Liebenberg syndrome brachydactyly with joint dysplasia MIM…综合征肱指关节发育不良.pdfVIP

Downloaded from / on March 21, 2016 - Published by Letters 533 Letters to the Editor J Med Genet 2000;37:533–536 Incidence of germline hMLH1 and 1998, 300 newly diagnosed CRC patients from clinics all over Slovenia participated in this study. The sample of hMSH2 mutations (HNPCC patients) CRC is thus representative for the Slovenian population. among newly diagnosed colorectal All samples were gathered in a central institution where two physicians histologically evaluated each resection for a cancers in a Slovenian population high proportion of tumour tissue. We also confirmed a high proportion of cancer cells versus normal cells in tumour tissue in many samples that exhibited LOH during MSI analysis. Normal colorectal mucosa taken from a site EDITOR—Hereditary non-polyposis colorectal cancer distant from the tumour was used as a normal control in (HNPCC) syndrome is a common autosomal dominant the study. predisposition to colorectal cancer. Clinical diagnostic fea- We isolated DNA after tissue digestion using standard tures of sporadic and HNPCC associated colorectal cancer