Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers

Z. Ghorbanoghli; M. H. Nieuwenhuis; J. J. Houwing-Duistermaat; S. Jagmohan-Changur; F. J. Hes; C. M. Tops; A. Wagner; C. M. Aalfs; S. Verhoef; E. B. Gómez García; R. H. Sijmons; F. H. Menko; T. G. Letteboer; N. Hoogerbrugge; T. van Wezel; H. F A Vasen; J.T. Wijnen

doi:10.1007/s10689-016-9877-5

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers

Z. Ghorbanoghli^*, M. H. Nieuwenhuis, J. J. Houwing-Duistermaat, S. Jagmohan-Changur, F. J. Hes, C. M. Tops, A. Wagner, C. M. Aalfs, S. Verhoef, E. B. Gómez García, R. H. Sijmons, F. H. Menko, T. G. Letteboer, N. Hoogerbrugge, T. van Wezel, H. F A Vasen, J.T. Wijnen

^*Corresponding author for this work

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Abstract

Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome caused by germline mutations in the APC gene and characterized by the development of multiple colorectal adenomas and a high risk of developing colorectal cancer (CRC). The severity of polyposis is correlated with the site of the APC mutation. However, there is also phenotypic variability within families with the same underlying APC mutation, suggesting that additional factors influence the severity of polyposis. Genome-wide association studies identified several single nucleotide polymorphisms (SNPs) that are associated with CRC. We assessed whether these SNPs are associated with polyp multiplicity in proven APC mutation carriers. Sixteen CRC-associated SNPs were analysed in a cohort of 419 APC germline mutation carriers from 182 families. Clinical data were retrieved from the Dutch Polyposis Registry. Allele frequencies of the SNPs were compared for patients with

Original language	English
Pages (from-to)	563–570
Number of pages	8
Journal	Familial Cancer
Volume	15
Issue number	4
DOIs	https://doi.org/10.1007/s10689-016-9877-5
Publication status	Published - Oct 2016

Keywords

Cancer genetics
Colonic adenomas
Familial adenomatous polyposis
Genetic polymorphisms

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Ghorbanoghli, Z., Nieuwenhuis, M. H., Houwing-Duistermaat, J. J., Jagmohan-Changur, S., Hes, F. J., Tops, C. M., Wagner, A., Aalfs, C. M., Verhoef, S., Gómez García, E. B., Sijmons, R. H., Menko, F. H., Letteboer, T. G., Hoogerbrugge, N., van Wezel, T., Vasen, H. F. A., & Wijnen, J. T. (2016). Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers. Familial Cancer, 15(4), 563–570. https://doi.org/10.1007/s10689-016-9877-5

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title = "Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers",

abstract = "Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome caused by germline mutations in the APC gene and characterized by the development of multiple colorectal adenomas and a high risk of developing colorectal cancer (CRC). The severity of polyposis is correlated with the site of the APC mutation. However, there is also phenotypic variability within families with the same underlying APC mutation, suggesting that additional factors influence the severity of polyposis. Genome-wide association studies identified several single nucleotide polymorphisms (SNPs) that are associated with CRC. We assessed whether these SNPs are associated with polyp multiplicity in proven APC mutation carriers. Sixteen CRC-associated SNPs were analysed in a cohort of 419 APC germline mutation carriers from 182 families. Clinical data were retrieved from the Dutch Polyposis Registry. Allele frequencies of the SNPs were compared for patients with ",

keywords = "Cancer genetics, Colonic adenomas, Familial adenomatous polyposis, Genetic polymorphisms",

author = "Z. Ghorbanoghli and Nieuwenhuis, {M. H.} and Houwing-Duistermaat, {J. J.} and S. Jagmohan-Changur and Hes, {F. J.} and Tops, {C. M.} and A. Wagner and Aalfs, {C. M.} and S. Verhoef and {G{\'o}mez Garc{\'i}a}, {E. B.} and Sijmons, {R. H.} and Menko, {F. H.} and Letteboer, {T. G.} and N. Hoogerbrugge and {van Wezel}, T. and Vasen, {H. F A} and J.T. Wijnen",

year = "2016",

month = oct,

doi = "10.1007/s10689-016-9877-5",

language = "English",

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Ghorbanoghli, Z, Nieuwenhuis, MH, Houwing-Duistermaat, JJ, Jagmohan-Changur, S, Hes, FJ, Tops, CM, Wagner, A, Aalfs, CM, Verhoef, S, Gómez García, EB, Sijmons, RH, Menko, FH, Letteboer, TG, Hoogerbrugge, N, van Wezel, T, Vasen, HFA & Wijnen, JT 2016, 'Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers', Familial Cancer, vol. 15, no. 4, pp. 563–570. https://doi.org/10.1007/s10689-016-9877-5

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T1 - Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers

AU - Ghorbanoghli, Z.

AU - Nieuwenhuis, M. H.

AU - Houwing-Duistermaat, J. J.

AU - Jagmohan-Changur, S.

AU - Hes, F. J.

AU - Tops, C. M.

AU - Wagner, A.

AU - Aalfs, C. M.

AU - Verhoef, S.

AU - Gómez García, E. B.

AU - Sijmons, R. H.

AU - Menko, F. H.

AU - Letteboer, T. G.

AU - Hoogerbrugge, N.

AU - van Wezel, T.

AU - Vasen, H. F A

AU - Wijnen, J.T.

PY - 2016/10

Y1 - 2016/10

N2 - Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome caused by germline mutations in the APC gene and characterized by the development of multiple colorectal adenomas and a high risk of developing colorectal cancer (CRC). The severity of polyposis is correlated with the site of the APC mutation. However, there is also phenotypic variability within families with the same underlying APC mutation, suggesting that additional factors influence the severity of polyposis. Genome-wide association studies identified several single nucleotide polymorphisms (SNPs) that are associated with CRC. We assessed whether these SNPs are associated with polyp multiplicity in proven APC mutation carriers. Sixteen CRC-associated SNPs were analysed in a cohort of 419 APC germline mutation carriers from 182 families. Clinical data were retrieved from the Dutch Polyposis Registry. Allele frequencies of the SNPs were compared for patients with

AB - Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome caused by germline mutations in the APC gene and characterized by the development of multiple colorectal adenomas and a high risk of developing colorectal cancer (CRC). The severity of polyposis is correlated with the site of the APC mutation. However, there is also phenotypic variability within families with the same underlying APC mutation, suggesting that additional factors influence the severity of polyposis. Genome-wide association studies identified several single nucleotide polymorphisms (SNPs) that are associated with CRC. We assessed whether these SNPs are associated with polyp multiplicity in proven APC mutation carriers. Sixteen CRC-associated SNPs were analysed in a cohort of 419 APC germline mutation carriers from 182 families. Clinical data were retrieved from the Dutch Polyposis Registry. Allele frequencies of the SNPs were compared for patients with

KW - Cancer genetics

KW - Colonic adenomas

KW - Familial adenomatous polyposis

KW - Genetic polymorphisms

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C2 - 26880076

AN - SCOPUS:84958232669

SN - 1389-9600

VL - 15

SP - 563

EP - 570

JO - Familial Cancer

JF - Familial Cancer

IS - 4

ER -

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers

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