International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
Head of Department of Genetics and Pathology: prof. zw. dr hab. med. Jan Lubiński
1) higher risk for colorectal cancer (~70% for men and ~30% for female), endometrial cancer (~70%) and also for ovarian, upper urinary tract, stomach and breast cancer (25);
2) higher incidence of extracolonic cancers, when compare with HNPCC families (26);
3) later age at onset of cancers e.g. for colorectal cancer the mean age at diagnosis is ~56 yrs, for endometrial cancer ~54 yrs and for ovarian cancer ~49 yrs (25, 26);
4) frequent left-sided localization of colorectal cancer (9).
1) selection of families with colorectal, endometrial, ovarian, urinary tract and/or stomach, breast cancer aggregation,
2) immunohistochemical analysis (IHC) of hMSH6 protein expression in tumour colorectal or endometrial tissue (27-29),
3) in cases of hMSH6-negative tumours, DHPLC/sequencing of the coding regions of hMSH6gene.
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