CDK10 c.160+171A>T

Variant ID: 16-89755903-A-T

NM_052988.4(CDK10):c.160+171A>T

This variant was identified in 43 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: rs258322
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



A systematic review of skin ageing genes: gene pleiotropy and genes on the chromosomal band 16q24.3 may drive skin ageing.

Scientific Reports
Ng, Jun Yan JY; Chew, Fook Tim FT
Publication Date: 2022-07-30

Variant appearance in text: rs258322
PubMed Link: 35907981
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_17443.pdf
View BVdb publication page



Cutaneous Squamous Cell Carcinoma Arising in Immunosuppressed Patients: A Systematic Review of Tumor Profiling Studies.

Jid Innovations : Skin Science From Molecules To Population Health
Blue, Elliot D ED; Freeman, S Caleb SC; Lobl, Marissa B MB; Clarey, Dillon D DD; Fredrick, Rose L RL; Wysong, Ashley A; Whitley, Melodi Javid MJ
Publication Date: 2022-07

Variant appearance in text: rs258322
PubMed Link: 35620703
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.

Communications Biology
Kim, Yuhree Y; Yin, Jie J; Huang, Hailiang H; Jorgenson, Eric E; Choquet, Hélène H; Asgari, Maryam M MM
Publication Date: 2022-04-21

Variant appearance in text: rs258322
PubMed Link: 35449187
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3301.pdf
View BVdb publication page



A large Canadian cohort provides insights into the genetic architecture of human hair colour.

Communications Biology
Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ
Publication Date: 2021-11-04

Variant appearance in text: rs258322
PubMed Link: 34737440
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2764.pdf
  • 42003_2021_2764_MOESM2_ESM.pdf
View BVdb publication page



Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer.

Pigment Cell & Melanoma Research
Bonilla, Carolina C; Bertoni, Bernardo B; Min, Josine L JL; Hemani, Gibran G; , ; Elliott, Hannah R HR
Publication Date: 2021-09

Variant appearance in text: rs258322
PubMed Link: 33248005
Variant Present in the following documents:
  • Main text
  • PCMR-34-892-s002.xlsx, sheet 7
  • PCMR-34-892.pdf
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Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits.

Journal Of Medical Genetics
Di Giovannantonio, Matteo M; Harris, Benjamin Hl BH; Zhang, Ping P; Kitchen-Smith, Isaac I; Xiong, Lingyun L; Sahgal, Natasha N; Stracquadanio, Giovanni G; Wallace, Marsha M; Blagden, Sarah S; Lord, Simon S; Harris, David D; Harris, Adrian H L AHL; Buffa, Francesca M FM; Bond, Gareth L GL
Publication Date: 2021-06

Variant appearance in text: rs258322
PubMed Link: 32591342
Variant Present in the following documents:
  • Main text
  • jmedgenet-2019-106799.pdf
View BVdb publication page



A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Nature Communications
Adhikari, Kaustubh K; Mendoza-Revilla, Javier J; Sohail, Anood A; Fuentes-Guajardo, Macarena M; Lampert, Jodie J; Chacón-Duque, Juan Camilo JC; Hurtado, Malena M; Villegas, Valeria V; Granja, Vanessa V; Acuña-Alonzo, Victor V; Jaramillo, Claudia C; Arias, William W; Lozano, Rodrigo Barquera RB; Everardo, Paola P; Gómez-Valdés, Jorge J; Villamil-Ramírez, Hugo H; Silva de Cerqueira, Caio C CC; Hunemeier, Tábita T; Ramallo, Virginia V; Schuler-Faccini, Lavinia L; Salzano, Francisco M FM; Gonzalez-José, Rolando R; Bortolini, Maria-Cátira MC; Canizales-Quinteros, Samuel S; Gallo, Carla C; Poletti, Giovanni G; Bedoya, Gabriel G; Rothhammer, Francisco F; Tobin, Desmond J DJ; Fumagalli, Matteo M; Balding, David D; Ruiz-Linares, Andrés A
Publication Date: 2019-01-21

Variant appearance in text: rs258322
PubMed Link: 30664655
Variant Present in the following documents:
  • 41467_2018_8147_MOESM1_ESM.pdf
View BVdb publication page



The digital age of melanoma management: detection and diagnostics.

Melanoma Management
Fogel, Alexander L AL; Sarin, Kavita K
Publication Date: 2015-11

Variant appearance in text: rs258322
PubMed Link: 30190865
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

Journal Of Medical Genetics
Galván-Femenía, Iván I; Obón-Santacana, Mireia M; Piñeyro, David D; Guindo-Martinez, Marta M; Duran, Xavier X; Carreras, Anna A; Pluvinet, Raquel R; Velasco, Juan J; Ramos, Laia L; Aussó, Susanna S; Mercader, J M JM; Puig, Lluis L; Perucho, Manuel M; Torrents, David D; Moreno, Victor V; Sumoy, Lauro L; de Cid, Rafael R
Publication Date: 2018-11

Variant appearance in text: rs258322
PubMed Link: 30166351
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Nature Genetics
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
Publication Date: 2018-05

Variant appearance in text: rs258322
PubMed Link: 29662168
Variant Present in the following documents:
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs258322
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma.

The Journal Of Investigative Dermatology
Roos, Leonie L; Sandling, Johanna K JK; Bell, Christopher G CG; Glass, Daniel D; Mangino, Massimo M; Spector, Tim D TD; Deloukas, Panos P; Bataille, Veronique V; Bell, Jordana T JT
Publication Date: 2017-04

Variant appearance in text: rs258322
PubMed Link: 27993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

Nature Communications
Pattaro, Cristian C; Teumer, Alexander A; Gorski, Mathias M; Chu, Audrey Y AY; Li, Man M; Mijatovic, Vladan V; Garnaas, Maija M; Tin, Adrienne A; Sorice, Rossella R; Li, Yong Y; Taliun, Daniel D; Olden, Matthias M; Foster, Meredith M; Yang, Qiong Q; Chen, Ming-Huei MH; Pers, Tune H TH; Johnson, Andrew D AD; Ko, Yi-An YA; Fuchsberger, Christian C; Tayo, Bamidele B; Nalls, Michael M; Feitosa, Mary F MF; Isaacs, Aaron A; Dehghan, Abbas A; d'Adamo, Pio P; Adeyemo, Adebowale A; Dieffenbach, Aida Karina AK; Zonderman, Alan B AB; Nolte, Ilja M IM; van der Most, Peter J PJ; Wright, Alan F AF; Shuldiner, Alan R AR; Morrison, Alanna C AC; Hofman, Albert A; Smith, Albert V AV; Dreisbach, Albert W AW; Franke, Andre A; Uitterlinden, Andre G AG; Metspalu, Andres A; Tonjes, Anke A; Lupo, Antonio A; Robino, Antonietta A; Johansson, Åsa Å; Demirkan, Ayse A; Kollerits, Barbara B; Freedman, Barry I BI; Ponte, Belen B; Oostra, Ben A BA; Paulweber, Bernhard B; Krämer, Bernhard K BK; Mitchell, Braxton D BD; Buckley, Brendan M BM; Peralta, Carmen A CA; Hayward, Caroline C; Helmer, Catherine C; Rotimi, Charles N CN; Shaffer, Christian M CM; Müller, Christian C; Sala, Cinzia C; van Duijn, Cornelia M CM; Saint-Pierre, Aude A; Ackermann, Daniel D; Shriner, Daniel D; Ruggiero, Daniela D; Toniolo, Daniela D; Lu, Yingchang Y; Cusi, Daniele D; Czamara, Darina D; Ellinghaus, David D; Siscovick, David S DS; Ruderfer, Douglas D; Gieger, Christian C; Grallert, Harald H; Rochtchina, Elena E; Atkinson, Elizabeth J EJ; Holliday, Elizabeth G EG; Boerwinkle, Eric E; Salvi, Erika E; Bottinger, Erwin P EP; Murgia, Federico F; Rivadeneira, Fernando F; Ernst, Florian F; Kronenberg, Florian F; Hu, Frank B FB; Navis, Gerjan J GJ; Curhan, Gary C GC; Ehret, George B GB; Homuth, Georg G; Coassin, Stefan S; Thun, Gian-Andri GA; Pistis, Giorgio G; Gambaro, Giovanni G; Malerba, Giovanni G; Montgomery, Grant W GW; Eiriksdottir, Gudny G; Jacobs, Gunnar G; Li, Guo G; Wichmann, H-Erich HE; Campbell, Harry H; Schmidt, Helena H; Wallaschofski, Henri H; Völzke, Henry H; Brenner, Hermann H; Kroemer, Heyo K HK; Kramer, Holly H; Lin, Honghuang H; Leach, I Mateo IM; Ford, Ian I; Guessous, Idris I; Rudan, Igor I; Prokopenko, Inga I; Borecki, Ingrid I; Heid, Iris M IM; Kolcic, Ivana I; Persico, Ivana I; Jukema, J Wouter JW; Wilson, James F JF; Felix, Janine F JF; Divers, Jasmin J; Lambert, Jean-Charles JC; Stafford, Jeanette M JM; Gaspoz, Jean-Michel JM; Smith, Jennifer A JA; Faul, Jessica D JD; Wang, Jie Jin JJ; Ding, Jingzhong J; Hirschhorn, Joel N JN; Attia, John J; Whitfield, John B JB; Chalmers, John J; Viikari, Jorma J; Coresh, Josef J; Denny, Joshua C JC; Karjalainen, Juha J; Fernandes, Jyotika K JK; Endlich, Karlhans K; Butterbach, Katja K; Keene, Keith L KL; Lohman, Kurt K; Portas, Laura L; Launer, Lenore J LJ; Lyytikäinen, Leo-Pekka LP; Yengo, Loic L; Franke, Lude L; Ferrucci, Luigi L; Rose, Lynda M LM; Kedenko, Lyudmyla L; Rao, Madhumathi M; Struchalin, Maksim M; Kleber, Marcus E ME; Cavalieri, Margherita M; Haun, Margot M; Cornelis, Marilyn C MC; Ciullo, Marina M; Pirastu, Mario M; de Andrade, Mariza M; McEvoy, Mark A MA; Woodward, Mark M; Adam, Martin M; Cocca, Massimiliano M; Nauck, Matthias M; Imboden, Medea M; Waldenberger, Melanie M; Pruijm, Menno M; Metzger, Marie M; Stumvoll, Michael M; Evans, Michele K MK; Sale, Michele M MM; Kähönen, Mika M; Boban, Mladen M; Bochud, Murielle M; Rheinberger, Myriam M; Verweij, Niek N; Bouatia-Naji, Nabila N; Martin, Nicholas G NG; Hastie, Nick N; Probst-Hensch, Nicole N; Soranzo, Nicole N; Devuyst, Olivier O; Raitakari, Olli O; Gottesman, Omri O; Franco, Oscar H OH; Polasek, Ozren O; Gasparini, Paolo P; Munroe, Patricia B PB; Ridker, Paul M PM; Mitchell, Paul P; Muntner, Paul P; Meisinger, Christa C; Smit, Johannes H JH; , ; , ; , ; , ; , ; Kovacs, Peter P; Wild, Philipp S PS; Froguel, Philippe P; Rettig, Rainer R; Mägi, Reedik R; Biffar, Reiner R; Schmidt, Reinhold R; Middelberg, Rita P S RP; Carroll, Robert J RJ; Penninx, Brenda W BW; Scott, Rodney J RJ; Katz, Ronit R; Sedaghat, Sanaz S; Wild, Sarah H SH; Kardia, Sharon L R SL; Ulivi, Sheila S; Hwang, Shih-Jen SJ; Enroth, Stefan S; Kloiber, Stefan S; Trompet, Stella S; Stengel, Benedicte B; Hancock, Stephen J SJ; Turner, Stephen T ST; Rosas, Sylvia E SE; Stracke, Sylvia S; Harris, Tamara B TB; Zeller, Tanja T; Zemunik, Tatijana T; Lehtimäki, Terho T; Illig, Thomas T; Aspelund, Thor T; Nikopensius, Tiit T; Esko, Tonu T; Tanaka, Toshiko T; Gyllensten, Ulf U; Völker, Uwe U; Emilsson, Valur V; Vitart, Veronique V; Aalto, Ville V; Gudnason, Vilmundur V; Chouraki, Vincent V; Chen, Wei-Min WM; Igl, Wilmar W; März, Winfried W; Koenig, Wolfgang W; Lieb, Wolfgang W; Loos, Ruth J F RJ; Liu, Yongmei Y; Snieder, Harold H; Pramstaller, Peter P PP; Parsa, Afshin A; O'Connell, Jeffrey R JR; Susztak, Katalin K; Hamet, Pavel P; Tremblay, Johanne J; de Boer, Ian H IH; Böger, Carsten A CA; Goessling, Wolfram W; Chasman, Daniel I DI; Köttgen, Anna A; Kao, W H Linda WH; Fox, Caroline S CS
Publication Date: 2016-01-21

Variant appearance in text: rs258322
PubMed Link: 26831199
Variant Present in the following documents:
  • ncomms10023-s1.pdf
View BVdb publication page



Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

The Journal Of Investigative Dermatology
Asgari, Maryam M MM; Wang, Wei W; Ioannidis, Nilah M NM; Itnyre, Jacqueline J; Hoffmann, Thomas T; Jorgenson, Eric E; Whittemore, Alice S AS
Publication Date: 2016-05

Variant appearance in text: rs258322
PubMed Link: 26829030
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and Genetic Factors Associated with Cutaneous Squamous Cell Carcinoma in Kidney and Heart Transplant Recipients.

Transplantation Direct
Sanders, M Lee ML; Karnes, Jason H JH; Denny, Josh C JC; Roden, Dan M DM; Ikizler, T Alp TA; Birdwell, Kelly A KA
Publication Date: 2015-05

Variant appearance in text: rs258322
PubMed Link: 26146661
Variant Present in the following documents:
  • Main text
View BVdb publication page



Addressing population-specific multiple testing burdens in genetic association studies.

Annals Of Human Genetics
Sobota, Rafal S RS; Shriner, Daniel D; Kodaman, Nuri N; Goodloe, Robert R; Zheng, Wei W; Gao, Yu-Tang YT; Edwards, Todd L TL; Amos, Christopher I CI; Williams, Scott M SM
Publication Date: 2015-03

Variant appearance in text: rs258322
PubMed Link: 25644736
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Web-based database of genetic association studies in cutaneous melanoma enhanced with network-driven data exploration tools.

Database : The Journal Of Biological Databases And Curation
Athanasiadis, Emmanouil I EI; Antonopoulou, Kyriaki K; Chatzinasiou, Foteini F; Lill, Christina M CM; Bourdakou, Marilena M MM; Sakellariou, Argiris A; Kypreou, Katerina K; Stefanaki, Irene I; Evangelou, Evangelos E; Ioannidis, John P A JP; Bertram, Lars L; Stratigos, Alexander J AJ; Spyrou, George M GM
Publication Date: 2014

Variant appearance in text: rs258322
PubMed Link: 25380778
Variant Present in the following documents:
  • bau101.pdf
View BVdb publication page



The effect on melanoma risk of genes previously associated with telomere length.

Journal Of The National Cancer Institute
Iles, Mark M MM; Bishop, D Timothy DT; Taylor, John C JC; Hayward, Nicholas K NK; Brossard, Myriam M; Cust, Anne E AE; Dunning, Alison M AM; Lee, Jeffrey E JE; Moses, Eric K EK; Akslen, Lars A LA; , ; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Scarrà, Giovanna Bianchi GB; Brown, Kevin M KM; Dębniak, Tadeusz T; Elder, David E DE; Friedman, Eitan E; Ghiorzo, Paola P; Gillanders, Elizabeth M EM; Goldstein, Alisa M AM; Gruis, Nelleke A NA; Hansson, Johan J; Harland, Mark M; Helsing, Per P; Hočevar, Marko M; Höiom, Veronica V; , ; Ingvar, Christian C; Kanetsky, Peter A PA; Landi, Maria Teresa MT; Lang, Julie J; Lathrop, G Mark GM; Lubiński, Jan J; Mackie, Rona M RM; Martin, Nicholas G NG; Molven, Anders A; Montgomery, Grant W GW; Novaković, Srdjan S; Olsson, Håkan H; Puig, Susana S; Puig-Butille, Joan Anton JA; , ; Radford-Smith, Graham L GL; Randerson-Moor, Juliette J; , ; van der Stoep, Nienke N; van Doorn, Remco R; Whiteman, David C DC; MacGregor, Stuart S; Pooley, Karen A KA; Ward, Sarah V SV; Mann, Graham J GJ; Amos, Christopher I CI; Pharoah, Paul D P PD; Demenais, Florence F; Law, Matthew H MH; Newton Bishop, Julia A JA; Barrett, Jennifer H JH; ,
Publication Date: 2014-10

Variant appearance in text: rs258322
PubMed Link: 25231748
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions.

International Journal Of Cancer
Barrett, Jennifer H JH; Taylor, John C JC; Bright, Chloe C; Harland, Mark M; Dunning, Alison M AM; Akslen, Lars A LA; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Bianchi Scarrà, Giovanna G; Brossard, Myriam M; Brown, Kevin M KM; Dębniak, Tadeusz T; Elder, David E DE; Friedman, Eitan E; Ghiorzo, Paola P; Gillanders, Elizabeth M EM; Gruis, Nelleke A NA; Hansson, Johan J; Helsing, Per P; Hočevar, Marko M; Höiom, Veronica V; Ingvar, Christian C; Landi, Maria Teresa MT; Lang, Julie J; Lathrop, G Mark GM; Lubiński, Jan J; Mackie, Rona M RM; Molven, Anders A; Novaković, Srdjan S; Olsson, Håkan H; Puig, Susana S; Puig-Butille, Joan Anton JA; van der Stoep, Nienke N; van Doorn, Remco R; van Workum, Wilbert W; Goldstein, Alisa M AM; Kanetsky, Peter A PA; Pharoah, Paul D P PD; Demenais, Florence F; Hayward, Nicholas K NK; Newton Bishop, Julia A JA; Bishop, D Timothy DT; Iles, Mark M MM; ,
Publication Date: 2015-03-15

Variant appearance in text: rs258322
PubMed Link: 25077817
Variant Present in the following documents:
  • Main text
  • ijc0136-1351.pdf
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Identification of a melanoma susceptibility locus and somatic mutation in TET2.

Carcinogenesis
Song, Fengju F; Amos, Christopher I CI; Lee, Jeffrey E JE; Lian, Christine G CG; Fang, Shenying S; Liu, Hongliang H; MacGregor, Stuart S; Iles, Mark M MM; Law, Matthew H MH; Lindeman, Neal I NI; Montgomery, Grant W GW; Duffy, David L DL; Cust, Anne E AE; Jenkins, Mark A MA; Whiteman, David C DC; Kefford, Richard F RF; Giles, Graham G GG; Armstrong, Bruce K BK; Aitken, Joanne F JF; Hopper, John L JL; Brown, Kevin M KM; Martin, Nicholas G NG; Mann, Graham J GJ; Bishop, D Timothy DT; Bishop, Julia A Newton JA; , ; Kraft, Peter P; Qureshi, Abrar A AA; Kanetsky, Peter A PA; Hayward, Nicholas K NK; Hunter, David J DJ; Wei, Qingyi Q; Han, Jiali J
Publication Date: 2014-09

Variant appearance in text: rs258322
PubMed Link: 24980573
Variant Present in the following documents:
  • Main text
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Variants associated with susceptibility to pancreatic cancer and melanoma do not reciprocally affect risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wu, Lang L; Goldstein, Alisa M AM; Yu, Kai K; Yang, Xiaohong Rose XR; Rabe, Kari G KG; Arslan, Alan A AA; Canzian, Federico F; Wolpin, Brian M BM; Stolzenberg-Solomon, Rachael R; Amundadottir, Laufey T LT; Petersen, Gloria M GM
Publication Date: 2014-06

Variant appearance in text: rs258322
PubMed Link: 24642353
Variant Present in the following documents:
  • Main text
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Replication of associations between GWAS SNPs and melanoma risk in the Population Architecture Using Genomics and Epidemiology (PAGE) Study.

The Journal Of Investigative Dermatology
Kocarnik, Jonathan M JM; Park, Sungshim Lani SL; Han, Jiali J; Dumitrescu, Logan L; Cheng, Iona I; Wilkens, Lynne R LR; Schumacher, Fredrick R FR; Kolonel, Laurence L; Carlson, Chris S CS; Crawford, Dana C DC; Goodloe, Robert J RJ; Dilks, Holli H; Baker, Paxton P; Richardson, Danielle D; Ambite, José Luis JL; Song, Fengju F; Quresh, Abrar A AA; Zhang, Mingfeng M; Duggan, David D; Hutter, Carolyn C; Hindorff, Lucia A LA; Bush, William S WS; Kooperberg, Charles C; Le Marchand, Loic L; Peters, Ulrike U
Publication Date: 2014-07

Variant appearance in text: rs258322
PubMed Link: 24480881
Variant Present in the following documents:
  • Main text
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Joint effect of multiple common SNPs predicts melanoma susceptibility.

Plos One
Fang, Shenying S; Han, Jiali J; Zhang, Mingfeng M; Wang, Li-e LE; Wei, Qingyi Q; Amos, Christopher I CI; Lee, Jeffrey E JE
Publication Date: 2013

Variant appearance in text: rs258322
PubMed Link: 24392023
Variant Present in the following documents:
  • Main text
  • pone.0085642.pdf
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Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Nature Biotechnology
Denny, Joshua C JC; Bastarache, Lisa L; Ritchie, Marylyn D MD; Carroll, Robert J RJ; Zink, Raquel R; Mosley, Jonathan D JD; Field, Julie R JR; Pulley, Jill M JM; Ramirez, Andrea H AH; Bowton, Erica E; Basford, Melissa A MA; Carrell, David S DS; Peissig, Peggy L PL; Kho, Abel N AN; Pacheco, Jennifer A JA; Rasmussen, Luke V LV; Crosslin, David R DR; Crane, Paul K PK; Pathak, Jyotishman J; Bielinski, Suzette J SJ; Pendergrass, Sarah A SA; Xu, Hua H; Hindorff, Lucia A LA; Li, Rongling R; Manolio, Teri A TA; Chute, Christopher G CG; Chisholm, Rex L RL; Larson, Eric B EB; Jarvik, Gail P GP; Brilliant, Murray H MH; McCarty, Catherine A CA; Kullo, Iftikhar J IJ; Haines, Jonathan L JL; Crawford, Dana C DC; Masys, Daniel R DR; Roden, Dan M DM
Publication Date: 2013-12

Variant appearance in text: rs258322
PubMed Link: 24270849
Variant Present in the following documents:
  • Main text
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Update on the Epidemiology of Melanoma.

Current Dermatology Reports
Chen, Steven T ST; Geller, Alan C AC; Tsao, Hensin H
Publication Date: 2013-03-01

Variant appearance in text: rs258322
PubMed Link: 23580930
Variant Present in the following documents:
  • Main text
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Replication and predictive value of SNPs associated with melanoma and pigmentation traits in a Southern European case-control study.

Plos One
Stefanaki, Irene I; Panagiotou, Orestis A OA; Kodela, Elisavet E; Gogas, Helen H; Kypreou, Katerina P KP; Chatzinasiou, Foteini F; Nikolaou, Vasiliki V; Plaka, Michaela M; Kalfa, Iro I; Antoniou, Christina C; Ioannidis, John P A JP; Evangelou, Evangelos E; Stratigos, Alexander J AJ
Publication Date: 2013

Variant appearance in text: rs258322
PubMed Link: 23393597
Variant Present in the following documents:
  • Main text
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Variants affecting exon skipping contribute to complex traits.

Plos Genetics
Lee, Younghee Y; Gamazon, Eric R ER; Rebman, Ellen E; Lee, Yeunsook Y; Lee, Sanghyuk S; Dolan, M Eileen ME; Cox, Nancy J NJ; Lussier, Yves A YA
Publication Date: 2012

Variant appearance in text: rs258322
PubMed Link: 23133393
Variant Present in the following documents:
  • Main text
  • pgen.1002998.pdf
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A subset-based approach improves power and interpretation for the combined analysis of genetic association studies of heterogeneous traits.

American Journal Of Human Genetics
Bhattacharjee, Samsiddhi S; Rajaraman, Preetha P; Jacobs, Kevin B KB; Wheeler, William A WA; Melin, Beatrice S BS; Hartge, Patricia P; , ; Yeager, Meredith M; Chung, Charles C CC; Chanock, Stephen J SJ; Chatterjee, Nilanjan N
Publication Date: 2012-05-04

Variant appearance in text: rs258322
PubMed Link: 22560090
Variant Present in the following documents:
  • Main text
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Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example.

Plos One
Liu, Fan F; Struchalin, Maksim V MV; Duijn, Kate van Kv; Hofman, Albert A; Uitterlinden, André G AG; Duijn, Cornelia van Cv; Aulchenko, Yurii S YS; Kayser, Manfred M
Publication Date: 2011

Variant appearance in text: rs258322
PubMed Link: 22140526
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Genome-wide association study identifies three new melanoma susceptibility loci.

Nature Genetics
Barrett, Jennifer H JH; Iles, Mark M MM; Harland, Mark M; Taylor, John C JC; Aitken, Joanne F JF; Andresen, Per Arne PA; Akslen, Lars A LA; Armstrong, Bruce K BK; Avril, Marie-Francoise MF; Azizi, Esther E; Bakker, Bert B; Bergman, Wilma W; Bianchi-Scarrà, Giovanna G; Bressac-de Paillerets, Brigitte B; Calista, Donato D; Cannon-Albright, Lisa A LA; Corda, Eve E; Cust, Anne E AE; Dębniak, Tadeusz T; Duffy, David D; Dunning, Alison M AM; Easton, Douglas F DF; Friedman, Eitan E; Galan, Pilar P; Ghiorzo, Paola P; Giles, Graham G GG; Hansson, Johan J; Hocevar, Marko M; Höiom, Veronica V; Hopper, John L JL; Ingvar, Christian C; Janssen, Bart B; Jenkins, Mark A MA; Jönsson, Göran G; Kefford, Richard F RF; Landi, Giorgio G; Landi, Maria Teresa MT; Lang, Julie J; Lubiński, Jan J; Mackie, Rona R; Malvehy, Josep J; Martin, Nicholas G NG; Molven, Anders A; Montgomery, Grant W GW; van Nieuwpoort, Frans A FA; Novakovic, Srdjan S; Olsson, Håkan H; Pastorino, Lorenza L; Puig, Susana S; Puig-Butille, Joan Anton JA; Randerson-Moor, Juliette J; Snowden, Helen H; Tuominen, Rainer R; Van Belle, Patricia P; van der Stoep, Nienke N; Whiteman, David C DC; Zelenika, Diana D; Han, Jiali J; Fang, Shenying S; Lee, Jeffrey E JE; Wei, Qingyi Q; Lathrop, G Mark GM; Gillanders, Elizabeth M EM; Brown, Kevin M KM; Goldstein, Alisa M AM; Kanetsky, Peter A PA; Mann, Graham J GJ; Macgregor, Stuart S; Elder, David E DE; Amos, Christopher I CI; Hayward, Nicholas K NK; Gruis, Nelleke A NA; Demenais, Florence F; Bishop, Julia A Newton JA; Bishop, D Timothy DT; ,
Publication Date: 2011-10-09

Variant appearance in text: rs258322
PubMed Link: 21983787
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Comprehensive field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma.

Journal Of The National Cancer Institute
Chatzinasiou, Foteini F; Lill, Christina M CM; Kypreou, Katerina K; Stefanaki, Irene I; Nicolaou, Vasiliki V; Spyrou, George G; Evangelou, Evangelos E; Roehr, Johannes T JT; Kodela, Elizabeth E; Katsambas, Andreas A; Tsao, Hensin H; Ioannidis, John P A JP; Bertram, Lars L; Stratigos, Alexander J AJ
Publication Date: 2011-08-17

Variant appearance in text: rs258322
PubMed Link: 21693730
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[Recent progress in genetic variants associated with cancer and their implications in diagnostics development].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer
Cho, William C S WC
Publication Date: 2011-01

Variant appearance in text: rs258322
PubMed Link: 21219822
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A versatile gene-based test for genome-wide association studies.

American Journal Of Human Genetics
Liu, Jimmy Z JZ; McRae, Allan F AF; Nyholt, Dale R DR; Medland, Sarah E SE; Wray, Naomi R NR; Brown, Kevin M KM; , ; Hayward, Nicholas K NK; Montgomery, Grant W GW; Visscher, Peter M PM; Martin, Nicholas G NG; Macgregor, Stuart S
Publication Date: 2010-07-09

Variant appearance in text: rs258322
PubMed Link: 20598278
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Web-based, participant-driven studies yield novel genetic associations for common traits.

Plos Genetics
Eriksson, Nicholas N; Macpherson, J Michael JM; Tung, Joyce Y JY; Hon, Lawrence S LS; Naughton, Brian B; Saxonov, Serge S; Avey, Linda L; Wojcicki, Anne A; Pe'er, Itsik I; Mountain, Joanna J
Publication Date: 2010-06-24

Variant appearance in text: rs258322
PubMed Link: 20585627
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  • pgen.1000993.s007.pdf
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Genome-wide association studies of cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Stadler, Zsofia K ZK; Thom, Peter P; Robson, Mark E ME; Weitzel, Jeffrey N JN; Kauff, Noah D ND; Hurley, Karen E KE; Devlin, Vincent V; Gold, Bert B; Klein, Robert J RJ; Offit, Kenneth K
Publication Date: 2010-09-20

Variant appearance in text: rs258322
PubMed Link: 20585100
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Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.

Pigment Cell & Melanoma Research
Gerstenblith, Meg R MR; Shi, Jianxin J; Landi, Maria Teresa MT
Publication Date: 2010-10

Variant appearance in text: rs258322
PubMed Link: 20546537
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A compendium of genome-wide associations for cancer: critical synopsis and reappraisal.

Journal Of The National Cancer Institute
Ioannidis, John P A JP; Castaldi, Peter P; Evangelou, Evangelos E
Publication Date: 2010-06-16

Variant appearance in text: rs258322
PubMed Link: 20505153
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Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies.

Genome Medicine
Udayakumar, Durga D; Tsao, Hensin H
Publication Date: 2009-10-27

Variant appearance in text: rs258322
PubMed Link: 19863770
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Genome-wide associations studies for melanoma and nevi.

Pigment Cell & Melanoma Research
Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2009-10

Variant appearance in text: rs258322
PubMed Link: 19686382
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Genome-wide association study identifies three loci associated with melanoma risk.

Nature Genetics
Bishop, D Timothy DT; Demenais, Florence F; Iles, Mark M MM; Harland, Mark M; Taylor, John C JC; Corda, Eve E; Randerson-Moor, Juliette J; Aitken, Joanne F JF; Avril, Marie-Francoise MF; Azizi, Esther E; Bakker, Bert B; Bianchi-Scarrà, Giovanna G; Bressac-de Paillerets, Brigitte B; Calista, Donato D; Cannon-Albright, Lisa A LA; Chin-A-Woeng, Thomas T; Debniak, Tadeusz T; Galore-Haskel, Gilli G; Ghiorzo, Paola P; Gut, Ivo I; Hansson, Johan J; Hocevar, Marko M; Höiom, Veronica V; Hopper, John L JL; Ingvar, Christian C; Kanetsky, Peter A PA; Kefford, Richard F RF; Landi, Maria Teresa MT; Lang, Julie J; Lubiński, Jan J; Mackie, Rona R; Malvehy, Josep J; Mann, Graham J GJ; Martin, Nicholas G NG; Montgomery, Grant W GW; van Nieuwpoort, Frans A FA; Novakovic, Srdjan S; Olsson, Håkan H; Puig, Susana S; Weiss, Marjan M; van Workum, Wilbert W; Zelenika, Diana D; Brown, Kevin M KM; Goldstein, Alisa M AM; Gillanders, Elizabeth M EM; Boland, Anne A; Galan, Pilar P; Elder, David E DE; Gruis, Nelleke A NA; Hayward, Nicholas K NK; Lathrop, G Mark GM; Barrett, Jennifer H JH; Bishop, Julia A Newton JA
Publication Date: 2009-08

Variant appearance in text: rs258322
PubMed Link: 19578364
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Genome-wide association study of tanning phenotype in a population of European ancestry.

The Journal Of Investigative Dermatology
Nan, Hongmei H; Kraft, Peter P; Qureshi, Abrar A AA; Guo, Qun Q; Chen, Constance C; Hankinson, Susan E SE; Hu, Frank B FB; Thomas, Gilles G; Hoover, Robert N RN; Chanock, Stephen S; Hunter, David J DJ; Han, Jiali J
Publication Date: 2009-09

Variant appearance in text: rs258322
PubMed Link: 19340012
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A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

Plos Genetics
Han, Jiali J; Kraft, Peter P; Nan, Hongmei H; Guo, Qun Q; Chen, Constance C; Qureshi, Abrar A; Hankinson, Susan E SE; Hu, Frank B FB; Duffy, David L DL; Zhao, Zhen Zhen ZZ; Martin, Nicholas G NG; Montgomery, Grant W GW; Hayward, Nicholas K NK; Thomas, Gilles G; Hoover, Robert N RN; Chanock, Stephen S; Hunter, David J DJ
Publication Date: 2008-05-16

Variant appearance in text: rs258322
PubMed Link: 18483556
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  • Main text
  • pgen.1000074.pdf
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