title: Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer.
abstract: Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common of the well-defined colorectal cancer syndromes, accounting for at least 2% of the total colorectal cancer burden and carrying a greater than 80% lifetime risk of cancer. Significant reduction in cancer morbidity and mortality can be accomplished by appropriate clinical cancer screening of HNPCC patients with mutations in mismatch repair (MMR) genes. Thus, it is desirable to identify individuals who are mutation-positive. In individuals with cancer, mutation detection can be accomplished relatively efficiently by germline mutation analysis of individuals whose cancers show microsatellite instability (MSI). This study was designed to assess the feasibility of screening colorectal adenoma patients for HNPCC in the same manner. Among 378 adenoma patients, six (1.6%) had at least one MSI adenoma. Five out of the six patients (83%) had a germline MMR gene mutation. We conclude that MSI analysis is a useful method of prescreening colorectal adenoma patients for HNPCC.
authors.affiliation: Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: A
authors.initials: A
authors.lastname: Loukola
authors.forename: R
authors.initials: R
authors.lastname: Salovaara
authors.forename: P
authors.initials: P
authors.lastname: Kristo
authors.forename: A L
authors.initials: AL
authors.lastname: Moisio
authors.forename: H
authors.initials: H
authors.lastname: Kääriäinen
authors.forename: H
authors.initials: H
authors.lastname: Ahtola
authors.forename: M
authors.initials: M
authors.lastname: Eskelinen
authors.forename: N
authors.initials: N
authors.lastname: Härkönen
authors.forename: R
authors.initials: R
authors.lastname: Julkunen
authors.forename: E
authors.initials: E
authors.lastname: Kangas
authors.forename: S
authors.initials: S
authors.lastname: Ojala
authors.forename: J
authors.initials: J
authors.lastname: Tulikoura
authors.forename: E
authors.initials: E
authors.lastname: Valkamo
authors.forename: H
authors.initials: H
authors.lastname: Järvinen
authors.forename: J P
authors.initials: JP
authors.lastname: Mecklin
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
authors.forename: L A
authors.initials: LA
authors.lastname: Aaltonen
mesh_terms: D000236:Adenoma / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000368:Aged; D020137:Base Pair Mismatch; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004260:DNA Repair; D004273:DNA, Neoplasm / Q000032:analysis*; D005819:Genetic Markers; D018095:Germ-Line Mutation; D006801:Humans; D018895:Microsatellite Repeats; D008875:Middle Aged
chemical_list: D004273:DNA, Neoplasm; D005819:Genetic Markers