DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer |
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Authors: | Tao Liu,Siobhan Wahlberg,Carlos Rubio,Eva Holmberg,Henrik Grö nberg,Annika Lindblom |
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Affiliation: | Department of Molecular Medicine, CMM L8–02, Karolinska Institute;Department of Pathology, Karolinska Hospital, S-171 76 Stockholm;Departments of Clinical Genetics, University Hospital, S-90185 Umeå, Sweden;Departments of Oncology, University Hospital, S-90185 Umeå, Sweden |
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Abstract: | Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited syndrome which confers an increased risk for colorectal cancer and endometrial cancer as well as other tumors. It is caused by germline DNA mismatch repair (MMR) gene mutations in five MMR genes, hMSH2, hMLH1, hPMS1, hPMS2 and hMSH6. Finding mutations in these high risk families means that you can offer presymptomatic carrier diagnosis and thereby identify individuals with a very high risk for cancer. These persons benefit from counseling and should be offered surveillance. We have used DGGE to screen members from 34 families for mutations in hMLHl and hMSH2. Six mutations in five families were found, five of these mutations are new. Besides, three new polymorphisms were identified. The mutations were found in two of seven Amsterdam criteria HNPCC families and in three of four families with at least one case of early onset of CRC (before 35), suggesting there are apporopriate families to be chosen for mutation screening in MMR genes. |
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Keywords: | hMLH1 hMSH2 DGGE HNPCC hereditary non-polyposis colorectal cancer |
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