Article
A novel indel in exon 9 of APC upregulates a 'skip exon 9' isoform and causes very severe familial adenomatous polyposis.
European journal of human genetics : EJHG - 1 Jun 2014
Cheah Peh Yean, Wong Yu Hui, Koh Poh Koon, Loi Carol, Chew Min Hoe, Tang Choong Leong
Abstract excerpt
Germline mutation in the adenomatous polyposis coli (APC) gene causes the majority (80%) of familial adenomatous polyposis (FAP), an autosomal dominantly inherited form of colorectal cancer (CRC). Mutation in 5'end of exon 9 of APC usually results in an attenuated form of FAP (aFAP), characterized by later age of onset and fewer polyps. The presence of exon 9a, an in-frame isoform with exon 8 spliced to 3'end of...
Topics
- Adenomatous Polyposis Coli
- Adenomatous Polyposis Coli Protein
- Adult
- Base Sequence
- DNA Mutational Analysis
- Exons
- Family Health
- Female
- Genetic Predisposition to Disease
- Humans
- INDEL Mutation
- Pedigree
- Protein Isoforms
- Up-Regulation