International Journal of Colorectal Disease

, Volume 19, Issue 1, pp 49–54 | Cite as

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

  • Annette Torgunrud Kristensen
  • Jens Bjørheim
  • Johan Wiig
  • Karl E. Giercksky
  • Per O. Ekstrøm
Original Article


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.


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.


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.


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.


ATM gene Single-nucleotide polymorphism Sporadic rectal cancer Cycling temperature capillary electrophoresis Denaturing gradient gel electrophoresis 



This work received financial support by the Torsteds Legacy and the Norwegian Cancer Society. The authors gratefully acknowledge Karen-Marie Heintz for her technical assistance on the MegaBace 1000 and Carrie J. Markowski-Grimsrud for comments on the manuscript.


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Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • Annette Torgunrud Kristensen
    • 1
  • Jens Bjørheim
    • 2
  • Johan Wiig
    • 1
  • Karl E. Giercksky
    • 1
  • Per O. Ekstrøm
    • 1
  1. 1.Departments of Surgical Oncology and Immunology, Institute for Cancer ResearchNorwegian Radium Hospital, MontebelloOsloNorway
  2. 2.Section for Immunotherapy, Institute for Cancer ResearchNorwegian Radium Hospital, MontebelloOsloNorway

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