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

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...

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Veröffentlicht in:	Journal of human genetics 2012-11, Vol.57 (11), p.709-716
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - genetics Adenoma - epidemiology Adenoma - genetics Adenomatous Polyposis Coli - genetics Adult Age Age of Onset beta Catenin - genetics BRCA2 protein BRCA2 Protein - genetics Case-Control Studies Colorectal cancer Colorectal carcinoma Colorectal Neoplasms - epidemiology Colorectal Neoplasms - genetics Computer Simulation DNA Repair Enzymes - genetics Exodeoxyribonucleases - genetics France Gene Frequency Genetic Predisposition to Disease Genetic Variation Humans Middle Aged MLH1 protein MutL Protein Homolog 1 Nuclear Proteins - genetics Odds Ratio Risk factors United Kingdom
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Zusammenfassung:	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 (
ISSN:	1434-5161 1435-232X
DOI:	10.1038/jhg.2012.99