Table 1.
DNA repair genes deregulated in familial cancer, and their penetrance in breast cancer.
| Genea | Function/Pathway | Penetranceb |
|---|---|---|
| AKT1 | AKT signaling | Low |
| ATM | Double Strand Break (DSB) repair | Intermediate |
| BARD1 | BRCA1-associated protein complex | Intermediate |
| BRCA1 | BRCA1-associated protein complex | High |
| BRCA2 | Fanconi/BRCA | High |
| BRIP1 | Fanconi/BRCA | Intermediate |
| CDH1 | Cell adhesion | High |
| CHEK2 | DSB repair | Intermediate |
| EXO1 | DSB repair | Unknown |
| FAM175A/Abraxas | DSB repair | Intermediate |
| GEN1 | DSB repair | Unknown |
| MRE11/RAD50/NBS1 | DSB repair | Intermediate |
| PALB2 | Fanconi/BRCA | Intermediate |
| PIK3CA | AKT signaling | Unknown |
| PTEN | PI3K/MAPK Signaling | High |
| RAD51 | DSB Repair | High |
| RAD51C | Fanconi/BRCA | Intermediate |
| RAD51D | Fanconi/BRCA | Intermediate |
| STK11 | Cell Cycle/p53 regulation | High |
| TP53 | Cell growth | High |
| XRCC2 | DSB repair | Intermediate |
a
Some of the major DNA repair genes found mutated, silenced, or over-expressed in familial breast cancer.
b
Penetrance is indicated as low (<5%) intermediate (5–20%) or high (>20%) increased lifetime risk of developing breast cancer.