| Geno
|
Mag
|
Summary
|
| (A;A)
|
0.1
|
normal (lower risk of glioma)
|
| (A;G)
|
3
|
6x increased risk of glioma of IDH1/IDH2 subtype
|
| (G;G)
|
3
|
6x increased risk of glioma of IDH1/IDH2 subtype
|
rs55705857 is a SNP located in a relatively gene-poor area of chromosomal region 8q24.21, near other SNPs that have been associated with certain cancers (prostate and ovarian).
A study [PMID 22922872
] by UCSF and Mayo Clinic researchers of over 1,600 glioblastoma patients concluded that carriers of a rs55705857(G) allele are at 5 - 6 fold higher risk for developing a glioma disease subtype categorized by harboring IDH1 or IDH2 (somatic) mutations (for example, with oligodendrogliomas, the odds ratio was 6.3, CI 4.6–8.8, p = 2.2 × 10e−28). These risk factors are among the highest ever reported for cancer-associated SNPs found in a SNP survey; nonetheless, keep in mind that glioblastomas are quite rare, with on average 2 - 3 people per 100,000 diagnosed per year, even with an allele frequency for rs55705857(G) of between 2 - 8%.
See also: http://www.genengnews.com/gen-news-highlights/gene-variant-raises-brain-tumor-risk/81247234/
[PMID 23361564] Inherited variant on chromosome 11q23 increases susceptibility to IDH-mutated but not IDH-normal gliomas regardless of grade or histology
[PMID 23399484] Deciphering the 8q24.21 association for glioma
[PMID 23733245] Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis.
[PMID 25165198] Mutation-based molecular glioma classification: prevalence and association with germline risk snps
[PMID 25165335] Beneficial outcomes after pcv plus rt in oligodendroglial tumors are associated with detection or risk of an idh mutation
[PMID 27282637] IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation.
[PMID 30152087] Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.
] by UCSF and Mayo Clinic researchers of over 1,600 glioblastoma patients concluded that carriers of a rs55705857(G) allele are at 5 - 6 fold higher risk for developing a glioma disease subtype categorized by harboring IDH1 or IDH2 (somatic) mutations (for example, with oligodendrogliomas, the odds ratio was 6.3, CI 4.6–8.8, p = 2.2 × 10e−28). These risk factors are among the highest ever reported for cancer-associated SNPs found in a SNP survey; nonetheless, keep in mind that glioblastomas are quite rare, with on average 2 - 3 people per 100,000 diagnosed per year, even with an allele frequency for rs55705857(G) of between 2 - 8%.
