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2001 | 42 | 3 | 359-366

Article title

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

Title variants

Languages of publication

EN

Abstracts

EN
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.

Discipline

Year

Volume

42

Issue

3

Pages

359-366

Physical description

Contributors

References

Document Type

ARTICLE

Publication order reference

G. Kurzawski, Department of Genetics and Pathology, Pomeranian University of Medicine, ul. Polabska 4, 70-115 Szczecin, Poland, e-mail: gkurz@sci.pam.szczecin.pl

Identifiers

YADDA identifier

bwmeta1.element.element-from-psjc-77dd7a79-35cc-3e1a-b8ae-f7842a535557
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