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International Journal of Colorectal Disease

Published in:

01-01-2004 | Original Article

DNA variants in the ATM gene are not associated with sporadic rectal cancer in a Norwegian population-based study

Authors: Annette Torgunrud Kristensen, Jens Bjørheim, Johan Wiig, Karl E. Giercksky, Per O. Ekstrøm

Published in: International Journal of Colorectal Disease | Issue 1/2004

Abstract

Background and aims

A 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.

Methods

We 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.

Results

More 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.

Conclusion

No 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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Title: DNA variants in the ATM gene are not associated with sporadic rectal cancer in a Norwegian population-based study
Authors: Annette Torgunrud Kristensen
Jens Bjørheim
Johan Wiig
Karl E. Giercksky
Per O. Ekstrøm
Publication date: 01-01-2004
Publisher: Springer-Verlag
Published in: International Journal of Colorectal Disease / Issue 1/2004
Print ISSN: 0179-1958
Electronic ISSN: 1432-1262
DOI: https://doi.org/10.1007/s00384-003-0519-7

At a glance: The STEP trials

Springer Medicine

DNA variants in the ATM gene are not associated with sporadic rectal cancer in a Norwegian population-based study

Abstract

Background and aims

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background and aims

Methods

Results

Conclusion

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