Hereditary nonpolyposis colorectal cancer: Identification of novel germline mutations in two kindreds not fulfilling the Amsterdam criteria

Autor:	Salvatore Venuta, Francesco Costanzo, Vito Barbieri, Cristina Grandinetti, E. V. Avvedimento, Barbara Quaresima, Francesco Baudi, Pierfrancesco Tassone, Serafino Conforti
Rok vydání:	1998
Předmět:	Genetics congenital hereditary and neonatal diseases and abnormalities Amsterdam criteria Mutation nutritional and metabolic diseases Biology MLH1 medicine.disease_cause digestive system diseases Stop codon Germline mutation MSH2 PMS2 medicine Missense mutation Genetics (clinical)
Zdroj:	Human Mutation. 12:433-433
ISSN:	1098-1004 1059-7794
DOI:	10.1002/(sici)1098-1004(1998)12:6<433::aid-humu13>3.0.co;2-j
Popis:	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.
Databáze:	OpenAIRE
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