<p>The ~80% of individuals with classic familial adenomatous polyposis (FAP) have detectable mutations in the coding sequence of the adenomatous polyposis coli (APC) gene. To investigate the 20% of families without detectable causative mutations, we used exome sequencing and second-generation sequencing of the APC locus including non-coding regions. We identified a novel ~11kb deletion 44kb upstream of APC that was present only in affected individuals of three kindreds. SNP analysis showed that this ~11kb deletion was accompanied by silencing of one of the APC alleles in blood-derived RNA of affected individuals. </p>

APC Promoter Deletion in Classic Familial Adenomatous Polyposis

1 selected publication including "Novel APC promoter and exon 1B deletion and allelic silencing in three..." (23 citations)

APC Promoter Deletion in Classic Familial Adenomatous Polyposis

Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families