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Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer.
Genes Chromosomes Cancer 2000; 27(1):17-25GC

Abstract

Germline alterations in human DNA mismatch repair genes are associated with hereditary nonpolyposis colorectal cancer (HNPCC). Mutation analysis of the genes reveals carriers with a high risk of colorectal cancer, who will benefit from surveillance. We wanted to find the best predictive parameter of a germline mutation in those genes among patients with familial colorectal cancer. Affected members from a total of 83 unrelated colorectal cancer families previously analyzed for mutations in MSH2 and MLH1 were used to evaluate different parameters' ability to predict a germline mutation. We studied various clinical criteria such as family structure, age of onset, and prevalence of endometrial cancer, as well as microsatellite instability in the tumors from the families. In total, 124 tumors from 59 of the families were tested for microsatellite instability (MSI) using PCR-based mono- and dinucleotide markers to establish whether the families could be scored as MSI-positive or -negative. The finding of MSI-positive tumors in a family was the best predictor of a germline mutation, and was found in 73% of the MSI-positive, but in less than 3% of the MSI-negative families (P < 0.0001). In contrast, MSI in unselected colorectal cancer is not as useful, since most of these MSI-positive tumors are sporadic. The finding of microsatellite instability in colorectal tumors seems efficient enough even to select those with germline mutations among families fulfilling HNPCC Amsterdam criteria, once used in identification of the DNA mismatch repair genes. Genes Chromosomes Cancer 27:17-25, 2000.

Authors+Show Affiliations

Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.No 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

10564582

Citation

Liu, T, et al. "Microsatellite Instability as a Predictor of a Mutation in a DNA Mismatch Repair Gene in Familial Colorectal Cancer." Genes, Chromosomes & Cancer, vol. 27, no. 1, 2000, pp. 17-25.
Liu T, Wahlberg S, Burek E, et al. Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer. Genes Chromosomes Cancer. 2000;27(1):17-25.
Liu, T., Wahlberg, S., Burek, E., Lindblom, P., Rubio, C., & Lindblom, A. (2000). Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer. Genes, Chromosomes & Cancer, 27(1), pp. 17-25.
Liu T, et al. Microsatellite Instability as a Predictor of a Mutation in a DNA Mismatch Repair Gene in Familial Colorectal Cancer. Genes Chromosomes Cancer. 2000;27(1):17-25. PubMed PMID: 10564582.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer. AU - Liu,T, AU - Wahlberg,S, AU - Burek,E, AU - Lindblom,P, AU - Rubio,C, AU - Lindblom,A, PY - 1999/11/24/pubmed PY - 1999/11/24/medline PY - 1999/11/24/entrez SP - 17 EP - 25 JF - Genes, chromosomes & cancer JO - Genes Chromosomes Cancer VL - 27 IS - 1 N2 - Germline alterations in human DNA mismatch repair genes are associated with hereditary nonpolyposis colorectal cancer (HNPCC). Mutation analysis of the genes reveals carriers with a high risk of colorectal cancer, who will benefit from surveillance. We wanted to find the best predictive parameter of a germline mutation in those genes among patients with familial colorectal cancer. Affected members from a total of 83 unrelated colorectal cancer families previously analyzed for mutations in MSH2 and MLH1 were used to evaluate different parameters' ability to predict a germline mutation. We studied various clinical criteria such as family structure, age of onset, and prevalence of endometrial cancer, as well as microsatellite instability in the tumors from the families. In total, 124 tumors from 59 of the families were tested for microsatellite instability (MSI) using PCR-based mono- and dinucleotide markers to establish whether the families could be scored as MSI-positive or -negative. The finding of MSI-positive tumors in a family was the best predictor of a germline mutation, and was found in 73% of the MSI-positive, but in less than 3% of the MSI-negative families (P < 0.0001). In contrast, MSI in unselected colorectal cancer is not as useful, since most of these MSI-positive tumors are sporadic. The finding of microsatellite instability in colorectal tumors seems efficient enough even to select those with germline mutations among families fulfilling HNPCC Amsterdam criteria, once used in identification of the DNA mismatch repair genes. Genes Chromosomes Cancer 27:17-25, 2000. SN - 1045-2257 UR - https://www.unboundmedicine.com/medline/citation/10564582/Microsatellite_instability_as_a_predictor_of_a_mutation_in_a_DNA_mismatch_repair_gene_in_familial_colorectal_cancer_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&amp;sid=nlm:pubmed&amp;issn=1045-2257&amp;date=2000&amp;volume=27&amp;issue=1&amp;spage=17 DB - PRIME DP - Unbound Medicine ER -