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Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC).
Hum Mutat. 2000 Jul; 16(1):91-2.HM

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is a common hereditary syndrome characterized by the high incidence and early onset of colorectal cancer. The majority of the HNPCC families carry germline mutations in either the MSH2 or the MLH1 mismatch repair gene. A 46 year-old female patient whose family history fulfilled the Amsterdam criteria for HNPCC was diagnosed with undifferentiated adenocarcinoma of the transverse colon. Recognizing the Lynch 2 syndrome (the existance of multiple HNPCC related cancers in a pedigree), we used polymerase chain reaction followed by direct sequencing to screen the coding regions of both the MSH2 and the MLH1 genes for germline mutations in DNA from the patient. We detected a novel germline mutation (300-305delAGTTGA) in exon 2 of human MSH2. We noted microsatellite instability in four microsatellite loci. Immunohistochemistry showed a lack of expression of the MSH2 gene product in the tumor, suggesting that the mutation is a disease-causing mutation.

Authors+Show Affiliations

Medizinische Poliklinik Innenstadt, Department of Gastroenterology. Muenchen, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10874318

Citation

Glasl, S, et al. "Novel Germline Mutation (300-305delAGTTGA) in the Human MSH2 Gene in Hereditary Non-polyposis Colorectal Cancer (HNPCC)." Human Mutation, vol. 16, no. 1, 2000, pp. 91-2.
Glasl S, Papatheodorou L, Baretton G, et al. Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC). Hum Mutat. 2000;16(1):91-2.
Glasl, S., Papatheodorou, L., Baretton, G., Jung, C., & Gross, M. (2000). Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC). Human Mutation, 16(1), 91-2.
Glasl S, et al. Novel Germline Mutation (300-305delAGTTGA) in the Human MSH2 Gene in Hereditary Non-polyposis Colorectal Cancer (HNPCC). Hum Mutat. 2000;16(1):91-2. PubMed PMID: 10874318.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC). AU - Glasl,S, AU - Papatheodorou,L, AU - Baretton,G, AU - Jung,C, AU - Gross,M, PY - 2000/6/30/pubmed PY - 2000/9/2/medline PY - 2000/6/30/entrez SP - 91 EP - 2 JF - Human mutation JO - Hum. Mutat. VL - 16 IS - 1 N2 - Hereditary non-polyposis colorectal cancer (HNPCC) is a common hereditary syndrome characterized by the high incidence and early onset of colorectal cancer. The majority of the HNPCC families carry germline mutations in either the MSH2 or the MLH1 mismatch repair gene. A 46 year-old female patient whose family history fulfilled the Amsterdam criteria for HNPCC was diagnosed with undifferentiated adenocarcinoma of the transverse colon. Recognizing the Lynch 2 syndrome (the existance of multiple HNPCC related cancers in a pedigree), we used polymerase chain reaction followed by direct sequencing to screen the coding regions of both the MSH2 and the MLH1 genes for germline mutations in DNA from the patient. We detected a novel germline mutation (300-305delAGTTGA) in exon 2 of human MSH2. We noted microsatellite instability in four microsatellite loci. Immunohistochemistry showed a lack of expression of the MSH2 gene product in the tumor, suggesting that the mutation is a disease-causing mutation. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/10874318/Novel_germline_mutation__300_305delAGTTGA__in_the_human_MSH2_gene_in_hereditary_non_polyposis_colorectal_cancer__HNPCC__ L2 - https://doi.org/10.1002/1098-1004(200007)16:1<91::AID-HUMU22>3.0.CO;2-A DB - PRIME DP - Unbound Medicine ER -