Table I.
Common genes with germline mutations in patients with cancer.
| Gene | Prevalence of mutation (globally) | Disease | Clinical characteristics | (Refs.) |
|---|---|---|---|---|
| BRCA1 | 1/500-1/300 | Breast, ovary, prostate and pancreas cancer | Sensitivity to platinum-containing therapy or PARP inhibitors | (25) |
| p53 | 1/5,000-1/500 | Li-Fraumeni syndrome | Breast cancer, soft tissue sarcoma and osteosarcoma | (26) |
| Adenomatous polyposis coli | 1/10,000-1/8,000 | Colorectal cancer | Familial occurrence, a younger age of onset, and is commonly seen in children. | (27–29) |
| MutL homolog 1, MSH2, MSH6 and PMS2 | 1/3,000 | Lynch syndrome | Colorectal, endometrial and ovarian cancer and gastric and ureteral carcinoma | (30) |
| Von Hippel-Lindau tumor suppressor | 1/36,000 | Von Hippel-Lindau syndrome | Retinal angioma, hemangioblastoma, pancreatic cyst and renal carcinoma | (31) |
| SDHB | 6/100-8/100 | SDHB-deficient paraganglioma/pheochromocytoma syndrome | Hypertension, headache, palpitations, hyperhidrosis and catecholamines in blood or urine | (32) |
SDBH, succinate dehydrogenase complex iron sulfur subunit B; MSH, mutS homolog; PMS2, PMS1 homolog 2, mismatch repair system component.