Thursday, March 19, 2015 -
12:20 to 13:00
Specific location: 
Room 343

This week BMC Seminar will be Thursday, 19th March at 12:20 in Room 343 in Læknagarður

Speaker: Sigurdís Haraldsdóttir MD, MSc, Ohio State University Medical Center, Postdoc fellowship in Medical Oncology. Supervised by Richard M. Goldberg and Jón Gunnlaugur Jónasson

TitleIncidence of Lynch Syndrome and the Microsatellite Instability Pathway in Colorectal Cancer Patients in Iceland

Short abstract: Lynch syndrome (LS) accounts for about 2-5% of all colorectal cancer (CRC) cases and is the most common inherited cause for CRC. It is caused by an autosomal dominant mutation in one of the mismatch repair genes (MMR), MLH1, MSH2, MSH6 or PMS2. These genes permit errors in the matching of DNA nucleotides that occur during replication to be repaired during the mitotic process. One of the MMR genes, MLH1, is epigenetically inactivated by methylation of the promoter region in 12-15% of sporadic CRC, both Lynch syndrome and MLH1-hypermethylation results in tumors that develop via the microsatellite instability (MSI) pathway. Iceland’s population of 320,000 descended from 25,000-30,000 settlers from Norway around year 870 and the country has been relatively isolated resulting in a more genetically homogeneous population than in most other countries. The incidence of LS has not been investigated in Iceland. The goal of this study is to investigate the incidence of LS and MSI in the Icelandic nation by including all patients diagnosed with CRC from 2000-2009.

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