Table 4.
Partial list of familial tumors and their causative genes
| Disease name | MIM number | Gene symbol † | MIM number | Locus |
|---|---|---|---|---|
| I. Autosomal Dominant | ||||
| 1. Tumor suppresor gene | ||||
| a. neuron, sensory organ, sukin, kidney, urinary organ | ||||
| Retinoblastoma (RB) | 180200 | RB1 | 180200 | 13q14.1‐q14.2 |
| Neurofibromatosis, type I (NF1),von Recklinghausen disease | 162200 | NF1 | 162200 | 17q11.2 |
| Neurofibromatosis, type II (NF2) | 101000 | NF2 | 101000 | 22q12.2 |
| Tuberous sclerosis (TS) | 191100 | TSC1 | 605284 | 9q34 |
| TSC2 | 191092 | 16p13.3 | ||
| Wilms tumor 1(WT1), nephroblastoma | 194070 | WT1 | 194070 | 11p13 |
| von Hippel‐Lindau Syndrome (VHL) | 193300 | VHL | 193300 | 3p26‐p25 |
| melanoma, cutaneous malignant, 2 (CMM2) | 155601 | p16/MTS1 (CDKN2A) | 600160 | 9p21 |
| Basal cell nevus syndrome (BCNS) (Gorlinsyndrome) | 109400 | PTCH | 601309 | 9q22.3 |
| PTCH2 | 603673 | 1p32 | ||
| b. endocrine | ||||
| Multiple endocrine neoplasia, type I (MEN 1) | 131100 | MEN1 | 131100 | 11q13 |
| c. extremity | ||||
| Exostoses, multiple, type I (EXT) | 133700 | EXT1 | 133700 | 8q24.11‐q24.3 |
| EXT2 | 133701 | 11p12‐p11 | ||
| d. digestive organ | ||||
| Gastric cancer | 137215 | ECAD (CDH1) | 192090 | 16q22.1 |
| Familial adenomatous polyposis (FAP) | 175100 | APC | 175100 | 5q21‐q22 |
| Gardner syndrome (GS) | 175100 | APC | 175100 | 5q21‐q22 |
| Turcot syndrome | 276300 | APC | 175100 | 5q21‐q22 |
| MLH1 | 120436 | 3p21.3 | ||
| PMS2 | 600259 | 7p22 | ||
| Peutz‐Jeghers syndrome (PJS) | 175200 | STK11/LKB1 | 602216 | 19p13.3 |
| Polyposis, juvenile intestinal (PJI) | 174900 | PTEN | 601728 | 10q23 |
| SMAD4/DPC4 | 600993 | 18q21 | ||
| Cowden disease (CD) | 158350 | PTEN | 601728 | 10q23 |
| e. multiple organ | ||||
| Li‐Fraumeni syndrome (LFS) | 151623 | p53 (TP53) | 191170 | 17p13.1 |
| 2. Oncogene | ||||
| Multiple endocrine neoplasia, type II (MEN2) | 171400 | RET | 164761 | 10q11.2 |
| Renal cell carcinoma, papillary, 1 (PRCC) | 179755 | MET | 164860 | 7q31 |
| Gastrointestinal stromal tumor (GIST) | 164920 | KIT | 164920 | 4q21 |
| 3. DNA repair‐related gene | ||||
| Colorectal cancer, hereditary non‐polyposis, type 1 (HNPCC1) | 120435 | MSH2 | 120435 | 2p21 |
| Colorectal cancer, hereditary non‐polyposis, type 2 (HNPCC2) | 120436 | MLH1 | 120436 | 3p21.3 |
| Colorectal cancer, hereditary non‐polyposis, type 5 (HNPCC5) | 600678 | MSH6 | 600678 | 2p16 |
| Colorectal cancer, hereditary non‐polyposis, type 3 (HNPCC3) | 600258 | PMS1 | 600258 | 2q31‐q33 |
| Colorectal cancer, hereditary non‐polyposis, type 4 (HNPCC4) | 600259 | PMS2 | 600259 | 7p22 |
| Breast cancer, familial (FBC) | 114480 | BRCA1 | 113705 | 17q21 |
| BRCA2 | 600185 | 13q12.3 | ||
| II. Autosomel Recessive | ||||
| Xeroderma pigmentosum | XPA | 278700 | 9q34.1 | |
| XPB (ERCC3) | 133510 | 2q21 | ||
| XPC | 278720 | 3p25 | ||
| XPD (ERCC2) | 278730 | 19q13.2 | ||
| XPE (DDB2) | 278740 | 11p12‐p11 | ||
| XPF (ERCC4) | 278760 | 16p13 | ||
| XPG (ERCC5) | 133530 | 13q33 | ||
| Ataxia‐telangiectasia (AT) | 208900 | ATM | 208900 | 11q22.3 |
| Fanconi anemia | FAA (FANCA) | 227650 | 16q24.3 | |
| FAC (FANCC) | 227645 | 9q22.3 | ||
| Bloom syndrome (BLM) | 210900 | BLM (RECQ2) | 604610 | 15q26.1 |
| Werner syndrome (WRN) | 277700 | WRN (RECQ3) | 604611 | 8p12‐11.2 |
| Chediak‐Higashi syndrome (CGS1) | 214500 | LYST (CHS1) | 214500 | 1q42.1‐q42.2 |
| III. X‐linked | ||||
| Lymphoproliferative disease, X‐linked (XLP) | 308240 | SH2D1A | 308240 | Xq25 |
| Wiskott‐Aldrich syndrome (WAS) | 301000 | WAS | 301000 | Xp11.23‐p11.22 |
†
)The genes which has been already entered in MutationView are shown in bold character.