CDKAL1 c.517+7823C>A

Variant ID: 6-20766697-C-A

NM_017774.3(CDKAL1):c.517+7823C>A

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4510656
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics
Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E
Publication Date: 2022-10-17

Variant appearance in text: CDKAL1: 517+7823C>A; rs4510656
PubMed Link: 36253817
Variant Present in the following documents:
  • 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The Interplay between Oxidative Stress, Inflammation and Angiogenesis in Bladder Cancer Development.

International Journal Of Molecular Sciences
Wigner, Paulina P; Grębowski, Radosław R; Bijak, Michał M; Saluk-Bijak, Joanna J; Szemraj, Janusz J
Publication Date: 2021-04-25

Variant appearance in text: rs4510656
PubMed Link: 33923108
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bladder Cancer Genetic Susceptibility. A Systematic Review.

Bladder Cancer (Amsterdam, Netherlands)
de Maturana, Evangelina López EL; Rava, Marta M; Anumudu, Chiaka C; Sáez, Olga O; Alonso, Dolores D; Malats, Núria N
Publication Date: 2018-04-26

Variant appearance in text: rs4510656
PubMed Link: 29732392
Variant Present in the following documents:
  • Main text
  • blc-4-blc170159.pdf
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GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer.

Human Molecular Genetics
Chen, Maxine M MM; O'Mara, Tracy A TA; Thompson, Deborah J DJ; Painter, Jodie N JN; , ; Attia, John J; Black, Amanda A; Brinton, Louise L; Chanock, Stephen S; Chen, Chu C; Cheng, Timothy Ht TH; Cook, Linda S LS; Crous-Bou, Marta M; Doherty, Jennifer J; Friedenreich, Christine M CM; Garcia-Closas, Montserrat M; Gaudet, Mia M MM; Gorman, Maggie M; Haiman, Christopher C; Hankinson, Susan E SE; Hartge, Patricia P; Henderson, Brian E BE; Hodgson, Shirley S; Holliday, Elizabeth G EG; Horn-Ross, Pamela L PL; Hunter, David J DJ; Le Marchand, Loic L; Liang, Xiaolin X; Lissowska, Jolanta J; Long, Jirong J; Lu, Lingeng L; Magliocco, Anthony M AM; Martin, Lynn L; McEvoy, Mark M; , ; Olson, Sara H SH; Orlow, Irene I; Pooler, Loreall L; Prescott, Jennifer J; Rastogi, Radhai R; Rebbeck, Timothy R TR; Risch, Harvey H; Sacerdote, Carlotta C; Schumacher, Frederick F; Wendy Setiawan, Veronica V; Scott, Rodney J RJ; Sheng, Xin X; Shu, Xiao-Ou XO; Turman, Constance C; Van Den Berg, David D; Wang, Zhaoming Z; Weiss, Noel S NS; Wentzensen, Nicholas N; Xia, Lucy L; Xiang, Yong-Bing YB; Yang, Hannah P HP; Yu, Herbert H; Zheng, Wei W; Pharoah, Paul D P PD; Dunning, Alison M AM; Tomlinson, Ian I; Easton, Douglas F DF; Kraft, Peter P; Spurdle, Amanda B AB; De Vivo, Immaculata I
Publication Date: 2016-06-15

Variant appearance in text: rs4510656
PubMed Link: 27008869
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry.

Human Molecular Genetics
Figueroa, Jonine D JD; Middlebrooks, Candace D CD; Banday, A Rouf AR; Ye, Yuanqing Y; Garcia-Closas, Montserrat M; Chatterjee, Nilanjan N; Koutros, Stella S; Kiemeney, Lambertus A LA; Rafnar, Thorunn T; Bishop, Timothy T; Furberg, Helena H; Matullo, Giuseppe G; Golka, Klaus K; Gago-Dominguez, Manuela M; Taylor, Jack A JA; Fletcher, Tony T; Siddiq, Afshan A; Cortessis, Victoria K VK; Kooperberg, Charles C; Cussenot, Olivier O; Benhamou, Simone S; Prescott, Jennifer J; Porru, Stefano S; Dinney, Colin P CP; Malats, Núria N; Baris, Dalsu D; Purdue, Mark P MP; Jacobs, Eric J EJ; Albanes, Demetrius D; Wang, Zhaoming Z; Chung, Charles C CC; Vermeulen, Sita H SH; Aben, Katja K KK; Galesloot, Tessel E TE; Thorleifsson, Gudmar G; Sulem, Patrick P; Stefansson, Kari K; Kiltie, Anne E AE; Harland, Mark M; Teo, Mark M; Offit, Kenneth K; Vijai, Joseph J; Bajorin, Dean D; Kopp, Ryan R; Fiorito, Giovanni G; Guarrera, Simonetta S; Sacerdote, Carlotta C; Selinski, Silvia S; Hengstler, Jan G JG; Gerullis, Holger H; Ovsiannikov, Daniel D; Blaszkewicz, Meinolf M; Castelao, Jose Esteban JE; Calaza, Manuel M; Martinez, Maria Elena ME; Cordeiro, Patricia P; Xu, Zongli Z; Panduri, Vijayalakshmi V; Kumar, Rajiv R; Gurzau, Eugene E; Koppova, Kvetoslava K; Bueno-De-Mesquita, H Bas HB; Ljungberg, Börje B; Clavel-Chapelon, Françoise F; Weiderpass, Elisabete E; Krogh, Vittorio V; Dorronsoro, Miren M; Travis, Ruth C RC; Tjønneland, Anne A; Brennan, Paul P; Chang-Claude, Jenny J; Riboli, Elio E; Conti, David D; Stern, Marianna C MC; Pike, Malcolm C MC; Van Den Berg, David D; Yuan, Jian-Min JM; Hohensee, Chancellor C; Jeppson, Rebecca P RP; Cancel-Tassin, Geraldine G; Roupret, Morgan M; Comperat, Eva E; Turman, Constance C; De Vivo, Immaculata I; Giovannucci, Edward E; Hunter, David J DJ; Kraft, Peter P; Lindstrom, Sara S; Carta, Angela A; Pavanello, Sofia S; Arici, Cecilia C; Mastrangelo, Giuseppe G; Kamat, Ashish M AM; Zhang, Liren L; Gong, Yilei Y; Pu, Xia X; Hutchinson, Amy A; Burdett, Laurie L; Wheeler, William A WA; Karagas, Margaret R MR; Johnson, Alison A; Schned, Alan A; Monawar Hosain, G M GM; Schwenn, Molly M; Kogevinas, Manolis M; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; García-Closas, Reina R; Lloreta, Josep J; Andriole, Gerald G; Grubb, Robert R; Black, Amanda A; Diver, W Ryan WR; Gapstur, Susan M SM; Weinstein, Stephanie S; Virtamo, Jarmo J; Haiman, Christopher A CA; Landi, Maria Teresa MT; Caporaso, Neil E NE; Fraumeni, Joseph F JF; Vineis, Paolo P; Wu, Xifeng X; Chanock, Stephen J SJ; Silverman, Debra T DT; Prokunina-Olsson, Ludmila L; Rothman, Nathaniel N
Publication Date: 2016-03-15

Variant appearance in text: rs4510656
PubMed Link: 26732427
Variant Present in the following documents:
  • Main text
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Modification of Occupational Exposures on Bladder Cancer Risk by Common Genetic Polymorphisms.

Journal Of The National Cancer Institute
Figueroa, Jonine D JD; Koutros, Stella S; Colt, Joanne S JS; Kogevinas, Manolis M; Garcia-Closas, Montserrat M; Real, Francisco X FX; Friesen, Melissa C MC; Baris, Dalsu D; Stewart, Patricia P; Schwenn, Molly M; Johnson, Alison A; Karagas, Margaret R MR; Armenti, Karla R KR; Moore, Lee E LE; Schned, Alan A; Lenz, Petra P; Prokunina-Olsson, Ludmila L; Banday, A Rouf AR; Paquin, Ashley A; Ylaya, Kris K; Chung, Joon-Yong JY; Hewitt, Stephen M SM; Nickerson, Michael L ML; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; García-Closas, Reina R; Lloreta, Josep J; Malats, Núria N; Fraumeni, Joseph F JF; Chanock, Stephen J SJ; Chatterjee, Nilanjan N; Rothman, Nathaniel N; Silverman, Debra T DT
Publication Date: 2015-11

Variant appearance in text: rs4510656
PubMed Link: 26374428
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies multiple loci associated with bladder cancer risk.

Human Molecular Genetics
Figueroa, Jonine D JD; Ye, Yuanqing Y; Siddiq, Afshan A; Garcia-Closas, Montserrat M; Chatterjee, Nilanjan N; Prokunina-Olsson, Ludmila L; Cortessis, Victoria K VK; Kooperberg, Charles C; Cussenot, Olivier O; Benhamou, Simone S; Prescott, Jennifer J; Porru, Stefano S; Dinney, Colin P CP; Malats, Núria N; Baris, Dalsu D; Purdue, Mark M; Jacobs, Eric J EJ; Albanes, Demetrius D; Wang, Zhaoming Z; Deng, Xiang X; Chung, Charles C CC; Tang, Wei W; Bas Bueno-de-Mesquita, H H; Trichopoulos, Dimitrios D; Ljungberg, Börje B; Clavel-Chapelon, Françoise F; Weiderpass, Elisabete E; Krogh, Vittorio V; Dorronsoro, Miren M; Travis, Ruth R; Tjønneland, Anne A; Brenan, Paul P; Chang-Claude, Jenny J; Riboli, Elio E; Conti, David D; Gago-Dominguez, Manuela M; Stern, Mariana C MC; Pike, Malcolm C MC; Van Den Berg, David D; Yuan, Jian-Min JM; Hohensee, Chancellor C; Rodabough, Rebecca R; Cancel-Tassin, Geraldine G; Roupret, Morgan M; Comperat, Eva E; Chen, Constance C; De Vivo, Immaculata I; Giovannucci, Edward E; Hunter, David J DJ; Kraft, Peter P; Lindstrom, Sara S; Carta, Angela A; Pavanello, Sofia S; Arici, Cecilia C; Mastrangelo, Giuseppe G; Kamat, Ashish M AM; Lerner, Seth P SP; Barton Grossman, H H; Lin, Jie J; Gu, Jian J; Pu, Xia X; Hutchinson, Amy A; Burdette, Laurie L; Wheeler, William W; Kogevinas, Manolis M; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; García-Closas, Reina R; Lloreta, Josep J; Schwenn, Molly M; Karagas, Margaret R MR; Johnson, Alison A; Schned, Alan A; Armenti, Karla R KR; Hosain, G M GM; Andriole, Gerald G; Grubb, Robert R; Black, Amanda A; Ryan Diver, W W; Gapstur, Susan M SM; Weinstein, Stephanie J SJ; Virtamo, Jarmo J; Haiman, Chris A CA; Landi, Maria T MT; Caporaso, Neil N; Fraumeni, Joseph F JF; Vineis, Paolo P; Wu, Xifeng X; Silverman, Debra T DT; Chanock, Stephen S; Rothman, Nathaniel N
Publication Date: 2014-03-01

Variant appearance in text: rs4510656
PubMed Link: 24163127
Variant Present in the following documents:
  • Main text
View BVdb publication page