Table 3.
Deleterious Breast Cancer Gene Mutations Identified in the Study Cohort
| 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.