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BAT-26 identifies sporadic colorectal cancers with mutator phenotype: a correlative study with clinico-pathological features and mutations in mismatch repair genes.
J Pathol. 1999 Jul; 188(3):252-7.JP

Abstract

Microsatellite instability (MSI) is present in most colorectal cancers (CRC) associated with hereditary nonpolyposis colorectal cancer (HNPCC). MSI testing in so-called sporadic forms of CRC may become a useful tool in identifying new HNPCC kindred. The aim of this study was to analyse the utility of BAT-26 as a marker to identify CRCs with MSI and to investigate whether sporadic CRCs with MSI have a phenotypic expression similar to HNPCC cases. MSI was detected using two methods, an association of 7 poly(CA) repeats and a poly(A) repeat alone, BAT-26, in a series of 62 patients with apparently sporadic forms of CRC. Germ-line and somatic mutations in the hMSH2, hMLH1, and hMSH6 genes were analysed in patients with MSI+ tumours. Patients with MSI+ at poly(CA) loci and at BAT-26 were younger (p=0.024 and p=0.002), had tumours more frequently right sided (p=0.017 and p=0.0001) and more often mucinous (p=0.037 and p=0.005, respectively) than patients with MSI negative tumours. Mutation analysis allowed the identification of two patients carrying germ-line mutations in the hMLH1 gene (both were BAT-26+) and two other patients who had somatic mutation in the hMSH2 and in hMLH1 genes. In conclusion, the detection of MSI using poly(CA) repeats or BAT-26 alone allowed the identification of a subset of patients with clinico-pathological characteristics similar to those associated to HNPCC. BAT-26 has the advantage of being a simple and less expensive method that might be used as a screening procedure before mutation analysis.

Authors+Show Affiliations

Serviço de Gastrenterologia, Instituto Português de Oncologia Francisco Gentil, 1093 Lisboa Codex, Portugal. mcravo.cplancha@mail.telepac.ptNo 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

10419591

Citation

Cravo, M, et al. "BAT-26 Identifies Sporadic Colorectal Cancers With Mutator Phenotype: a Correlative Study With Clinico-pathological Features and Mutations in Mismatch Repair Genes." The Journal of Pathology, vol. 188, no. 3, 1999, pp. 252-7.
Cravo M, Lage P, Albuquerque C, et al. BAT-26 identifies sporadic colorectal cancers with mutator phenotype: a correlative study with clinico-pathological features and mutations in mismatch repair genes. J Pathol. 1999;188(3):252-7.
Cravo, M., Lage, P., Albuquerque, C., Chaves, P., Claro, I., Gomes, T., Gaspar, C., Fidalgo, P., Soares, J., & Nobre-Leitão, C. (1999). BAT-26 identifies sporadic colorectal cancers with mutator phenotype: a correlative study with clinico-pathological features and mutations in mismatch repair genes. The Journal of Pathology, 188(3), 252-7.
Cravo M, et al. BAT-26 Identifies Sporadic Colorectal Cancers With Mutator Phenotype: a Correlative Study With Clinico-pathological Features and Mutations in Mismatch Repair Genes. J Pathol. 1999;188(3):252-7. PubMed PMID: 10419591.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - BAT-26 identifies sporadic colorectal cancers with mutator phenotype: a correlative study with clinico-pathological features and mutations in mismatch repair genes. AU - Cravo,M, AU - Lage,P, AU - Albuquerque,C, AU - Chaves,P, AU - Claro,I, AU - Gomes,T, AU - Gaspar,C, AU - Fidalgo,P, AU - Soares,J, AU - Nobre-Leitão,C, PY - 1999/7/27/pubmed PY - 2000/3/4/medline PY - 1999/7/27/entrez SP - 252 EP - 7 JF - The Journal of pathology JO - J. Pathol. VL - 188 IS - 3 N2 - Microsatellite instability (MSI) is present in most colorectal cancers (CRC) associated with hereditary nonpolyposis colorectal cancer (HNPCC). MSI testing in so-called sporadic forms of CRC may become a useful tool in identifying new HNPCC kindred. The aim of this study was to analyse the utility of BAT-26 as a marker to identify CRCs with MSI and to investigate whether sporadic CRCs with MSI have a phenotypic expression similar to HNPCC cases. MSI was detected using two methods, an association of 7 poly(CA) repeats and a poly(A) repeat alone, BAT-26, in a series of 62 patients with apparently sporadic forms of CRC. Germ-line and somatic mutations in the hMSH2, hMLH1, and hMSH6 genes were analysed in patients with MSI+ tumours. Patients with MSI+ at poly(CA) loci and at BAT-26 were younger (p=0.024 and p=0.002), had tumours more frequently right sided (p=0.017 and p=0.0001) and more often mucinous (p=0.037 and p=0.005, respectively) than patients with MSI negative tumours. Mutation analysis allowed the identification of two patients carrying germ-line mutations in the hMLH1 gene (both were BAT-26+) and two other patients who had somatic mutation in the hMSH2 and in hMLH1 genes. In conclusion, the detection of MSI using poly(CA) repeats or BAT-26 alone allowed the identification of a subset of patients with clinico-pathological characteristics similar to those associated to HNPCC. BAT-26 has the advantage of being a simple and less expensive method that might be used as a screening procedure before mutation analysis. SN - 0022-3417 UR - https://www.unboundmedicine.com/medline/citation/10419591/BAT_26_identifies_sporadic_colorectal_cancers_with_mutator_phenotype:_a_correlative_study_with_clinico_pathological_features_and_mutations_in_mismatch_repair_genes_ L2 - https://doi.org/10.1002/(SICI)1096-9896(199907)188:3<252::AID-PATH354>3.0.CO;2-3 DB - PRIME DP - Unbound Medicine ER -