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Hereditary Cancer in Clinical Practice

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Open Access 01-12-2018 | Research

CD36 – a plausible modifier of disease phenotype in familial adenomatous polyposis

Authors: Merran Holmes, Toni Connor, Christopher Oldmeadow, Peter G. Pockney, Rodney J. Scott, Bente A. Talseth-Palmer

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2018

Abstract

Background

Familial adenomatous polyposis (FAP) is a well characterised genetic predisposition to early onset colorectal cancer (CRC) that is characterised by polyposis of the colon and rectum. Animal models have consistently suggested the role of modifier genes in determining disease phenotype, yet none have been substantiated in the human population. The mouse homologue of cluster of differentiation 36 (CD36) has been proposed as a modifier of disease in the MIN mouse model of FAP.

Methods

Three single nucleotide polymorphisms (SNPs); rs1049673, rs1761667 and rs1984112 in CD36, have been investigated in 275 FAP patients to determine if they were associated with age of polyposis or risk of developing disease.

Results

The results revealed a substantially lower age of polyposis diagnosis for patients belonging to the severe FAP group (harbouring adenomatous polyposis coli (APC) variants in the mutation cluster region (MCR)) and high age for patients in the attenuated familial adenomatous polyposis (AFAP) group for SNPs rs1761667 and rs1984112.

Conclusions

This study provides evidence for patients belonging to the MCR and AFAP groups harbouring specific genotypes for SNPs in CD36 to initiate screening/treatment for FAP at much earlier (MCR) and much later (AFAP) ages than the norm in today’s clinical practice. The findings need to be verified in an independent FAP patient cohort.

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Title: CD36 – a plausible modifier of disease phenotype in familial adenomatous polyposis
Authors: Merran Holmes
Toni Connor
Christopher Oldmeadow
Peter G. Pockney
Rodney J. Scott
Bente A. Talseth-Palmer
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: Hereditary Cancer in Clinical Practice / Issue 1/2018
Electronic ISSN: 1897-4287
DOI: https://doi.org/10.1186/s13053-018-0096-y

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