4 | 7297delCT |
5385insC | 802delAT |
943ins10 | 8513delC |
C1251X | 8568del4 |
C61G | 886delGT |
Del exon 17 | 9325insA |
Del exons 1-17 | 9538delAA |
Del exons 16-17 | 9631delC |
Del exons 9-12 | 9663delGT |
Dup exons 3-8 | 983del4 |
E1134X | 9894delT |
E1250X | C2689X |
E143X | D2723H |
E733X | Del exons 1-2 |
Exon 13 ins 6kb | |
IVS13 + 1 G>A | E1812X |
IVS16+6T>G | E49X |
IVS20+1G>A | K2013X |
IVS23+1G>A | Q2042X |
K679X | Q2957X |
M1775R | R2520X |
Q1200X | Y1655X |
Q544X | Y1894X |
Q563X | |
R1443X | |
R1751X | |
S713X | |
S955X | |
Y1563X | |
Y978X |
Abbreviations: A, alanine; BRCA, breast cancer gene; C, cysteine; D, aspartic acid; del, deletion; dup, duplication; E, glutamic acid; G, glycine; H, histidine; ins, insertion; IV, quadrivalent; M, methionine; Q, glutamine; R, arginine; S, serine; T, threonine; X, unspecified amino acid; Y, tyrosine.