Table 1.

Apoptosis and cell cycle genes and SNPs evaluated in the NCI adult brain tumor study

Gene symbolGene nameLocationSNP 500 AA or nt variant IDRS numberBasis of selection
Epidemiologic associationReferences
Prevalence*/functional considerations
CASP8Caspase-8, apoptosis-related cysteine peptidase2q33-q34Ex13+51G>C (D285H)rs1045485>0.1 prevalenceBreast cancer(20)
Amino acid change
CASP8Ex14-271A>Trs13113>0.1 prevalenceNHL(19)
Exonic region
Selected for haplotype
CCND1Cyclin D111q13Ex4-1G>Ars603965>0.1 prevalenceBladder cancer, colorectal cancer, head and neck cancer, lung cancer, leukemia, NHL(24, 25)
Affects protein splicing
CCND1Ex5+852C>Grs678653>0.1 prevalence
Exonic region
Selected for haplotype
>0.1 prevalence
CCNHCyclin H5q13.3-q14Ex8+49T>Crs2266690Amino acid change
V270AGene involved in cell-cycle control
CDKN1ACyclin-dependent kinase inhibitor 1A6p21.2Ex2+98C>Ars1801270>0.1 prevalence(37)
S31RAmino acid change
Gene alterations in brain tumors
CDKN2ACyclin-dependent kinase inhibitor 2A9p21Ex3-16G>Ars3731249Amino acid change
A148TGene alternations in brain tumors
CHEK1CHK1 checkpoint homologue11q24-q24Ex13+76A>Grs506504Exonic region
I471VGene involved in cell-cycle control
CHEK2CHK2 checkpoint homologue22q12.1IVS9-200G>Ars2267130>0.1 prevalence
Gene involved in cell-cycle control
MDM2Mdm2, transformed 3T3 cell double minute 2, p53 binding protein12q14.3-q15Ex12+162A>Grs769412Exonic region(37)
Negative regulator of TP53
Gene alterations in brain tumors
PTENPhosphatase and tensin homologue10q23.31515 bp 3′ of STP C>Trs701848>0.1 prevalence(37)
3′ region often contains regulatory elements important for transcription and translation
Gene alterations in brain tumors
TP53Tumor protein p5317p13.1Ex4+119C>Grs1042522>0.1 prevalence(37)
P72RAmino acid change
Gene alterations in brain tumors

  • Abbreviation: NHL, non–Hodgkin's lymphoma.

  • ↵* Based on SNP500.