Table 3 Ten examples of candidate genes and their associations with cancer.
From: Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors
Candidate genes | OMIM | Related cancers | Non-cancerous syndrome/disease | Mechanism of function | References |
|---|---|---|---|---|---|
SMAD7 | 602932 | Familial colorectal cancer; pancreatic cancer | None | Via inhibiting TGF-b signaling | |
PRKN | 602544 | Hereditary breast and/or ovarian cancer, lung cancer | Familial Parkinson disease | Via regulating PI3K/AKT pathway via inactivation of PTEN | |
TYR | 606933 | Hereditary melanoma; basal cell carcinoma | Oculocutaneous albinism | Via dysregulation of melanin synthesis | |
GHR | 600946 | Hereditary breast cancer | Familial cardiovascular disease | Via GH/IGF-1 pathway | |
SAMD9 | 610456 | Familial normophosphatemic tumoral calcinosis; inherited myelodysplastic syndromes; breast and colon cancers | Hereditary connective tissue disorder | Via impairing endosomal function | |
TMPRSS3 | 605511 | Breast, ovarian, and pancreatic cancers | Hereditary sensorineural hearing loss | Via regulating ERK1/2 and PI3K/Akt pathways | |
SMARCAL1 | 606622 | Clear-cell renal cell carcinoma; endometrioid cancer | Hereditary connective tissue disorder | Via defects in DNA damage repair/cell cycle checkpoints | |
ABCB4 | 171060 | Lung, breast, head and neck, skin and cervix cancers; cholangiocarcinoma | Progressive familial intrahepatic cholestasis | Via genome instability and copy number gains in the MAPK signaling pathway | |
MCPH1 | 607117 | Hereditary breast cancer; ovarian cancer | Hereditary connective tissue disorder | Via causing mitotic errors its involvement in the spindle checkpoint and apoptosis | |
MERTK | 604705 | Glioblastoma; rhabdomyosarcoma; breast, colon, and gastric cancers | Hereditary retinal degeneration | Via regulating ERK1/2 and PI3K/Akt pathways |
