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Familial Cancer

, Volume 11, Issue 1, pp 13–17 | Cite as

Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients

  • Somayeh Shahmoradi
  • Ali Bidmeshkipour
  • Ahmad Salamian
  • Mohammad Hasan Emami
  • Zahra Kazemi
  • Mansoor SalehiEmail author
Article

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common forms of hereditary colorectal cancer. It is an autosomal dominant disorder resulting from germline mutations in DNA mismatch repair genes. In this study, we screened hMLH1 gene in a group of Iranian HNPCC patients using polymerase chain reaction-single strand conformational polymorphism and direct sequencing methods. Here we report two novel frameshift mutations in this gene in our studied population. One of them results from a deletion of “T” at codon 36, exon 1 which causes premature stop codon and a truncated protein. The other results from a deletion of “T” at codon 753, exon 19 causing a delayed stop codon. There are a variety of the reported novel mutations in hMLH1 gene studies. Identification of these mutations is necessary in different populations and can help the management of colorectal cancer in these populations by screening, by prevention strategies, and by following up the suspected HNPCC families.

Keywords

Colorectal cancer Frameshift mutation Germline mutation Hereditary non-polyposis colorectal cancer hMLH1 Mismatch repair genes 

Abbreviations

APS

Ammonium persulphate

CRC

Colorectal cancer

HNPCC

Hereditary non-polyposis colorectal cancer

MMR

Mismatch repair

PCR

Polymerase chain reaction

SSCP

Single strand conformational polymorphism

TBE

Tris-borate-EDTA

TEMED

N,N,N′,N′-tetramethylethylenediamine

Notes

Acknowledgments

This work was funded by the Deputy for Research, Isfahan University of Medical Sciences. We also would like to thank Poursina Hakim Research Center for their help and support.

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Copyright information

© Springer Science+Business Media B.V. 2011

Authors and Affiliations

  • Somayeh Shahmoradi
    • 1
  • Ali Bidmeshkipour
    • 1
  • Ahmad Salamian
    • 2
  • Mohammad Hasan Emami
    • 3
    • 4
  • Zahra Kazemi
    • 3
  • Mansoor Salehi
    • 2
    • 5
    Email author
  1. 1.Department of BiologyFaculty of Sciences, Razi UniversityKermanshahIran
  2. 2.Department of GeneticsMedical School, Isfahan University of Medical SciencesIsfahanIran
  3. 3.Poursina Hakim Research CenterIsfahanIran
  4. 4.Department of Internal MedicineMedical School, Isfahan University of Medical SciencesIsfahanIran
  5. 5.Medical Genetics Center of GenomeIsfahanIran

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