Article
A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy.
Cancer letters - 8 Jun 2005
Baudi Francesco, Fersini Giuseppina, Lavecchia Annamaria, Terracciano Rosa, Leone Francarlo, Quaresima Barbara, Faniello Maria C, De Paola Loredana, Doldo Patrizia, Cuda Giovanni, Costanzo Francesco, Venuta Salvatore
Abstract excerpt
Germline mutations within the mismatch repair (MMR) genes are generally found in colorectal cancer (CRC) patients with a positive family history for the presence of the neoplasia. Clinical standard criteria have been established to define hereditary-non-polyposis-colorectal cancer (HNPCC)-prone families. Interestingly, the number of MMR gene mutations found in kindreds not fulfilling these criteria is still...
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