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Article

Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.

Journal of human genetics - 26 Nov 2012

Lefevre Jérémie H, Bonilla Carolina, Colas Chrystelle, Winney Bruce, Johnstone Elaine, Tonks Susan, Day Tammy, Hutnik Katarzyna, Boumertit Abdelhamid, Soubrier Florent, Midgley Rachel, Kerr David, Parc Yann, Bodmer Walter F

Abstract excerpt

Some 15-20% of multiple adenomatous polyposis have no genetic explanation and 20-30% of colorectal cancer (CRC) cases are thought to be due to inherited multifactorial causes. Accumulation of deleterious effects of low-frequency dominant and independently acting variants may be a partial explanation for such patients. The aim of this study was to type a selection of rare and low-frequency variants (<5%) to...

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Identifiers

PMID: 22875147
DOI: 10.1038/jhg.2012.99
PMCID: PMC5140019

Genes

MAF
BRCA2
CTNNB1
EXO1
MLH1

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