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

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

Research output: Contribution to journalArticle (Academic Journal)

9 Citations (Scopus)

Abstract

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 (
Original languageEnglish
Pages (from-to)709-16
Number of pages8
JournalJournal of Human Genetics
Volume57
Issue number11
DOIs
Publication statusPublished - 2012

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    Lefevre, J. H., Bonilla, C., Colas, C., Winney, B., Johnstone, E., Tonks, S., Day, T., Hutnik, K., Boumertit, A., Soubrier, F., Midgley, R., Kerr, D., Parc, Y., & Bodmer, W. F. (2012). Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer. Journal of Human Genetics, 57(11), 709-16. https://doi.org/10.1038/jhg.2012.99