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Approaches to identification of HNPCC suspected patients in Slovak population.
Neoplasma. 2000; 47(4):219-26.N

Abstract

Patients with hereditary non-polyposis colorectal cancer (HNPCC) have a DNA mismatch repair defect (MMR) in their tumor tissue that results in instability of microsatellite DNA sequences (MSI). Thus, MSI analysis may effectively indicate this form of cancer that should be then proved by analysis of germline mutations in MMR genes. The aim of this study was to identify HNPCC suspected patients in the Slovak population by investigating microsatellite instability in colorectal tumor tissues. MSI was studied at 5-11 loci in matched tumor and normal DNA using radioactively labeled PCR products separated on sequencing gels. High microsatellite instability (MSI-H) was present only in patients younger than 50 years, in 100% of patients having two affected relatives by colorectal cancer and in 67% of patients with only one affected relative. In both groups of patients colorectal cancer was present in two successive generations. No MSI-H was found in the group of patients older than 50 years, even if they had positive family history for colorectal cancer. Among all markers used, the BAT26 mononucleotide repeat (100%), DI0S197 and D13S175 (62.5%) dinucleotide repeats were the most frequently altered in the tumor tissues. Retrospective analysis revealed that some of the patients having MSI-H tumors have had clinicopathological characteristics frequently reported to HNPCC. The family members of those patients with MSI-H are enrolled in preventive health care program until mutational analyses will enable to select carriers from non-carriers of mutated MMR genes.

Authors+Show Affiliations

Cancer Research Institute, Slovak Academy of Sciences, Bratislava. exonfri@savba.skNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11043825

Citation

Fridrichová, I, et al. "Approaches to Identification of HNPCC Suspected Patients in Slovak Population." Neoplasma, vol. 47, no. 4, 2000, pp. 219-26.
Fridrichová I, Ilencíková D, Friedl W, et al. Approaches to identification of HNPCC suspected patients in Slovak population. Neoplasma. 2000;47(4):219-26.
Fridrichová, I., Ilencíková, D., Friedl, W., Hlavcák, P., Skorvaga, M., Krizan, P., Pálaj, J., Pirsel, M., Farkasová, E., & Bartosová, Z. (2000). Approaches to identification of HNPCC suspected patients in Slovak population. Neoplasma, 47(4), 219-26.
Fridrichová I, et al. Approaches to Identification of HNPCC Suspected Patients in Slovak Population. Neoplasma. 2000;47(4):219-26. PubMed PMID: 11043825.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Approaches to identification of HNPCC suspected patients in Slovak population. AU - Fridrichová,I, AU - Ilencíková,D, AU - Friedl,W, AU - Hlavcák,P, AU - Skorvaga,M, AU - Krizan,P, AU - Pálaj,J, AU - Pirsel,M, AU - Farkasová,E, AU - Bartosová,Z, PY - 2000/10/24/pubmed PY - 2001/2/28/medline PY - 2000/10/24/entrez SP - 219 EP - 26 JF - Neoplasma JO - Neoplasma VL - 47 IS - 4 N2 - Patients with hereditary non-polyposis colorectal cancer (HNPCC) have a DNA mismatch repair defect (MMR) in their tumor tissue that results in instability of microsatellite DNA sequences (MSI). Thus, MSI analysis may effectively indicate this form of cancer that should be then proved by analysis of germline mutations in MMR genes. The aim of this study was to identify HNPCC suspected patients in the Slovak population by investigating microsatellite instability in colorectal tumor tissues. MSI was studied at 5-11 loci in matched tumor and normal DNA using radioactively labeled PCR products separated on sequencing gels. High microsatellite instability (MSI-H) was present only in patients younger than 50 years, in 100% of patients having two affected relatives by colorectal cancer and in 67% of patients with only one affected relative. In both groups of patients colorectal cancer was present in two successive generations. No MSI-H was found in the group of patients older than 50 years, even if they had positive family history for colorectal cancer. Among all markers used, the BAT26 mononucleotide repeat (100%), DI0S197 and D13S175 (62.5%) dinucleotide repeats were the most frequently altered in the tumor tissues. Retrospective analysis revealed that some of the patients having MSI-H tumors have had clinicopathological characteristics frequently reported to HNPCC. The family members of those patients with MSI-H are enrolled in preventive health care program until mutational analyses will enable to select carriers from non-carriers of mutated MMR genes. SN - 0028-2685 UR - https://www.unboundmedicine.com/medline/citation/11043825/Approaches_to_identification_of_HNPCC_suspected_patients_in_Slovak_population_ DB - PRIME DP - Unbound Medicine ER -