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

Win, Aung Ko, Dowty, James G., Cleary, Sean P., Kim, Hyeja, Buchanan, Daniel D., Young, Joanne P., Clendenning, Mark, Rosty, Christophe, Macinnis, Robert J., Giles, Graham G., Boussioutas, Alex, Macrae, Finlay A., Parry, Susan, Goldblatt, Jack, Baron, John A., Burnett, Terrilea, Le Marchand, Loïc, Newcomb, Polly A., Haile, Robert W., Hopper, John L., Cotterchio, Michelle, Gallinger, Steven, Lindor, Noralane M., Tucker, Katherine M., Winship, Ingrid M. and Jenkins, Mark 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.e5. doi:10.1053/j.gastro.2014.01.022

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Author Win, Aung Ko
Dowty, James G.
Cleary, Sean P.
Kim, Hyeja
Buchanan, Daniel D.
Young, Joanne P.
Clendenning, Mark
Rosty, Christophe
Macinnis, Robert J.
Giles, Graham G.
Boussioutas, Alex
Macrae, Finlay A.
Parry, Susan
Goldblatt, Jack
Baron, John A.
Burnett, Terrilea
Le Marchand, Loïc
Newcomb, Polly A.
Haile, Robert W.
Hopper, John L.
Cotterchio, Michelle
Gallinger, Steven
Lindor, Noralane M.
Tucker, Katherine M.
Winship, Ingrid M.
Jenkins, Mark A.
Title Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer
Formatted title
Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer
Journal name Gastroenterology   Check publisher's open access policy
ISSN 1528-0012
0016-5085
Publication date 2014-05-01
Year available 2014
Sub-type Article (original research)
DOI 10.1053/j.gastro.2014.01.022
Open Access Status File (Author Post-print)
Volume 146
Issue 5
Start page 1208
End page 1211.e5
Total pages 9
Place of publication Maryland Heights, MO, United States
Publisher W.B. Saunders
Language eng
Formatted 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.
Keyword Colon cancer
Genetics
Base excision repair gene
DNA damage response
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID CA-95-011
R01CA170122
APP1042021
Institutional Status UQ
Additional Notes Article runs pp.1208-1211, plus 5 pages of supplementary materials.

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
School of Medicine Publications
 
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