Difficulties in recognizing families with Hereditary Non-polyposis Colorectal Carcinoma. Presentation of 4 families with proven mutation

M. Tanyi, J. Olasz, E. Kámory, O. Csuka, J. L. Tanyi, Z. Ress, L. Damjanovich

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Introduction: Hereditary Non-polyposis Colorectal Carcinoma is the most frequent genetic disease leading to colon and other malignancies. Recognizing the condition requires extensive family history going back several generations focusing particularly on the types of tumors occurring in the family at different age groups. Methods: In families who met the Amsterdam and Bethesda Criteria, the removed tumor tissue was first examined by immunohistochemistry and microsatellite instability analysis. Subsequently DNA sequencing was performed to detect an underlying Mismatch Repair Gene mutation and multiple ligation dependent probe amplification was applied for recognizing large deletions in Mismatch Repair Genes. Results: In the investigated families 3 pathogen mutations, 1 large deletion and 2 cases of polymorphism were found. There is considerable difference between the families in terms of the types of malignancies and the age in which those appeared. Conclusion: Recognizing families with Hereditary Non-polyposis Colorectal Carcinoma presents great difficulties because of the variety of phenotypes in presentation. Special attention should be paid to small families and those who present with cancer of other than colon origin. Practicing physicians should be made aware of the fact that this disease may have atypical presentations. Follow up of families who have already been screened may be difficult for social, economical or religious reasons.

Original languageEnglish
Pages (from-to)1322-1327
Number of pages6
JournalEuropean Journal of Surgical Oncology
Volume34
Issue number12
DOIs
Publication statusPublished - Dec 2008

Fingerprint

Colorectal Neoplasms
Mutation
DNA Mismatch Repair
Neoplasms
Microsatellite Instability
Inborn Genetic Diseases
DNA Sequence Analysis
Colonic Neoplasms
Genes
Ligation
Colon
Age Groups
Immunohistochemistry
Physicians
Phenotype

Keywords

  • Bethesda criteria
  • Hereditary non-polyposis colon cancer
  • hMLH1
  • hMSH2
  • Phenotypical variability

ASJC Scopus subject areas

  • Oncology
  • Surgery

Cite this

Difficulties in recognizing families with Hereditary Non-polyposis Colorectal Carcinoma. Presentation of 4 families with proven mutation. / Tanyi, M.; Olasz, J.; Kámory, E.; Csuka, O.; Tanyi, J. L.; Ress, Z.; Damjanovich, L.

In: European Journal of Surgical Oncology, Vol. 34, No. 12, 12.2008, p. 1322-1327.

Research output: Contribution to journalArticle

Tanyi, M. ; Olasz, J. ; Kámory, E. ; Csuka, O. ; Tanyi, J. L. ; Ress, Z. ; Damjanovich, L. / Difficulties in recognizing families with Hereditary Non-polyposis Colorectal Carcinoma. Presentation of 4 families with proven mutation. In: European Journal of Surgical Oncology. 2008 ; Vol. 34, No. 12. pp. 1322-1327.
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