title: Hereditary nonpolyposis coloretal cancer: identification of novel germline mutations in two kindreds not fulfulling the Amsterdam criteria. Mutations in brief no. 203. Online.
abstract: Hereditary nonpolyposis colon cancer results from heritable defects in the MLH1, MSH2, PMS1 and PMS2 genes, which encode proteins involved in the mismatch repair process. In this work we report the identification of two novel germline mutations in the MLH1 gene from two unrelated HNPCC families. The two affected families do not fulfill the Amsterdam criteria. In family 1 we found a missense S93G mutation, which lies in a MLH1 domain critical for its MMR functions. In family 2 we found a two nucleotide insertion (AG) in position 523 from the AUG which determines an early stop codon at position 606 (codon 203). In both families the mutant alleles cosegregate with the cancer phenotype.
authors.affiliation: Dipartimento di Medicina Sperimentale e Clinica, Università degli Studi di Cantanzaro "Magna Graecia". via T. Campanella 115, 88100 Catanzaro, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Quaresima
authors.forename: C
authors.initials: C
authors.lastname: Grandinetti
authors.forename: F
authors.initials: F
authors.lastname: Baudi
authors.forename: P
authors.initials: P
authors.lastname: Tassone
authors.forename: V
authors.initials: V
authors.lastname: Barbieri
authors.forename: S
authors.initials: S
authors.lastname: Conforti
authors.forename: E V
authors.initials: EV
authors.lastname: Avvedimento
authors.forename: F
authors.initials: F
authors.lastname: Costanzo
authors.forename: S
authors.initials: S
authors.lastname: Venuta
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D020137:Base Pair Mismatch; D002352:Carrier Proteins; D018388:Codon, Terminator / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D000070957:MutL Protein Homolog 1; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D018388:Codon, Terminator; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1