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Age at diagnosis of cancer as predictor of mutation occurrence in families suspected of HNPCC

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Kurzawski G., Debniak D. T., Debniak T., Kladny K. J., Kladny J., Lubinski L. J., Lubinski J.

Journal of Applied Genetics

2001

vol. 42

issue 3

359-366

Analysis of significance of age at cancer diagnosis as a factor allowing identification of a subgroup of patients with a high frequency of hMSH2 and hMLH1 mutations among families that fulfil suspected HNPCC criteria was performed. DNA from thirty-one unrelated patients affected by colorectal cancer from families matching the above criteria were studied by direct sequencing for occurrence of hMSH2 and hMLH1 gene mutations. Seven unequivocal constitutional mutations were detected: five in the hMLH1 gene and two in the hMSH2 gene. Additionally, one hMLH1 alteration of unknown significance was found. All seven mutations were found in a subgroup of 19 patients with cancer diagnosed before the age of 50 years. In a subgroup of 12 patients with cancer diagnosed at an older age only one case with hMLH1 alteration of unknown significance was detected. Our results indicate that early age at cancer diagnosis seems to be a crucial pedigree factor in discrimination of patients with hMSH2 or hMLH1 mutations among families suspected of HNPCC and matching criteria I of ICG-HNPCC.

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1 Journal of Applied Genetics

1 2001

1 Debniak D. T.

1 Debniak T.

1 Kladny J.

1 Kladny K. J.

1 Kurzawski G.

1 Lubinski J.

1 Lubinski L. J.

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Age at diagnosis of cancer as predictor of mutation occurrence in families suspected of HNPCC