| Syndrome | Gene | Mode of Inheritance | Clinical Manifestations |
| Basal cell nevus syndrome (Gorlin syndrome) | PTCH | Autosomal dominant | Basal cell carcinoma, medulloblastoma, ovarian fibrosarcoma, odontogenic keratocyst, palmar/plantar pits, ectopic calcification |
| Breast/ovarian cancer syndrome | BRCA1 | Autosomal dominant | Breast, ovary, fallopian tube, prostate, pancreas, and possibly gastric, as well as other sites |
| BRCA2 | Autosomal dominant | Breast, ovary, fallopian tube, prostate, pancreas, melanoma, and possibly gastric, as well as other sites |
| Cowden syndrome | PTEN | Autosomal dominant | Multiple mucocutaneous lesions, vitiligo, angiomas, benign proliferative disease of multiple organ systems, macrocephaly, breast cancer, thyroid (nonmedullary) cancer, endometrial cancer, and renal cancer, as well as other possible sites |
| Familial adenomatous polyposis (FAP) | APC | Autosomal dominant | Multiple colon and/or rectal adenomatous polyps (>100 polyps = FAP; < 100 polyps = attenuated FAP), polyps in the upper gastrointestinal tract, osteomas, epidermoid cysts, desmoid tumors, congenital hypertrophy of retinal pigment, dental abnormalities and cancers of the thyroid, small bowel, hepatoblastoma, and brain tumors |
| Familial juvenile polyposis | BRIP1A SMAD4 | Autosomal dominant | Hamartomatous polyps of the stomach, small intestine, colon and rectum. Colon cancer, as well as cancers of the stomach, duodenum, and pancreas |
| Fanconi anemia | FANCA FANCB/FAAP95 FANCC FANCD1?BRCA2 FANCD2 FANCE FANCF FANCG/XRCC FANCI/KIAA1784 FANCJ/BACH1/BRIP1 FANCL/PHF9/FAAP43/POG FANCM/FAAP250/Hef FANCCN/PALB2 | Autosomal recessive | Leukemia, hepatocellular carcinomas, squamous cell carcinomas—head/neck, esophagus, cervix, vulva, anus, hepatic adenoma, myelodysplastic syndrome, aplastic anemia |
| Li-Fraumeni syndrome | TP53 | Autosomal dominant | Breast cancer, sarcoma, brain tumors, leukemia, adrenocortical carcinoma, as well as other possible cancers |
| Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) | MLH1 MSH2 MSH6 MSH3 PMS1 PMS2 | Autosomal dominant | Cancers of the colon, rectum, stomach, small intestine, biliary tract, brain, endometrium, and ovary, and transitional cell carcinoma of the ureters and renal pelvis |
| Melanoma | CDKN2A CDK4 | Autosomal dominant | Melanoma, astrocytoma, pancreatic cancer, ocular melanoma, as well as possibly breast cancer |
| Multiple endocrine neoplasm type I | MEN1 | Autosomal dominant | Pancreatic and neuroendocrine tumors, gastrinomas, insulinomas, parathyroid disease, carcinoids, as well as adrenal cortical tumors, malignant schwannomas, ovarian tumors, pancreatic ... |