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

10 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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title = "Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer",

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 (",

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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

PY - 2012

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N2 - 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 (

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 (

U2 - 10.1038/jhg.2012.99

DO - 10.1038/jhg.2012.99

M3 - Article (Academic Journal)

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SP - 709

EP - 716

JO - Journal of Human Genetics

JF - Journal of Human Genetics

IS - 11

ER -

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

Abstract

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