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

doi:10.1038/jhg.2012.99

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

Bristol Medical School (PHS)

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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 language	English
Pages (from-to)	709-16
Number of pages	8
Journal	Journal of Human Genetics
Volume	57
Issue number	11
DOIs	https://doi.org/10.1038/jhg.2012.99
Publication status	Published - 2012

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10.1038/jhg.2012.99

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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. / Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer. In: Journal of Human Genetics. 2012 ; Vol. 57, No. 11. pp. 709-16.

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

In: Journal of Human Genetics, Vol. 57, No. 11, 2012, p. 709-16.

Research output: Contribution to journal › Article (Academic Journal) › peer-review

TY - JOUR

T1 - Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer

AU - Lefevre, Jérémie H

AU - Bonilla, Carolina

AU - Colas, Chrystelle

AU - Winney, Bruce

AU - Johnstone, Elaine

AU - Tonks, Susan

AU - Day, Tammy

AU - Hutnik, Katarzyna

AU - Boumertit, Abdelhamid

AU - Soubrier, Florent

AU - Midgley, Rachel

AU - Kerr, David

AU - Parc, Yann

AU - Bodmer, Walter F

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AB - 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 (

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DO - 10.1038/jhg.2012.99

M3 - Article (Academic Journal)

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JO - Journal of Human Genetics

JF - Journal of Human Genetics

SN - 1434-5161

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

Abstract

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