Showing papers by "Asgeir Sigurdsson published in 2017"
TL;DR: It is found that CH is very common in the elderly, trending toward inevitability, and somatic mutations in TET2, DNMT3A, ASXL1, and PPM1D are associated with CH at high significance, however, known CD mutations were evident in only a fraction of CH cases.
549 citations
TL;DR: It is found that founder mutations in MSH6 and PMS2 prevail in Iceland unlike most other populations, and thirteen mismatch repair variants of uncertain significance that are not associated with cancer risk are found.
Abstract: Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 patients diagnosed between 2000–2009. One-hundred and thirty-two (11.2%) tumours are mismatch repair deficient per immunohistochemistry. Twenty-one (1.8%) have Lynch syndrome while 106 (9.0%) have somatic hypermethylation or mutations in the mismatch repair genes. The population prevalence of Lynch syndrome is 0.442%. We discover a translocation disrupting MLH1 and three mutations in MSH6 and PMS2 that increase endometrial, colorectal, brain and ovarian cancer risk. We find thirteen mismatch repair variants of uncertain significance that are not associated with cancer risk. We find that founder mutations in MSH6 and PMS2 prevail in Iceland unlike most other populations. Lynch syndrome is characterized by predisposition to colorectal cancer and mutations in genes involved in mismatch repair. Here, the authors use whole genome sequencing and immunohistochemistry of mismatch repair proteins to show a high prevalence of Lynch syndrome in the Icelandic population.
94 citations
TL;DR: This paper presents a meta-analyses of the determinants of infectious disease in eight operation theatres of the central nervous system and shows clear patterns of infection that are consistent with “persistent diarrhoea” and “chronic constipation”.
Abstract: Nat. Genet.; doi:10.1038/ng.3816; corrected online 17 April 2017 In the version of this article initially published online, the name of author Maryam S. Daneshpour was spelled incorrectly. The error has been corrected in the print, PDF and HTML versions of this article.
3 citations