Table3.
Examples of common hereditary cancer susceptibility genes on NGS panels by cancer type (panel compositions vary between laboratories)
| Gene | Syndrome | Clinical features | Phenotype MIM number |
| MIM: Mendelian inheritance in man, http://www.omim.org | |||
| Gastrointestinal cancer | |||
| APC | Familial adenomatous polyposis/attenuated familial adenomatous polyposis | Colonic and gastric polyposis, colon, duodenal, pancreatic and papillary thyroid cancers, childhood hepatoblastoma, medulloblastoma, desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), osteomas, dental abnormalities, fibromas, epidermoid cysts | 175100 |
| BMPR1A, SMAD4 | Juvenile polyposis syndrome | Juvenile-type hamartomatous polyps, colon (predominant), gastric, small bowel and pancreatic cancers | 174900 |
| CDH1 | Hereditary diffuse gastric cancer | Lobular breast, diffuse (signet ring) gastric, signet ring colon cancers | 137215 |
| EPCAM, MLH1, MSH2, MSH6, PMS2 | Lynch syndrome | Colorectal, endometrial, ovarian, gastric, small bowel, urothelial, and pancreatic cancers, glioblastoma, sebaceous carcinoma, possible breast cancer risk | 613244, 609310, 120435, 614350, 614337 |
| MUTYH | Biallelic-MUTYH-associated polyposis | Colorectal polyposis, colon cancer, possible breast cancer risk | 608456 |
| PTEN | Cowden syndrome/PTEN hamartoma syndrome | Benign skin lesions (trichilemmomas, oral papillomas, acral keratosis), gastrointestinal hamartomas, breast, thyroid endometrial, colon, and renal cancers, gastrointestinal hamartomas | 158350 |
| STK11 | Peutz-Jeghers syndrome | Breast cancer, gastrointestinal hamartomatous polyposis, mucosal pigmentation, colorectal, gastric, small bowel, cervical, and testicular cancers, ovarian sex cord tumors | 175200 |
| TP53 | Li-Fraumeni syndrome | Childhood cancer, sarcoma, brain tumors, adrenal cortical tumors, breast cancer (early-onset), colorectal cancer, leukemia, other cancers | 151623 |
| CHEK2 | Unnamed | Elevated breast, colon and prostate cancer risks | 604373-breast and colorectal cancer, 114480-breast cancer susceptibility, 176806-prostate cancer susceptibility |
| Pancreatic cancer | |||
| APC | Familial adenomatous polyposis/attenuated familial adenomatous polyposis | Colonic and gastric polyposis, colon, duodenal, pancreatic and papillary thyroid cancers, childhood hepatoblastoma, medulloblastoma, desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), osteomas, dental abnormalities, fibromas, epidermoid cysts | 175100 |
| BRCA1, BRCA2 | Hereditary breast and ovarian cancer | Breast, ovarian, male breast, pancreatic, and prostate cancers, melanoma | 604370, 612555 614320-BRCA1 pancreatic cancer risk, 613347-BRCA2 pancreatic cancer risk |
| CDKN2A | Pancreatic cancer/ melanoma syndrome | Pancreatic cancer and melanoma | 606719 |
| EPCAM, MLH1, MSH2, MSH6, PMS2 | Lynch syndrome | Colorectal, endometrial, ovarian, gastric, small bowel, urothelial, and pancreatic cancers, glioblastoma, sebaceous carcinoma, possible breast cancer risk | 613244, 609310, 120435, 614350, 614337 |
| PRSS1 | Hereditary pancreatitis | Chronic pancreatitis, pancreatic cancer | 167800 |
| STK11 | Peutz-Jeghers syndrome | Breast cancer, gastrointestinal hamartomatous polyposis, mucosal pigmentation, colorectal, gastric, small bowel, cervical, and testicular cancers, ovarian sex cord tumors | 175200 260350-pancreatic cancer |
| TP53 | Li-Fraumeni syndrome | Childhood cancer, sarcoma, brain tumors, adrenal cortical tumors, breast cancer (early-onset), colorectal cancer, leukemia, other cancer | 151623 260350-pancreatic cancer |
| ATM | Monoallelic-unnamed biallelic-ataxia telangiectasia | Elevated breast and pancreatic cancer risks | 114480 –breast cancer susceptibility, 208900-biallelic ataxia telangiectasia |
| PALB2 | Unnamed | Elevated breast and pancreatic cancer risks, suspected male breast cancer risk | 114480-breast cancer susceptibility, 612248-pancreatic cancer susceptibility |
| Endometrial cancer | |||
| EPCAM, MLH1, MSH2, MSH6, PMS2 | Lynch syndrome | Colorectal, endometrial, ovarian, gastric, small bowel, urothelial, and pancreatic cancers, glioblastoma, sebaceous carcinoma, possible breast cancer risk | 613244, 609310, 120435, 614350, 614337 |
| PTEN | Cowden syndrome/PTEN hamartoma syndrome | Benign skin lesions (trichilemmomas, oral papillomas, acral keratosis), gastrointestinal hamartomas, breast, thyroid endometrial, colon, and renal cancers, gastrointestinal hamartomas | 158350 |
| TP53 | Li-Fraumeni syndrome | Childhood cancer, sarcoma, brain tumors, adrenal cortical tumors, breast cancer (early-onset), colorectal cancer, leukemia, other cancer | 151623 260350-pancreatic cancer |