A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
- 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, RG
- van Oort, IM
- van Spronsen, DJ
- Schalken, JA
- Peters, WH
- Helfand, BT
- Donovan, JL
- Hamdy, FC
- Badescu, D
- Codreanu, O
- Jinga, M
- Csiki, IE
- Constantinescu, V
- Badea, P
- Mates, IN
- Dinu, DE
- Constantin, A
- Mates, D
- Kristjansdottir, S
- Agnarsson, BA
- Jonsson, E
- Barkardottir, RB
- Einarsson, GV
- Sigurdsson, F
- Moller, PH
- Stefansson, T
- Valdimarsson, T
- Johannsson, OT
- Sigurdsson, H
- Jonsson, T
- Jonasson, JG
- Tryggvadottir, L
- Rice, T
- Hansen, HM
- Xiao, Y
- Lachance, DH
- O Neill, BP
- Kosel, ML
- Decker, PA
- Thorleifsson, G
- Johannsdottir, H
- Helgadottir, HT
- Sigurdsson, A
- Steinthorsdottir, V
- Lindblom, A
- Sandler, RS
- Keku, TO
- Banasik, K
- Jørgensen, T
- Witte, DR
- Hansen, T
- Pedersen, O
- Jinga, V
- Neal, DE
- Catalona, WJ
- Wrensch, M
- Wiencke, J
- Jenkins, RB
- Nagore, E
- Vogel, U
- Kiemeney, LA
- Kumar, R
- Mayordomo, JI
- Olafsson, JH
- Kong, A
- Thorsteinsdottir, U
- Rafnar, T
- Stefansson, K
DOIAbstract
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. Investiga...
Add to ORKG