Apoptosis and cell cycle genes and SNPs evaluated in the NCI adult brain tumor study
Gene symbol | Gene name | Location | SNP 500 AA or nt variant ID | RS number | Basis of selection | Epidemiologic association | References |
---|---|---|---|---|---|---|---|
Prevalence*/functional considerations | |||||||
CASP8 | Caspase-8, apoptosis-related cysteine peptidase | 2q33-q34 | Ex13+51G>C (D285H) | rs1045485 | >0.1 prevalence | Breast cancer | (20) |
Amino acid change | |||||||
CASP8 | Ex14-271A>T | rs13113 | >0.1 prevalence | NHL | (19) | ||
Exonic region | |||||||
Selected for haplotype | |||||||
CCND1 | Cyclin D1 | 11q13 | Ex4-1G>A | rs603965 | >0.1 prevalence | Bladder cancer, colorectal cancer, head and neck cancer, lung cancer, leukemia, NHL | (24, 25) |
Affects protein splicing | |||||||
CCND1 | Ex5+852C>G | rs678653 | >0.1 prevalence | ||||
Exonic region | |||||||
Selected for haplotype | |||||||
>0.1 prevalence | |||||||
CCNH | Cyclin H | 5q13.3-q14 | Ex8+49T>C | rs2266690 | Amino acid change | ||
V270A | Gene involved in cell-cycle control | ||||||
CDKN1A | Cyclin-dependent kinase inhibitor 1A | 6p21.2 | Ex2+98C>A | rs1801270 | >0.1 prevalence | (37) | |
S31R | Amino acid change | ||||||
Gene alterations in brain tumors | |||||||
CDKN2A | Cyclin-dependent kinase inhibitor 2A | 9p21 | Ex3-16G>A | rs3731249 | Amino acid change | ||
A148T | Gene alternations in brain tumors | ||||||
CHEK1 | CHK1 checkpoint homologue | 11q24-q24 | Ex13+76A>G | rs506504 | Exonic region | ||
I471V | Gene involved in cell-cycle control | ||||||
CHEK2 | CHK2 checkpoint homologue | 22q12.1 | IVS9-200G>A | rs2267130 | >0.1 prevalence | ||
Gene involved in cell-cycle control | |||||||
MDM2 | Mdm2, transformed 3T3 cell double minute 2, p53 binding protein | 12q14.3-q15 | Ex12+162A>G | rs769412 | Exonic region | (37) | |
Negative regulator of TP53 | |||||||
Gene alterations in brain tumors | |||||||
PTEN | Phosphatase and tensin homologue | 10q23.3 | 1515 bp 3′ of STP C>T | rs701848 | >0.1 prevalence | (37) | |
3′ region often contains regulatory elements important for transcription and translation | |||||||
Gene alterations in brain tumors | |||||||
TP53 | Tumor protein p53 | 17p13.1 | Ex4+119C>G | rs1042522 | >0.1 prevalence | (37) | |
P72R | Amino acid change | ||||||
Gene alterations in brain tumors |
Abbreviation: NHL, non–Hodgkin's lymphoma.
↵* Based on SNP500.