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A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. / Stacey, Simon N; Sulem, Patrick; Jonasdottir, Aslaug; Masson, Gisli; Gudmundsson, Julius; Gudbjartsson, Daniel F; Magnusson, Olafur T; Gudjonsson, Sigurjon A; Sigurgeirsson, Bardur; Thorisdottir, Kristin; Ragnarsson, Rafn; Benediktsdottir, Kristrun R; Nexø, Bjørn Andersen; Tjønneland, Anne; Overvad, Kim; Rudnai, Peter; Gurzau, Eugene; Koppova, Kvetoslava; Hemminki, Kari; Corredera, Cristina; Fuentelsaz, Victoria; Grasa, Pilar; Navarrete, Sebastian; Fuertes, Fernando; García-Prats, Maria D; Sanambrosio, Enrique; Panadero, Angeles; De Juan, Ana; Garcia, Almudena; Rivera, Fernando; Planelles, Dolores; Soriano, Virtudes; Requena, Celia; Aben, Katja K; van Rossum, Michelle M; Cremers, Ruben G H M; van Oort, Inge M; van Spronsen, Dick-Johan; Schalken, Jack A; Peters, Wilbert H M; Helfand, Brian T; Donovan, Jenny L; Hamdy, Freddie C; Badescu, Daniel; Codreanu, Ovidiu; Banasik, Karina; Jørgensen, Torben; Witte, Daniel R; Hansen, Torben; Pedersen, Oluf; Swedish Low-risk Colorectal Cancer Study Group.
In:
Nature Genetics, Vol. 43, No. 11, 01.01.2011, p. 1098-1103.
Research output: Contribution to journal › Letter › Research › peer-review
Harvard
Stacey, SN, Sulem, P, Jonasdottir, A, Masson, G, Gudmundsson, J, Gudbjartsson, DF, Magnusson, OT, Gudjonsson, SA, Sigurgeirsson, B, Thorisdottir, K, Ragnarsson, R, Benediktsdottir, KR, Nexø, BA, Tjønneland, A, Overvad, K, Rudnai, P, Gurzau, E, Koppova, K, Hemminki, K, Corredera, C, Fuentelsaz, V, Grasa, P, Navarrete, S, Fuertes, F, García-Prats, MD, Sanambrosio, E, Panadero, A, De Juan, A, Garcia, A, Rivera, F, Planelles, D, Soriano, V, Requena, C, Aben, KK, van Rossum, MM, Cremers, RGHM, van Oort, IM, van Spronsen, D-J, Schalken, JA, Peters, WHM, Helfand, BT, Donovan, JL, Hamdy, FC, Badescu, D, Codreanu, O
, Banasik, K, Jørgensen, T, Witte, DR
, Hansen, T, Pedersen, O & Swedish Low-risk Colorectal Cancer Study Group 2011, '
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility',
Nature Genetics, vol. 43, no. 11, pp. 1098-1103.
https://doi.org/10.1038/ng.926APA
Stacey, S. N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D. F., Magnusson, O. T., Gudjonsson, S. A., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K. R., Nexø, B. A., Tjønneland, A., Overvad, K., Rudnai, P., Gurzau, E., Koppova, K., Hemminki, K., ... Swedish Low-risk Colorectal Cancer Study Group (2011).
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
Nature Genetics,
43(11), 1098-1103.
https://doi.org/10.1038/ng.926Vancouver
Stacey SN, Sulem P, Jonasdottir A, Masson G, Gudmundsson J, Gudbjartsson DF et al.
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
Nature Genetics. 2011 Jan 1;43(11):1098-1103.
https://doi.org/10.1038/ng.926Author
Stacey, Simon N ; Sulem, Patrick ; Jonasdottir, Aslaug ; Masson, Gisli ; Gudmundsson, Julius ; Gudbjartsson, Daniel F ; Magnusson, Olafur T ; Gudjonsson, Sigurjon A ; Sigurgeirsson, Bardur ; Thorisdottir, Kristin ; Ragnarsson, Rafn ; Benediktsdottir, Kristrun R ; Nexø, Bjørn Andersen ; Tjønneland, Anne ; Overvad, Kim ; Rudnai, Peter ; Gurzau, Eugene ; Koppova, Kvetoslava ; Hemminki, Kari ; Corredera, Cristina ; Fuentelsaz, Victoria ; Grasa, Pilar ; Navarrete, Sebastian ; Fuertes, Fernando ; García-Prats, Maria D ; Sanambrosio, Enrique ; Panadero, Angeles ; De Juan, Ana ; Garcia, Almudena ; Rivera, Fernando ; Planelles, Dolores ; Soriano, Virtudes ; Requena, Celia ; Aben, Katja K ; van Rossum, Michelle M ; Cremers, Ruben G H M ; van Oort, Inge M ; van Spronsen, Dick-Johan ; Schalken, Jack A ; Peters, Wilbert H M ; Helfand, Brian T ; Donovan, Jenny L ; Hamdy, Freddie C ; Badescu, Daniel ; Codreanu, Ovidiu ; Banasik, Karina ; Jørgensen, Torben ; Witte, Daniel R ; Hansen, Torben ; Pedersen, Oluf ; Swedish Low-risk Colorectal Cancer Study Group. / A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. In: Nature Genetics. 2011 ; Vol. 43, No. 11. pp. 1098-1103.
Bibtex
@article{eee466634466411fa667bc2a1ee3e5cd,
title = "A germline variant in the TP53 polyadenylation signal confers cancer susceptibility",
abstract = "To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).",
author = "Stacey, {Simon N} and Patrick Sulem and Aslaug Jonasdottir and Gisli Masson and Julius Gudmundsson and Gudbjartsson, {Daniel F} and Magnusson, {Olafur T} and Gudjonsson, {Sigurjon A} and Bardur Sigurgeirsson and Kristin Thorisdottir and Rafn Ragnarsson and Benediktsdottir, {Kristrun R} and Nex{\o}, {Bj{\o}rn Andersen} and Anne Tj{\o}nneland and Kim Overvad and Peter Rudnai and Eugene Gurzau and Kvetoslava Koppova and Kari Hemminki and Cristina Corredera and Victoria Fuentelsaz and Pilar Grasa and Sebastian Navarrete and Fernando Fuertes and Garc{\'i}a-Prats, {Maria D} and Enrique Sanambrosio and Angeles Panadero and {De Juan}, Ana and Almudena Garcia and Fernando Rivera and Dolores Planelles and Virtudes Soriano and Celia Requena and Aben, {Katja K} and {van Rossum}, {Michelle M} and Cremers, {Ruben G H M} and {van Oort}, {Inge M} and {van Spronsen}, Dick-Johan and Schalken, {Jack A} and Peters, {Wilbert H M} and Helfand, {Brian T} and Donovan, {Jenny L} and Hamdy, {Freddie C} and Daniel Badescu and Ovidiu Codreanu and Karina Banasik and Torben J{\o}rgensen and Witte, {Daniel R} and Torben Hansen and Oluf Pedersen and {Swedish Low-risk Colorectal Cancer Study Group}",
year = "2011",
month = jan,
day = "1",
doi = "10.1038/ng.926",
language = "English",
volume = "43",
pages = "1098--1103",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "11",
}
RIS
TY - JOUR
T1 - A germline variant in the TP53 polyadenylation signal confers cancer susceptibility
AU - Stacey, Simon N
AU - Sulem, Patrick
AU - Jonasdottir, Aslaug
AU - Masson, Gisli
AU - Gudmundsson, Julius
AU - Gudbjartsson, Daniel F
AU - Magnusson, Olafur T
AU - Gudjonsson, Sigurjon A
AU - Sigurgeirsson, Bardur
AU - Thorisdottir, Kristin
AU - Ragnarsson, Rafn
AU - Benediktsdottir, Kristrun R
AU - Nexø, Bjørn Andersen
AU - Tjønneland, Anne
AU - Overvad, Kim
AU - Rudnai, Peter
AU - Gurzau, Eugene
AU - Koppova, Kvetoslava
AU - Hemminki, Kari
AU - Corredera, Cristina
AU - Fuentelsaz, Victoria
AU - Grasa, Pilar
AU - Navarrete, Sebastian
AU - Fuertes, Fernando
AU - García-Prats, Maria D
AU - Sanambrosio, Enrique
AU - Panadero, Angeles
AU - De Juan, Ana
AU - Garcia, Almudena
AU - Rivera, Fernando
AU - Planelles, Dolores
AU - Soriano, Virtudes
AU - Requena, Celia
AU - Aben, Katja K
AU - van Rossum, Michelle M
AU - Cremers, Ruben G H M
AU - van Oort, Inge M
AU - van Spronsen, Dick-Johan
AU - Schalken, Jack A
AU - Peters, Wilbert H M
AU - Helfand, Brian T
AU - Donovan, Jenny L
AU - Hamdy, Freddie C
AU - Badescu, Daniel
AU - Codreanu, Ovidiu
AU - Banasik, Karina
AU - Jørgensen, Torben
AU - Witte, Daniel R
AU - Hansen, Torben
AU - Pedersen, Oluf
AU - Swedish Low-risk Colorectal Cancer Study Group
PY - 2011/1/1
Y1 - 2011/1/1
N2 - To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).
AB - To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).
U2 - 10.1038/ng.926
DO - 10.1038/ng.926
M3 - Letter
C2 - 21946351
VL - 43
SP - 1098
EP - 1103
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 11
ER -
