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Article
Open AccessA retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families
Lynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes MLH1, MSH2, MSH6 or PMS2. Carriers are predisposed to colorectal and e...
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Article
Open AccessHaplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation
Lynch syndrome (LS) predisposes to a spectrum of cancers and increases the lifetime risk of develo** colorectal- or endometrial cancer to over 50%. Lynch syndrome is dominantly inherited and is caused by def...
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Article
Open AccessSequence features of HLA-DRB1 locus define putative basis for gene conversion and point mutations
HLA/MHC class II molecules show high degree of polymorphism in the human population. The individual polymorphic motifs have been suggested to be propagated and mixed by transfer of genetic material (recombinat...
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Article
Full-length sequence analysis of the HLA-DRB1 locus suggests a recent origin of alleles
The HLA region harbors some of the most polymorphic loci in the human genome. Among them is the class II locus HLA-DRB1, with more than 400 known alleles. The age of the polymorphism and the rate at which new all...
