Table 1.
List of genes and their associated disorders for the Healthy Oregon Project
| Gene | OMIM non-somatic inherited cancer disorder(s) or familial hypercholesterolemia | Prevalence of selected disorders or cancer typesa |
|---|---|---|
| APC | adenomatous polyposis coli (MIM: 175100); brain tumor-polyposis syndrome 2 (MIM: 175100); desmoid disease, hereditary (MIM: 135290); Gardner syndrome (MIM: 175100) | familial adenomatous polyposis: 1:6,850 to 1:31,250 |
| ATM | ataxia-telangiectasia (MIM: 208900)b; susceptibility to breast cancer (MIM: 114480) | ataxia-telangiectasia: 1:40,000 to 1:100,000 |
| BAP1 | tumor predisposition syndrome (MIM: 614327) | BAP1-tumor predisposition syndrome: prevalence unknown |
| BMPR1A | polyposis syndrome, hereditary mixed, 2 (MIM: 610069); polyposis, juvenile intestinal (MIM: 174900) | juvenile polyposis syndrome: 1:16,000 to 1:100,000 |
| BRCA1 | Fanconi anemia, complementation group S (MIM: 617883)b; breast-ovarian cancer, familial, 1 (MIM: 604370); pancreatic cancer, susceptibility to, 4 (MIM: 614320) | BRCA1 and BRCA2-associated hereditary breast and ovarian cancer: 1:400 to 1:500 (higher in specific population groups) |
| BRCA2 | Fanconi anemia, complementation group D1 (MIM: 605724)b; Wilms tumor (MIM: 194070); breast cancer, male, susceptibility to (MIM: 114480); breast-ovarian cancer, familial, 2 (MIM: 612555); glioblastoma 3 (MIM: 613029)b; medulloblastoma (MIM: 155255); pancreatic cancer 2 (MIM: 613347); prostate cancer (MIM: 176807) | BRCA1 and BRCA2-associated hereditary breast and ovarian cancer: 1:400 to 1:500 (higher in specific population groups) |
| BRIP1 | Fanconi anemia, complementation group J (MIM: 609054)b; breast cancer, early-onset, susceptibility to (MIM: 114480) | ovarian cancer due to BRIP1: estimated at ∼1:11223 |
| CDH1 | blepharocheilodontic syndrome 1 (MIM: 119580); gastric cancer, hereditary diffuse, with or without cleft lip and/or palate (MIM: 137215); breast cancer, lobular (MIM: 114480); prostate cancer, susceptibility to (MIM: 176807) | hereditary diffuse gastric cancer: prevalence unknown; 1% to 3% of cases due to CDH1 pathogenic variant |
| CDK4 | melanoma, cutaneous malignant, 3 (MIM: 609048) | melanoma, cutaneous malignant due to CDK4: prevalence unknown |
| CDKN2A | melanoma and neural system tumor syndrome (MIM: 155755); pancreatic cancer/melanoma syndrome (MIM: 606719); melanoma, cutaneous malignant, 2 (MIM: 155601) | familial atypical multiple mole melanoma (FAMMM): prevalence unknown |
| CHEK2 | Li-Fraumeni syndrome (MIM: 609265); colorectal cancer, susceptibility to (MIM: 114500); breast cancer, susceptibility to (MIM: 114480); prostate cancer, familial, susceptibility to (MIM: 176807) | colon cancer due to CHEK2: 2:10024 |
| MEN1 | multiple endocrine neoplasia 1 (MIM: 131100) | multiple endocrine neoplasia 1: 1:10,000 to 1:100,000 |
| MITF | melanoma, cutaneous malignant, susceptibility to, 8 (MIM: 614456) | MITF-related melanoma and renal cell carcinoma predisposition syndrome: <1:1,000,00025 |
| MLH1 | colorectal cancer, hereditary nonpolyposis, type 2 (MIM: 609310); mismatch repair cancer syndrome 1 (MIM: 276300)b; Muir-Torre syndrome (MIM: 158320) | Lynch syndrome: 1:279 |
| MSH2 | colorectal cancer, hereditary nonpolyposis, type 1 (MIM: 120435); mismatch repair cancer syndrome 2 (MIM: 619096)b; Muir-Torre syndrome (MIM: 158320) | Lynch syndrome: 1:279 |
| MSH6 | colorectal cancer, hereditary nonpolyposis, type 5 (MIM: 614350); mismatch repair cancer syndrome 3 (MIM: 619097)b; endometrial cancer, familial (MIM: 608089) | Lynch syndrome: 1:279 |
| MUTYH | adenomas, multiple colorectal (MIM: 608456)b | MUTYH-associated polyposis: 1:20,00 to 1:60,000 |
| NBN | aplastic anemia (MIM: 609135); leukemia, acute lymphoblastic (MIM: 613065); Nijmegen breakage syndrome (MIM: 251260)b | Nijmegen breakage syndrome: ∼1:100,000 |
| PALB2 | Fanconi anemia, complementation group N (MIM: 610832)b; breast cancer, susceptibility to (MIM: 114480); pancreatic cancer, susceptibility to, 3 (MIM: 613348) | breast, pancreas, and ovarian cancer due to PALB2: prevalence unknown |
| PMS2 | colorectal cancer, hereditary nonpolyposis, type 4 (MIM: 614337); mismatch repair cancer syndrome 4 (MIM: 619101)b | Lynch syndrome: 1:279 |
| POLD1 | colorectal cancer, susceptibility to, 10 (MIM: 612591) | polymerase proofreading-associated polyposis (PPAP): prevalence unknown |
| PTEN | Cowden syndrome 1 (MIM: 158350); Lhermitte-Duclos syndrome (MIM: 158350); glioma susceptibility 2 (MIM: 613028); meningioma (MIM: 607174) | Cowden syndrome: 1:200,000 |
| RAD51C | Fanconi anemia, complementation group O (MIM: 613390)b; breast-ovarian cancer, familial, susceptibility to, 3 (MIM: 613399) | breast-ovarian cancer, familial due to RAD51C: prevalence unknown |
| RAD51D | breast-ovarian cancer, familial, susceptibility to, 4 (MIM: 614291) | breast-ovarian cancer, familial due to RAD51D: prevalence unknown |
| RB1 | retinoblastoma (MIM: 180200); retinoblastoma, trilateral (MIM: 180200) | retinoblastoma: estimated at 1.5:100,00026 |
| RET | medullary thyroid carcinoma (MIM: 155240); multiple endocrine neoplasia IIA (MIM: 171400); multiple endocrine neoplasia IIB (MIM: 162300); pheochromocytoma (MIM: 171300); | multiple endocrine neoplasia type 2: 1:35,000 |
| SMAD4 | juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (MIM: 175050); Myhre syndrome (MIM: 139210); polyposis, juvenile intestinal (MIM: 174900) | juvenile polyposis syndrome: 1:16,000 to 1:100,000 |
| STK11 | Peutz-Jeghers syndrome (MIM: 175200) | Peutz-Jeghers syndrome: 1:25,000 to 1:280,000 |
| TP53 | bone marrow failure syndrome 5 (MIM: 618165); Li-Fraumeni syndrome (MIM: 151623); adrenocortical carcinoma, pediatric (MIM: 202300); basal cell carcinoma 7 (MIM: 614740); choroid plexus papilloma (MIM: 260500); colorectal cancer (MIM: 114500); glioma susceptibility 1 (MIM: 137800); osteosarcoma (MIM: 259500) | Li-Fraumeni syndrome: 1:3,555 to 1:5,476 |
| TSC1 | lymphangioleiomyomatosis (MIM: 606690); tuberous sclerosis-1 (MIM: 191100) | tuberous sclerosis complex: 1:10,000 to 1:100,00025 |
| TSC2 | tuberous sclerosis-2 (MIM: 613254) | tuberous sclerosis complex: 1:10,000 to 1:100,00025 |
| LDLR | hypercholesterolemia, familial, 1 (MIM: 143890); LDL cholesterol level QTL2 (MIM: 143890) | familial hypercholesterolemia: 1:500 |
All disorders listed act as autosomal dominant unless otherwise indicated.
a
All prevalence values listed are from GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1116/) unless otherwise indicated
b
Autosomal recessive