CDKN2A c.151-782G>C

Variant ID: 9-21971989-C-G

NM_000077.4(CDKN2A):c.151-782G>C

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs3731246
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Common germline variants within the CDKN2A/2B region affect risk of pancreatic neuroendocrine tumors.

Scientific Reports
Campa, Daniele D; Capurso, Gabriele G; Pastore, Manuela M; Talar-Wojnarowska, Renata R; Milanetto, Anna Caterina AC; Landoni, Luca L; Maiello, Evaristo E; Lawlor, Rita T RT; Malecka-Panas, Ewa E; Funel, Niccola N; Gazouli, Maria M; De Bonis, Antonio A; Klüter, Harald H; Rinzivillo, Maria M; Delle Fave, Gianfranco G; Hackert, Thilo T; Landi, Stefano S; Bugert, Peter P; Bambi, Franco F; Archibugi, Livia L; Scarpa, Aldo A; Katzke, Verena V; Dervenis, Christos C; Liço, Valbona V; Furlanello, Sara S; Strobel, Oliver O; Tavano, Francesca F; Basso, Daniela D; Kaaks, Rudolf R; Pasquali, Claudio C; Gentiluomo, Manuel M; Rizzato, Cosmeri C; Canzian, Federico F
Publication Date: 2016-12-23

Variant appearance in text: rs3731246
PubMed Link: 28008994
Variant Present in the following documents:
  • Main text
  • srep39565.pdf
View BVdb publication page



Functional single nucleotide polymorphisms within the cyclin-dependent kinase inhibitor 2A/2B region affect pancreatic cancer risk.

Oncotarget
Campa, Daniele D; Pastore, Manuela M; Gentiluomo, Manuel M; Talar-Wojnarowska, Renata R; Kupcinskas, Juozas J; Malecka-Panas, Ewa E; Neoptolemos, John P JP; Niesen, Willem W; Vodicka, Pavel P; Delle Fave, Gianfranco G; Bueno-de-Mesquita, H Bas HB; Gazouli, Maria M; Pacetti, Paola P; Di Leo, Milena M; Ito, Hidemi H; Klüter, Harald H; Soucek, Pavel P; Corbo, Vincenzo V; Yamao, Kenji K; Hosono, Satoyo S; Kaaks, Rudolf R; Vashist, Yogesh Y; Gioffreda, Domenica D; Strobel, Oliver O; Shimizu, Yasuhiro Y; Dijk, Frederike F; Andriulli, Angelo A; Ivanauskas, Audrius A; Bugert, Peter P; Tavano, Francesca F; Vodickova, Ludmila L; Zambon, Carlo Federico CF; Lovecek, Martin M; Landi, Stefano S; Key, Timothy J TJ; Boggi, Ugo U; Pezzilli, Raffaele R; Jamroziak, Krzysztof K; Mohelnikova-Duchonova, Beatrice B; Mambrini, Andrea A; Bambi, Franco F; Busch, Olivier O; Pazienza, Valerio V; Valente, Roberto R; Theodoropoulos, George E GE; Hackert, Thilo T; Capurso, Gabriele G; Cavestro, Giulia Martina GM; Pasquali, Claudio C; Basso, Daniela D; Sperti, Cosimo C; Matsuo, Keitaro K; Büchler, Markus M; Khaw, Kay-Tee KT; Izbicki, Jakob J; Costello, Eithne E; Katzke, Verena V; Michalski, Christoph C; Stepien, Anna A; Rizzato, Cosmeri C; Canzian, Federico F
Publication Date: 2016-08-30

Variant appearance in text: rs3731246
PubMed Link: 27486979
Variant Present in the following documents:
  • Main text
  • oncotarget-07-57011.pdf
View BVdb publication page



The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A.

Scientific Reports
Vijayakrishnan, Jayaram J; Henrion, Marc M; Moorman, Anthony V AV; Fiege, Bettina B; Kumar, Rajiv R; da Silva Filho, Miguel Inacio MI; Holroyd, Amy A; Koehler, Rolf R; Thomsen, Hauke H; Irving, Julie A JA; Allan, James M JM; Lightfoot, Tracy T; Roman, Eve E; Kinsey, Sally E SE; Sheridan, Eamonn E; Thompson, Pamela D PD; Hoffmann, Per P; Nöthen, Markus M MM; Mühleisen, Thomas W TW; Eisele, Lewin L; Bartram, Claus R CR; Schrappe, Martin M; Greaves, Mel M; Hemminki, Kari K; Harrison, Christine J CJ; Stanulla, Martin M; Houlston, Richard S RS
Publication Date: 2015-10-14

Variant appearance in text: rs3731246
PubMed Link: 26463672
Variant Present in the following documents:
  • srep15065-s1.pdf
View BVdb publication page



Association Study of Genetic Variants in CDKN2A/CDKN2B Genes/Loci with Late-Onset Alzheimer's Disease.

International Journal Of Alzheimer'S Disease
Tedde, Andrea A; Piaceri, Irene I; Bagnoli, Silvia S; Lucenteforte, Ersilia E; Ueberham, Uwe U; Arendt, Thomas T; Sorbi, Sandro S; Nacmias, Benedetta B
Publication Date: 2011-04-14

Variant appearance in text: rs3731246
PubMed Link: 21559192
Variant Present in the following documents:
  • Main text
  • IJAD2011-374631.pdf
View BVdb publication page



Linkage and association study of late-onset Alzheimer disease families linked to 9p21.3.

Annals Of Human Genetics
Züchner, S S; Gilbert, J R JR; Martin, E R ER; Leon-Guerrero, C R CR; Xu, P-T PT; Browning, C C; Bronson, P G PG; Whitehead, P P; Schmechel, D E DE; Haines, J L JL; Pericak-Vance, M A MA
Publication Date: 2008-11

Variant appearance in text: rs3731246
PubMed Link: 18761660
Variant Present in the following documents:
  • Main text
View BVdb publication page