Table 2.
Selected genetic diseases associated with gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs).
| Illness/Phenotype | Pattern of Inheritance | Causative Gene(s) | Products of Genes Expression |
|---|---|---|---|
| Lynch syndrome | AD | hMSH2, hMLH1 (hPMS1, hPMS2, hMSH6) | MSH2, MLH1, MSH6, PMS2, PMS1 |
| Familial adenomatous polyposis 1 (FAP) | AD (AR) | APC (MUTYH) | APC (hMYH) |
| Li-Fraumeni syndrome | AD | TP53 | TP53 |
| NF1 | AD | NF1 | Neurofibromin |
| TSC-1 | AD | TSC1 | Hamartin |
| TSC-2 | AD | TSC2 | Tuberin |
| VHL (Von Hippel–Lindau disease) | AD | VHL | pVHL |
| MEN-1 | AD | MEN1 | MEN1 |
| MEN-2B | AD | RET | RET |
| MEN-4 | AD | CDKN1B | p27 |
| Polycythemia paraganglioma syndrome | - | EPAS1 | HIF2A |
| Mahvash disease (MVAH) | AR | GCGR | Glucagon receptor |
AD: autosomal dominant; AR: autosomal recessive; MEN-1: multiple endocrine neoplasia type I; MEN-2B: multiple endocrine neoplasia type IIB; MEN-4: multiple endocrine neoplasia type IV; NF1: neurofibromatosis type I; TSC-1: tuberous sclerosis complex type I; TSC-2: tuberous sclerosis complex type II.