Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively.

摘要: Colorectal cancer (CRC) is one of the major types in western world including Sweden. However, known genetic risk factors could only explain a limited part heritability disease. Moreover, colon and rectal cancers are habitually discussed as entity, colorectal cancer, although different carcinogenesis has been recognized. A genome-wide linkage scan 32 colon- 56 families from Sweden was performed based on 475 non-FAP/HNPCC patients genotyped using SNP arrays. maximum HLOD 2.50 at locus 6p21.1-p12.1 2.56 18p11.2 obtained for families, respectively. Exome sequencing over regions interest 12 six identified 22 25 candidate variants Haplotype association analysis two carried out between additional 477 familial CRC cases 4780 controls suggested haplotypes possibly associated with risk. This study new predisposing variants. Further studies required to elucidate pathogenic mechanism these pinpoint causative genes.