Table 1.
Target genes
| Risk gene | Associated cancer(s) |
|---|---|
| BRCA1, BRCA2, RAD51C, RAD51D, CHEK2, PALB2, ATM, NBN, CDH1, BRIP1, and RAD50 | breast and ovarian |
| MLH1, MSH2, MLH3a, MSH6, PMS1a, PMS2, EPCAM, and RINT1 | endometrial, colorectal, ovarian, stomach, small intestinal, pancreatic, kidney, brain, and bile duct |
| BARD1, ABRAXAS1, FANCC, and XRCC2 | breast |
| TP53 | osteosarcoma, soft-tissue sarcoma, leukemia, brain (CNS), adrenal cortex, and breast |
| PTEN | breast, thyroid, and endometrial |
| APC | brain, colorectal, desmoid, gastric, hepatoblastoma, thyroid, and breast |
| STK11a | breast, skin, pancreatic, and testicular |
| MRE11 | breast, ovarian, bladder, colorectal, and rectal |
| NF1 | peripheral nerve sheath, CNS, breast, pheochromocytoma, gastrointestinal, fibrous histiocytoma, and thyroid |
| CDKN2A | melanoma, pancreatic, and breast |
| PIK3CA | breast, lung, ovarian, stomach, brain, colorectal, and rectal |
a
Genes were not included in the final capture design due to poor performance during optimization.