ArticleInternational journal of colorectal disease2004
DNA variants in the ATM gene are not associated with sporadic rectal cancer in a Norwegian population-based study.
Article in International journal of colorectal disease, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 3 of them syntheses that pooled it.
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Who cites it
5 citing papers in PubMed, 3 syntheses or guidelines pooled it, 14 citations in OpenAlex.
- Polymorphism rs1801516 (G > A) in theThe Journal of international medical research · 2020Pooled it
- Association between ATM rs1801516 polymorphism and cancer susceptibility: a meta-analysis involving 12,879 cases and 18,054 controls.BMC cancer · 2018Pooled it
- Pooled it
- Automated amplicon design suitable for analysis of DNA variants by melting techniques.BMC research notes · 2015Article
- Analysis of mutational spectra by denaturing capillary electrophoresis.Nature protocols · 2008Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
aimsA large number of DNA single-nucleotide polymorphisms (SNPs) have been discovered following the Human Genome Project. Several projects have been launched to find associations between SNPs and various disease cohorts. This study examined the possible association between the reported SNPs and sporadic rectal cancer. It has been proposed that SNPs in the ataxi-telangiectasia mutated (ATM) gene modulate the penetrance of some cancers. The investigated target sequence harbors three polymorphisms (IVS38-8 T/C in intron 38, 5557 G/A and 5558 A/T in exon 39), resulting in eight possible microhaplotypes at the DNA level. Furthermore, the two exonic SNPs are sited next to each other, allowing four possible amino acids in the same codon.
methodsWe report on a new method analyzing SNPs and microhaplotypes based on theoretical thermodynamics and migration of variant fragments by cycling temperature capillary electrophoresis. Fluorophore-labeled PCR products were analyzed without any post-PCR steps on a standard 96 capillary-sequencing instrument under denaturing conditions.
resultsMore than 7000 alleles were microhaplotyped based on peak migration patterns of individual samples and sequencing results. The ATM polymorphisms and microhaplotypes examined did not significantly differ between sporadic rectal cancer and normal population.
conclusionNo associations were found between the IVS38-8 T/C, 5557 G/A and 5558 A/T polymorphisms and microhaplotypes in the ATM gene with respect to sporadic rectal cancer.
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