APC Gene Mutations and Colorectal Adenomas in Familial Adenomatous Polyposis
Author Information
Author(s): Ficari F, Cama A, Valanzano R, Curia M C, Palmirotta R, Aceto G, Esposito D L, Crognale S, Lombardi A, Messerini L, Mariani-Costantini R, Tonelli F, Battista P
Primary Institution: Unit of Surgery, Department of Clinical Physiopathology and Institute of Anatomic Pathology, University of Florence
Hypothesis
Correlations between germline APC mutation sites and colorectal pathophenotypes were investigated.
Conclusion
The study found that specific APC mutations are associated with varying severity of colorectal adenomatosis in patients with familial adenomatous polyposis.
Supporting Evidence
- The mis-sense mutation at codon 208 was associated with a relatively mild colorectal pathophenotype.
- The mutation at codon 367 was associated with attenuated familial adenomatous polyposis.
- The mutation at codon 1309 was associated with profuse colorectal adenomatosis.
- The most severe colorectal pathophenotype was significantly associated with the truncating mutation at codon 1309.
- Mutations affecting the I β-catenin binding domain were associated with a less severe colorectal pathophenotype.
- The highest number of adenomas was detected in the right colon.
- The highest density of adenomas was observed in the left colon.
- Colorectal carcinomas were observed in only five patients, all in the left colon.
Takeaway
This study looked at how different changes in a gene called APC affect the number of growths in the intestines of people with a condition called familial adenomatous polyposis.
Methodology
The study analyzed colectomy specimens from patients with different APC mutations to correlate mutation types with adenoma density and distribution.
Participant Demographics
Patients with familial adenomatous polyposis carrying various APC mutations.
Digital Object Identifier (DOI)
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