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Journal of Clinical Laboratory Analysis logoLink to Journal of Clinical Laboratory Analysis
. 2007 Nov 16;21(6):372–374. doi: 10.1002/jcla.20198

Somatic mutation of MutYH in Tunisian patients with sporadic colorectal cancer

Karim Bougatef 1,, Raja Marrakchi 1, Nadia Kourda 2, Yannick Blondeau Lahely 3, Sarra Baltagi Ben Jileni 2, Houssein K El Khil 1, Florent Soubrier 3,, Amel Ben Ammar Elgaaied 1,
PMCID: PMC6649000  PMID: 18022921

Abstract

The MutYH gene is an adenine‐specific DNA glycosylase that prevents G/T transversions. Germline mutation in this gene causes MYH‐associated polyposis (MAP) that predispose to hereditary colorectal cancer (CRC). This study describes for the first time the association of the MutYH mutation with sporadic CRC. From the 48 Tunisian sporadic CRC cases analyzed, two patients showed somatic mutation of the MutYH gene. In addition, the two hotspot germline mutations MutYH Y165C and G382D seem to be infrequent in sporadic CRC. J. Clin. Lab. Anal. 21:372–374, 2007. © 2007 Wiley‐Liss, Inc.

Keywords: BER, MYH‐associated polyposis, APC, FAP, transversion

REFERENCES

  • 1. McGoldrick JP, Yeh YC, Solomon M, Essigmann JM, Lu AL. Characterizations of a mammalian homolog of the Escherichia coli MutYH mismatch repair protein. Mol Cell Biol 1995;15:989–996. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 2. Takao M, Zhang QM, Yonei S, Yasui A. Differential subcellular localization of human MutY homolog (hMYH) and the functional activity of adenine:8‐oxoguanine DNA glycosylase. Nucleic Acids Res 1999;27:3638–3644. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 3. Al‐Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:C → T:A mutations in colorectal tumors. Nat Genet 2002;30:227–232. [DOI] [PubMed] [Google Scholar]
  • 4. Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ‐line mutations in MYH. N Engl J Med 2003;348:791–799. [DOI] [PubMed] [Google Scholar]
  • 5. Russell AM, Zhang J, Luz J, et al. Prevalence of MYH germline mutations in Swiss APC mutation‐negative polyposis patients. Int J Cancer 2005;118:1937–1940. [DOI] [PubMed] [Google Scholar]
  • 6. Cottrell S, Bicknell D, Kaklamanis L, Bodmer WF. Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet 1992;340:626–630. [DOI] [PubMed] [Google Scholar]
  • 7. Soussi T. UMD APC Mutation Database. 2003. Available at http://www.umd.necker.fr. Last accessed 1 August 2007.
  • 8. Halford SE, Rowan AJ, Lipton L, et al. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol 2003;162:1545–1548. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 9. Halford SER, Rowan AJ, Lipton L, et al. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol 2003;162:1545–1548. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 10. Isidro G, Laranjeira F, Pires A, et al. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. Hum Mutat 2004;24:353–354. [DOI] [PubMed] [Google Scholar]
  • 11. Lefevre JH, Rodrigue CM, Mourra N, et al. Implication of MYH in colorectal polyposis. Ann Surg 2006;244:874–880. [DOI] [PMC free article] [PubMed] [Google Scholar]
  • 12. Sampson JR, Dolwani S, Jones S, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH . Lancet 2003;362:39–41. [DOI] [PubMed] [Google Scholar]
  • 13. Ward RL, Turner J, Williams R, et al. Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified. J Pathol 2005;207:377–384. [DOI] [PubMed] [Google Scholar]
  • 14. Miyaki M, Iijima T, Yamaguchi T, et al. Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. Mutat Res 2005;578:430–433. [DOI] [PubMed] [Google Scholar]

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