Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

Aung Ko Win; James G Dowty; Sean P. Cleary; Hyeja Kim; Daniel D Buchanan; Joanne P Young; Mark Clendenning; Christophe Rosty; Robert J. Macinnis; Graham G. Giles; Alex Boussioutas; Finlay A Macrae; Susan Parry; Jack Goldblatt; John A. Baron; Terrilea Burnett; Loïc Le Marchand; Polly A Newcomb; Robert W C Haile; John L. Hopper; Michelle Cotterchio; Steven Gallinger; Noralane M Lindor; Katherine M. Tucker; Ingrid M. Winship; Mark A. Jenkins

doi:10.1053/j.gastro.2014.01.022

Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

Aung Ko Win, James G Dowty, Sean P. Cleary, Hyeja Kim, Daniel D Buchanan, Joanne P Young, Mark Clendenning, Christophe Rosty, Robert J. Macinnis, Graham G. Giles, Alex Boussioutas, Finlay A Macrae, Susan Parry, Jack Goldblatt, John A. Baron, Terrilea Burnett, Loïc Le Marchand, Polly A Newcomb, Robert W C Haile, John L. HopperMichelle Cotterchio, Steven Gallinger, Noralane M Lindor, Katherine M. Tucker, Ingrid M. Winship, Mark A. Jenkins

Research output: Contribution to journal › Article › Research › peer-review

144 Citations (Scopus)

Abstract

We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks through 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%-11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%-8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC diagnosed by 50 years of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men (95% CI, 8.6%-17.7%) and 10% for women (95% CI, 6.7%-14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population.

Original language	English
Pages (from-to)	1208-1211
Number of pages	9
Journal	Gastroenterology
Volume	146
Issue number	5
DOIs	https://doi.org/10.1053/j.gastro.2014.01.022
Publication status	Published - May 2014
Externally published	Yes

Keywords

Base Excision Repair Gene
Colon Cancer
DNA Damage Response
Genetics
Keywords

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Win, A. K., Dowty, J. G., Cleary, S. P., Kim, H., Buchanan, D. D., Young, J. P., Clendenning, M., Rosty, C., Macinnis, R. J., Giles, G. G., Boussioutas, A., Macrae, F. A., Parry, S., Goldblatt, J., Baron, J. A., Burnett, T., Le Marchand, L., Newcomb, P. A., Haile, R. W. C., ... Jenkins, M. A. (2014). Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology, 146(5), 1208-1211. https://doi.org/10.1053/j.gastro.2014.01.022

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title = "Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer",

abstract = "We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks through 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%-11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%-8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC diagnosed by 50 years of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men (95% CI, 8.6%-17.7%) and 10% for women (95% CI, 6.7%-14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population.",

keywords = "Base Excision Repair Gene, Colon Cancer, DNA Damage Response, Genetics, Keywords",

author = "Win, {Aung Ko} and Dowty, {James G} and Cleary, {Sean P.} and Hyeja Kim and Buchanan, {Daniel D} and Young, {Joanne P} and Mark Clendenning and Christophe Rosty and Macinnis, {Robert J.} and Giles, {Graham G.} and Alex Boussioutas and Macrae, {Finlay A} and Susan Parry and Jack Goldblatt and Baron, {John A.} and Terrilea Burnett and {Le Marchand}, Lo{\"i}c and Newcomb, {Polly A} and Haile, {Robert W C} and Hopper, {John L.} and Michelle Cotterchio and Steven Gallinger and Lindor, {Noralane M} and Tucker, {Katherine M.} and Winship, {Ingrid M.} and Jenkins, {Mark A.}",

year = "2014",

month = may,

doi = "10.1053/j.gastro.2014.01.022",

language = "English",

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Win, AK, Dowty, JG, Cleary, SP, Kim, H, Buchanan, DD, Young, JP, Clendenning, M, Rosty, C, Macinnis, RJ, Giles, GG, Boussioutas, A, Macrae, FA, Parry, S, Goldblatt, J, Baron, JA, Burnett, T, Le Marchand, L, Newcomb, PA, Haile, RWC, Hopper, JL, Cotterchio, M, Gallinger, S, Lindor, NM, Tucker, KM, Winship, IM & Jenkins, MA 2014, 'Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer', Gastroenterology, vol. 146, no. 5, pp. 1208-1211. https://doi.org/10.1053/j.gastro.2014.01.022

TY - JOUR

T1 - Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

AU - Win, Aung Ko

AU - Dowty, James G

AU - Cleary, Sean P.

AU - Kim, Hyeja

AU - Buchanan, Daniel D

AU - Young, Joanne P

AU - Clendenning, Mark

AU - Rosty, Christophe

AU - Macinnis, Robert J.

AU - Giles, Graham G.

AU - Boussioutas, Alex

AU - Macrae, Finlay A

AU - Parry, Susan

AU - Goldblatt, Jack

AU - Baron, John A.

AU - Burnett, Terrilea

AU - Le Marchand, Loïc

AU - Newcomb, Polly A

AU - Haile, Robert W C

AU - Hopper, John L.

AU - Cotterchio, Michelle

AU - Gallinger, Steven

AU - Lindor, Noralane M

AU - Tucker, Katherine M.

AU - Winship, Ingrid M.

AU - Jenkins, Mark A.

PY - 2014/5

Y1 - 2014/5

N2 - We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks through 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%-11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%-8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC diagnosed by 50 years of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men (95% CI, 8.6%-17.7%) and 10% for women (95% CI, 6.7%-14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population.

AB - We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks through 70 years of age of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%-11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%-8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC diagnosed by 50 years of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men (95% CI, 8.6%-17.7%) and 10% for women (95% CI, 6.7%-14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population.

KW - Base Excision Repair Gene

KW - Colon Cancer

KW - DNA Damage Response

KW - Genetics

KW - Keywords

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U2 - 10.1053/j.gastro.2014.01.022

DO - 10.1053/j.gastro.2014.01.022

M3 - Article

C2 - 24444654

AN - SCOPUS:84899413123

VL - 146

SP - 1208

EP - 1211

JO - Gastroenterology

JF - Gastroenterology

SN - 0016-5085

IS - 5

ER -

Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer

Abstract

Keywords

UN SDGs

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