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

A.K.O. Win; J.G. Dowty; S.P. Cleary; H. Kim; D.D. Buchanan; M. Clendenning; C. Rosty; R.J. Macinnis; G.G. Giles; A. Boussioutas; F.A. Macrae; S. Parry; Jack Goldblatt; J.A. Baron; T.S. Burnett; L. Le Marchand; P. Newcomb; R.W.C. Haile; J.L. Hopper; M. Cotterchio; S.S. Gallinger; N.M. Lindor; K.M. Tucker; I.M. Winship; M.A. Jenkins; J.P. Young

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

A.K.O. Win, J.G. Dowty, S.P. Cleary, H. Kim, D.D. Buchanan, M. Clendenning, C. Rosty, R.J. Macinnis, G.G. Giles, A. Boussioutas, F.A. Macrae, S. Parry, Jack Goldblatt, J.A. Baron, T.S. Burnett, L. Le Marchand, P. Newcomb, R.W.C. Haile, J.L. Hopper, M. CotterchioS.S. Gallinger, N.M. Lindor, K.M. Tucker, I.M. Winship, M.A. Jenkins, J.P. Young

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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.e5
Journal	Gastroenterology
Volume	146
Issue number	5
Early online date	17 Jan 2014
DOIs	https://doi.org/10.1053/j.gastro.2014.01.022
Publication status	Published - May 2014

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291738/

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Win, A. K. O., Dowty, J. G., Cleary, S. P., Kim, H., Buchanan, D. D., Clendenning, M., Rosty, C., Macinnis, R. J., Giles, G. G., Boussioutas, A., Macrae, F. A., Parry, S., Goldblatt, J., Baron, J. A., Burnett, T. S., Le Marchand, L., Newcomb, P., Haile, R. W. C., Hopper, J. L., ... Young, J. P. (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. 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.",

author = "A.K.O. Win and J.G. Dowty and S.P. Cleary and H. Kim and D.D. Buchanan and M. Clendenning and C. Rosty and R.J. Macinnis and G.G. Giles and A. Boussioutas and F.A. Macrae and S. Parry and Jack Goldblatt and J.A. Baron and T.S. Burnett and {Le Marchand}, L. and P. Newcomb and R.W.C. Haile and J.L. Hopper and M. Cotterchio and S.S. Gallinger and N.M. Lindor and K.M. Tucker and I.M. Winship and M.A. Jenkins and J.P. Young",

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Win, AKO, Dowty, JG, Cleary, SP, Kim, H, Buchanan, DD, Clendenning, M, Rosty, C, Macinnis, RJ, Giles, GG, Boussioutas, A, Macrae, FA, Parry, S, Goldblatt, J, Baron, JA, Burnett, TS, Le Marchand, L, Newcomb, P, Haile, RWC, Hopper, JL, Cotterchio, M, Gallinger, SS, Lindor, NM, Tucker, KM, Winship, IM, Jenkins, MA & Young, JP 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.e5. 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, A.K.O.

AU - Dowty, J.G.

AU - Cleary, S.P.

AU - Kim, H.

AU - Buchanan, D.D.

AU - Clendenning, M.

AU - Rosty, C.

AU - Macinnis, R.J.

AU - Giles, G.G.

AU - Boussioutas, A.

AU - Macrae, F.A.

AU - Parry, S.

AU - Goldblatt, Jack

AU - Baron, J.A.

AU - Burnett, T.S.

AU - Le Marchand, L.

AU - Newcomb, P.

AU - Haile, R.W.C.

AU - Hopper, J.L.

AU - Cotterchio, M.

AU - Gallinger, S.S.

AU - Lindor, N.M.

AU - Tucker, K.M.

AU - Winship, I.M.

AU - Jenkins, M.A.

AU - Young, J.P.

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.

U2 - 10.1053/j.gastro.2014.01.022

DO - 10.1053/j.gastro.2014.01.022

M3 - Article

SN - 0016-5085

VL - 146

SP - 1208-1211.e5

JO - Gastroenterology

JF - Gastroenterology

IS - 5

ER -

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

Abstract

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