PLA2G6 c.209+1754G>A

Variant ID: 22-38563471-C-T

NM_003560.2(PLA2G6):c.209+1754G>A

This variant was identified in 28 publications

View GRCh38 version.




Publications:


Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs132985
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
View BVdb publication page



Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs132985
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
View BVdb publication page



On Naevi and Melanomas: Two Sides of the Same Coin?

Frontiers In Medicine
Lee, Katie J KJ; Janda, Monika M; Stark, Mitchell S MS; Sturm, Richard A RA; Soyer, H Peter HP
Publication Date: 2021

Variant appearance in text: rs132985
PubMed Link: 33681261
Variant Present in the following documents:
  • Main text
  • fmed-08-635316.pdf
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Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Human Molecular Genetics
Mangantig, Ernest E; MacGregor, Stuart S; Iles, Mark M MM; Scolyer, Richard A RA; Cust, Anne E AE; Hayward, Nicholas K NK; Montgomery, Grant W GW; Duffy, David L DL; Thompson, John F JF; Henders, Anjali A; Bowdler, Lisa L; Rowe, Casey C; Cadby, Gemma G; Mann, Graham J GJ; Whiteman, David C DC; Long, Georgina V GV; Ward, Sarah V SV; Khosrotehrani, Kiarash K; Barrett, Jennifer H JH; Law, Matthew H MH
Publication Date: 2021-01-06

Variant appearance in text: rs132985
PubMed Link: 33410475
Variant Present in the following documents:
  • hmg-2020-ez-00182_law_supplementary_table_clean_ddaa222.xlsx, sheet 1
View BVdb publication page



Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wood, Renee P RP; Heyworth, Jane S JS; McCarthy, Nina S NS; Mauguen, Audrey A; Berwick, Marianne M; Thomas, Nancy E NE; Millward, Michael J MJ; Anton-Culver, Hoda H; Cust, Anne E AE; Dwyer, Terence T; Gallagher, Richard P RP; Gruber, Stephen B SB; Kanetsky, Peter A PA; Orlow, Irene I; Rosso, Stefano S; Moses, Eric K EK; Begg, Colin B CB; Ward, Sarah V SV
Publication Date: 2020-11

Variant appearance in text: rs132985
PubMed Link: 32856602
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of Association Between PLA2G6 Genetic Variation and Parkinson's Disease: A Systematic Review.

Neuropsychiatric Disease And Treatment
Liu, Hongmei H; Yao, Yamin Y; Liu, Hongbo H; Peng, Yanmin Y; Ren, Juanjuan J; Wu, Xiaohui X; Mao, Ruizhi R; Zhao, Jie J; Zhu, Yuncheng Y; Niu, Zhiang Z; Yang, Tao T; Sun, Xiujia X; Jiang, Ping P; Zhang, Chen C; Fang, Yiru Y
Publication Date: 2020

Variant appearance in text: rs132985
PubMed Link: 32801710
Variant Present in the following documents:
  • Main text
  • ndt-16-1755.pdf
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Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

Nature Genetics
Landi, Maria Teresa MT; Bishop, D Timothy DT; MacGregor, Stuart S; Machiela, Mitchell J MJ; Stratigos, Alexander J AJ; Ghiorzo, Paola P; Brossard, Myriam M; Calista, Donato D; Choi, Jiyeon J; Fargnoli, Maria Concetta MC; Zhang, Tongwu T; Rodolfo, Monica M; Trower, Adam J AJ; Menin, Chiara C; Martinez, Jacobo J; Hadjisavvas, Andreas A; Song, Lei L; Stefanaki, Irene I; Scolyer, Richard R; Yang, Rose R; Goldstein, Alisa M AM; Potrony, Miriam M; Kypreou, Katerina P KP; Pastorino, Lorenza L; Queirolo, Paola P; Pellegrini, Cristina C; Cattaneo, Laura L; Zawistowski, Matthew M; Gimenez-Xavier, Pol P; Rodriguez, Arantxa A; Elefanti, Lisa L; Manoukian, Siranoush S; Rivoltini, Licia L; Smith, Blair H BH; Loizidou, Maria A MA; Del Regno, Laura L; Massi, Daniela D; Mandala, Mario M; Khosrotehrani, Kiarash K; Akslen, Lars A LA; Amos, Christopher I CI; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Soyer, H Peter HP; Bataille, Veronique V; Dalmasso, Bruna B; Bowdler, Lisa M LM; Burdon, Kathryn P KP; Chen, Wei V WV; Codd, Veryan V; Craig, Jamie E JE; Dębniak, Tadeusz T; Falchi, Mario M; Fang, Shenying S; Friedman, Eitan E; Simi, Sarah S; Galan, Pilar P; Garcia-Casado, Zaida Z; Gillanders, Elizabeth M EM; Gordon, Scott S; Green, Adele A; Gruis, Nelleke A NA; Hansson, Johan J; Harland, Mark M; Harris, Jessica J; Helsing, Per P; Henders, Anjali A; Hočevar, Marko M; Höiom, Veronica V; Hunter, David D; Ingvar, Christian C; Kumar, Rajiv R; Lang, Julie J; Lathrop, G Mark GM; Lee, Jeffrey E JE; Li, Xin X; Lubiński, Jan J; Mackie, Rona M RM; Malt, Maryrose M; Malvehy, Josep J; McAloney, Kerrie K; Mohamdi, Hamida H; Molven, Anders A; Moses, Eric K EK; Neale, Rachel E RE; Novaković, Srdjan S; Nyholt, Dale R DR; Olsson, Håkan H; Orr, Nicholas N; Fritsche, Lars G LG; Puig-Butille, Joan Anton JA; Qureshi, Abrar A AA; Radford-Smith, Graham L GL; Randerson-Moor, Juliette J; Requena, Celia C; Rowe, Casey C; Samani, Nilesh J NJ; Sanna, Marianna M; Schadendorf, Dirk D; Schulze, Hans-Joachim HJ; Simms, Lisa A LA; Smithers, Mark M; Song, Fengju F; Swerdlow, Anthony J AJ; van der Stoep, Nienke N; Kukutsch, Nicole A NA; Visconti, Alessia A; Wallace, Leanne L; Ward, Sarah V SV; Wheeler, Lawrie L; Sturm, Richard A RA; Hutchinson, Amy A; Jones, Kristine K; Malasky, Michael M; Vogt, Aurelie A; Zhou, Weiyin W; Pooley, Karen A KA; Elder, David E DE; Han, Jiali J; Hicks, Belynda B; Hayward, Nicholas K NK; Kanetsky, Peter A PA; Brummett, Chad C; Montgomery, Grant W GW; Olsen, Catherine M CM; Hayward, Caroline C; Dunning, Alison M AM; Martin, Nicholas G NG; Evangelou, Evangelos E; Mann, Graham J GJ; Long, Georgina G; Pharoah, Paul D P PDP; Easton, Douglas F DF; Barrett, Jennifer H JH; Cust, Anne E AE; Abecasis, Goncalo G; Duffy, David L DL; Whiteman, David C DC; Gogas, Helen H; De Nicolo, Arcangela A; Tucker, Margaret A MA; Newton-Bishop, Julia A JA; , ; , ; , ; , ; , ; , ; , ; , ; , ; Peris, Ketty K; Chanock, Stephen J SJ; Demenais, Florence F; Brown, Kevin M KM; Puig, Susana S; Nagore, Eduardo E; Shi, Jianxin J; Iles, Mark M MM; Law, Matthew H MH
Publication Date: 2020-05

Variant appearance in text: rs132985
PubMed Link: 32341527
Variant Present in the following documents:
  • NIHMS1574209-supplement-2.xlsx, sheet 9
View BVdb publication page



Inherited Melanoma Risk Variants Associated with Histopathologically Amelanotic Melanoma.

The Journal Of Investigative Dermatology
Gibbs, David Corley DC; Orlow, Irene I; Vernali, Steven S; Powell, Helen B HB; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Armstrong, Bruce K BK; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2020-04

Variant appearance in text: rs132985
PubMed Link: 31568773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline Variants Impact Somatic Events during Tumorigenesis.

Trends In Genetics : Tig
Ramroop, Johnny R JR; Gerber, Madelyn M MM; Toland, Amanda Ewart AE
Publication Date: 2019-07

Variant appearance in text: rs132985
PubMed Link: 31128889
Variant Present in the following documents:
  • Main text
View BVdb publication page



Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.

Molecular Genetics & Genomic Medicine
Bottega, Roberta R; Cappellani, Stefania S; Fabretto, Antonella A; Spinelli, Alessandro Mauro AM; Severini, Giovanni Maria GM; Aloisio, Michelangelo M; Faleschini, Michela M; Athanasakis, Emmanouil E; Bruno, Irene I; Faletra, Flavio F; Pecile, Vanna V
Publication Date: 2019-03

Variant appearance in text: rs132985
PubMed Link: 30628197
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

Nature Communications
Duffy, David L DL; Zhu, Gu G; Li, Xin X; Sanna, Marianna M; Iles, Mark M MM; Jacobs, Leonie C LC; Evans, David M DM; Yazar, Seyhan S; Beesley, Jonathan J; Law, Matthew H MH; Kraft, Peter P; Visconti, Alessia A; Taylor, John C JC; Liu, Fan F; Wright, Margaret J MJ; Henders, Anjali K AK; Bowdler, Lisa L; Glass, Dan D; Ikram, M Arfan MA; Uitterlinden, André G AG; Madden, Pamela A PA; Heath, Andrew C AC; Nelson, Elliot C EC; Green, Adele C AC; Chanock, Stephen S; Barrett, Jennifer H JH; Brown, Matthew A MA; Hayward, Nicholas K NK; MacGregor, Stuart S; Sturm, Richard A RA; Hewitt, Alex W AW; , ; Kayser, Manfred M; Hunter, David J DJ; Newton Bishop, Julia A JA; Spector, Timothy D TD; Montgomery, Grant W GW; Mackey, David A DA; Smith, George Davey GD; Nijsten, Tamar E TE; Bishop, D Timothy DT; Bataille, Veronique V; Falchi, Mario M; Han, Jiali J; Martin, Nicholas G NG
Publication Date: 2018-11-14

Variant appearance in text: rs132985
PubMed Link: 30429480
Variant Present in the following documents:
  • Main text
  • 41467_2018_6649_MOESM1_ESM.pdf
  • 41467_2018_Article_6649.pdf
View BVdb publication page



A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.

Frontiers In Physiology
Broekema, Marjoleine F MF; Massink, Maarten P G MPG; De Ligt, Joep J; Stigter, Edwin C A ECA; Monajemi, Houshang H; De Ridder, Jeroen J; Burgering, Boudewijn M T BMT; van Haaften, Gijs W GW; Kalkhoven, Eric E
Publication Date: 2018

Variant appearance in text: rs132985
PubMed Link: 30319454
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies.

The Journal Of Investigative Dermatology
Cust, Anne E AE; Drummond, Martin M; Kanetsky, Peter A PA; , ; , ; Goldstein, Alisa M AM; Barrett, Jennifer H JH; MacGregor, Stuart S; Law, Matthew H MH; Iles, Mark M MM; Bui, Minh M; Hopper, John L JL; Brossard, Myriam M; Demenais, Florence F; Taylor, John C JC; Hoggart, Clive C; Brown, Kevin M KM; Landi, Maria Teresa MT; Newton-Bishop, Julia A JA; Mann, Graham J GJ; Bishop, D Timothy DT
Publication Date: 2018-12

Variant appearance in text: rs132985
PubMed Link: 29890168
Variant Present in the following documents:
  • Main text
View BVdb publication page



An adult-based insulin resistance genetic risk score associates with insulin resistance, metabolic traits and altered fat distribution in Danish children and adolescents who are overweight or obese.

Diabetologia
Graae, Anne-Sofie AS; Hollensted, Mette M; Kloppenborg, Julie T JT; Mahendran, Yuvaraj Y; Schnurr, Theresia M TM; Appel, Emil Vincent R EVR; Rask, Johanne J; Nielsen, Tenna R H TRH; Johansen, Mia Ø MØ; Linneberg, Allan A; Jørgensen, Marit E ME; Grarup, Niels N; Kadarmideen, Haja N HN; Holst, Birgitte B; Pedersen, Oluf O; Holm, Jens-Christian JC; Hansen, Torben T
Publication Date: 2018-08

Variant appearance in text: rs132985
PubMed Link: 29855666
Variant Present in the following documents:
  • 125_2018_Article_4640.pdf
  • 125_2018_4640_MOESM1_ESM.pdf
View BVdb publication page



Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes.

The Journal Of Investigative Dermatology
Thomas, Nancy E NE; Edmiston, Sharon N SN; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Gibbs, David C DC; Parrish, Eloise A EA; Hao, Honglin H; Busam, Klaus J KJ; Armstrong, Bruce K BK; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Conway, Kathleen K; ,
Publication Date: 2018-11

Variant appearance in text: rs132985
PubMed Link: 29753029
Variant Present in the following documents:
  • Main text
View BVdb publication page



The phosphatidylinositide 3-kinase (PI3K) signaling pathway is a determinant of zileuton response in adults with asthma.

The Pharmacogenomics Journal
Dahlin, Amber A; Qiu, Weiliang W; Litonjua, Augusto A AA; Lima, John J JJ; Tamari, Mayumi M; Kubo, Michiaki M; Irvin, Charles G CG; Peters, Stephen P SP; Wu, Ann C AC; Weiss, Scott T ST; Tantisira, Kelan G KG
Publication Date: 2018-09

Variant appearance in text: rs132985
PubMed Link: 29298996
Variant Present in the following documents:
  • Main text
  • 41397_2017_Article_6.pdf
View BVdb publication page



Functional melanoma-risk variant IRF4 rs12203592 associated with Breslow thickness: a pooled international study of primary melanomas.

The British Journal Of Dermatology
Gibbs, D C DC; Ward, S V SV; Orlow, I I; Cadby, G G; Kanetsky, P A PA; Luo, L L; Busam, K J KJ; Kricker, A A; Armstrong, B K BK; Cust, A E AE; Anton-Culver, H H; Gallagher, R P RP; Zanetti, R R; Rosso, S S; Sacchetto, L L; Ollila, D W DW; Begg, C B CB; Berwick, M M; Thomas, N E NE; ,
Publication Date: 2017-11

Variant appearance in text: rs132985
PubMed Link: 28667740
Variant Present in the following documents:
  • Main text
View BVdb publication page



A technical application of quantitative next generation sequencing for chimerism evaluation.

Molecular Medicine Reports
Aloisio, Michelangelo M; Licastro, Danilo D; Caenazzo, Luciana L; Torboli, Valentina V; D'Eustacchio, Angela A; Severini, Giovanni Maria GM; Athanasakis, Emmanouil E
Publication Date: 2016-10

Variant appearance in text: rs132985
PubMed Link: 27499173
Variant Present in the following documents:
  • Main text
  • mmr-14-04-2967.pdf
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New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.

Nature Communications
Lu, Yingchang Y; Day, Felix R FR; Gustafsson, Stefan S; Buchkovich, Martin L ML; Na, Jianbo J; Bataille, Veronique V; Cousminer, Diana L DL; Dastani, Zari Z; Drong, Alexander W AW; Esko, Tõnu T; Evans, David M DM; Falchi, Mario M; Feitosa, Mary F MF; Ferreira, Teresa T; Hedman, Åsa K ÅK; Haring, Robin R; Hysi, Pirro G PG; Iles, Mark M MM; Justice, Anne E AE; Kanoni, Stavroula S; Lagou, Vasiliki V; Li, Rui R; Li, Xin X; Locke, Adam A; Lu, Chen C; Mägi, Reedik R; Perry, John R B JR; Pers, Tune H TH; Qi, Qibin Q; Sanna, Marianna M; Schmidt, Ellen M EM; Scott, William R WR; Shungin, Dmitry D; Teumer, Alexander A; Vinkhuyzen, Anna A E AA; Walker, Ryan W RW; Westra, Harm-Jan HJ; Zhang, Mingfeng M; Zhang, Weihua W; Zhao, Jing Hua JH; Zhu, Zhihong Z; Afzal, Uzma U; Ahluwalia, Tarunveer Singh TS; Bakker, Stephan J L SJ; Bellis, Claire C; Bonnefond, Amélie A; Borodulin, Katja K; Buchman, Aron S AS; Cederholm, Tommy T; Choh, Audrey C AC; Choi, Hyung Jin HJ; Curran, Joanne E JE; de Groot, Lisette C P G M LC; De Jager, Philip L PL; Dhonukshe-Rutten, Rosalie A M RA; Enneman, Anke W AW; Eury, Elodie E; Evans, Daniel S DS; Forsen, Tom T; Friedrich, Nele N; Fumeron, Frédéric F; Garcia, Melissa E ME; Gärtner, Simone S; Han, Bok-Ghee BG; Havulinna, Aki S AS; Hayward, Caroline C; Hernandez, Dena D; Hillege, Hans H; Ittermann, Till T; Kent, Jack W JW; Kolcic, Ivana I; Laatikainen, Tiina T; Lahti, Jari J; Mateo Leach, Irene I; Lee, Christine G CG; Lee, Jong-Young JY; Liu, Tian T; Liu, Youfang Y; Lobbens, Stéphane S; Loh, Marie M; Lyytikäinen, Leo-Pekka LP; Medina-Gomez, Carolina C; Michaëlsson, Karl K; Nalls, Mike A MA; Nielson, Carrie M CM; Oozageer, Laticia L; Pascoe, Laura L; Paternoster, Lavinia L; Polašek, Ozren O; Ripatti, Samuli S; Sarzynski, Mark A MA; Shin, Chan Soo CS; Narančić, Nina Smolej NS; Spira, Dominik D; Srikanth, Priya P; Steinhagen-Thiessen, Elisabeth E; Sung, Yun Ju YJ; Swart, Karin M A KM; Taittonen, Leena L; Tanaka, Toshiko T; Tikkanen, Emmi E; van der Velde, Nathalie N; van Schoor, Natasja M NM; Verweij, Niek N; Wright, Alan F AF; Yu, Lei L; Zmuda, Joseph M JM; Eklund, Niina N; Forrester, Terrence T; Grarup, Niels N; Jackson, Anne U AU; Kristiansson, Kati K; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Lichtner, Peter P; Luan, Jian'an J; Mahajan, Anubha A; Männistö, Satu S; Palmer, Cameron D CD; Ried, Janina S JS; Scott, Robert A RA; Stancáková, Alena A; Wagner, Peter J PJ; Demirkan, Ayse A; Döring, Angela A; Gudnason, Vilmundur V; Kiel, Douglas P DP; Kühnel, Brigitte B; Mangino, Massimo M; Mcknight, Barbara B; Menni, Cristina C; O'Connell, Jeffrey R JR; Oostra, Ben A BA; Shuldiner, Alan R AR; Song, Kijoung K; Vandenput, Liesbeth L; van Duijn, Cornelia M CM; Vollenweider, Peter P; White, Charles C CC; Boehnke, Michael M; Boettcher, Yvonne Y; Cooper, Richard S RS; Forouhi, Nita G NG; Gieger, Christian C; Grallert, Harald H; Hingorani, Aroon A; Jørgensen, Torben T; Jousilahti, Pekka P; Kivimaki, Mika M; Kumari, Meena M; Laakso, Markku M; Langenberg, Claudia C; Linneberg, Allan A; Luke, Amy A; Mckenzie, Colin A CA; Palotie, Aarno A; Pedersen, Oluf O; Peters, Annette A; Strauch, Konstantin K; Tayo, Bamidele O BO; Wareham, Nicholas J NJ; Bennett, David A DA; Bertram, Lars L; Blangero, John J; Blüher, Matthias M; Bouchard, Claude C; Campbell, Harry H; Cho, Nam H NH; Cummings, Steven R SR; Czerwinski, Stefan A SA; Demuth, Ilja I; Eckardt, Rahel R; Eriksson, Johan G JG; Ferrucci, Luigi L; Franco, Oscar H OH; Froguel, Philippe P; Gansevoort, Ron T RT; Hansen, Torben T; Harris, Tamara B TB; Hastie, Nicholas N; Heliövaara, Markku M; Hofman, Albert A; Jordan, Joanne M JM; Jula, Antti A; Kähönen, Mika M; Kajantie, Eero E; Knekt, Paul B PB; Koskinen, Seppo S; Kovacs, Peter P; Lehtimäki, Terho T; Lind, Lars L; Liu, Yongmei Y; Orwoll, Eric S ES; Osmond, Clive C; Perola, Markus M; Pérusse, Louis L; Raitakari, Olli T OT; Rankinen, Tuomo T; Rao, D C DC; Rice, Treva K TK; Rivadeneira, Fernando F; Rudan, Igor I; Salomaa, Veikko V; Sørensen, Thorkild I A TI; Stumvoll, Michael M; Tönjes, Anke A; Towne, Bradford B; Tranah, Gregory J GJ; Tremblay, Angelo A; Uitterlinden, André G AG; van der Harst, Pim P; Vartiainen, Erkki E; Viikari, Jorma S JS; Vitart, Veronique V; Vohl, Marie-Claude MC; Völzke, Henry H; Walker, Mark M; Wallaschofski, Henri H; Wild, Sarah S; Wilson, James F JF; Yengo, Loïc L; Bishop, D Timothy DT; Borecki, Ingrid B IB; Chambers, John C JC; Cupples, L Adrienne LA; Dehghan, Abbas A; Deloukas, Panos P; Fatemifar, Ghazaleh G; Fox, Caroline C; Furey, Terrence S TS; Franke, Lude L; Han, Jiali J; Hunter, David J DJ; Karjalainen, Juha J; Karpe, Fredrik F; Kaplan, Robert C RC; Kooner, Jaspal S JS; McCarthy, Mark I MI; Murabito, Joanne M JM; Morris, Andrew P AP; Bishop, Julia A N JA; North, Kari E KE; Ohlsson, Claes C; Ong, Ken K KK; Prokopenko, Inga I; Richards, J Brent JB; Schadt, Eric E EE; Spector, Tim D TD; Widén, Elisabeth E; Willer, Cristen J CJ; Yang, Jian J; Ingelsson, Erik E; Mohlke, Karen L KL; Hirschhorn, Joel N JN; Pospisilik, John Andrew JA; Zillikens, M Carola MC; Lindgren, Cecilia C; Kilpeläinen, Tuomas Oskari TO; Loos, Ruth J F RJ
Publication Date: 2016-02-01

Variant appearance in text: rs132985
PubMed Link: 26833246
Variant Present in the following documents:
  • ncomms10495-s1.pdf
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Inherited genetic variants associated with occurrence of multiple primary melanoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Gibbs, David C DC; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Kricker, Anne A; Armstrong, Bruce K BK; Anton-Culver, Hoda H; Gruber, Stephen B SB; Marrett, Loraine D LD; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Dwyer, Terence T; Sharma, Ajay A; La Pilla, Emily E; From, Lynn L; Busam, Klaus J KJ; Cust, Anne E AE; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2015-06

Variant appearance in text: rs132985
PubMed Link: 25837821
Variant Present in the following documents:
  • Main text
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Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology
Orlow, I I; Satagopan, J M JM; Berwick, M M; Enriquez, H L HL; White, K A M KA; Cheung, K K; Dusza, S W SW; Oliveria, S A SA; Marchetti, M A MA; Scope, A A; Marghoob, A A AA; Halpern, A C AC
Publication Date: 2015-04

Variant appearance in text: rs132985
PubMed Link: 25307738
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
View BVdb publication page



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: rs132985
PubMed Link: 24980573
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: rs132985
PubMed Link: 24392023
Variant Present in the following documents:
  • Main text
  • pone.0085642.pdf
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Melanoma risk loci as determinants of melanoma recurrence and survival.

Journal Of Translational Medicine
Rendleman, Justin J; Shang, Shulian S; Dominianni, Christine C; Shields, Jerry F JF; Scanlon, Patrick P; Adaniel, Christina C; Desrichard, Alexis A; Ma, Michelle M; Shapiro, Richard R; Berman, Russell R; Pavlick, Anna A; Polsky, David D; Shao, Yongzhao Y; Osman, Iman I; Kirchhoff, Tomas T
Publication Date: 2013-11-04

Variant appearance in text: rs132985
PubMed Link: 24188633
Variant Present in the following documents:
  • Main text
  • 1479-5876-11-279.pdf
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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: rs132985
PubMed Link: 23580930
Variant Present in the following documents:
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Association between functional polymorphisms in genes involved in the MAPK signaling pathways and cutaneous melanoma risk.

Carcinogenesis
Liu, Hongliang H; Wang, Li-E LE; Liu, Zhensheng Z; Chen, Wei V WV; Amos, Christopher I CI; Lee, Jeffrey E JE; , ; , ; Iles, Mark M MM; Law, Matthew H MH; Barrett, Jennifer H JH; Montgomery, Grant W GW; Taylor, John C JC; MacGregor, Stuart S; Cust, Anne E AE; Newton Bishop, Julia A JA; Hayward, Nicholas K NK; Bishop, D Timothy DT; Mann, Graham J GJ; Affleck, Paul P; Wei, Qingyi Q
Publication Date: 2013-04

Variant appearance in text: rs132985
PubMed Link: 23291271
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Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma.

Twin Research And Human Genetics : The Official Journal Of The International Society For Twin Studies
Kvaskoff, Marina M; Whiteman, David C DC; Zhao, Zhen Z ZZ; Montgomery, Grant W GW; Martin, Nicholas G NG; Hayward, Nicholas K NK; Duffy, David L DL
Publication Date: 2011-10

Variant appearance in text: rs132985
PubMed Link: 21962134
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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: rs132985
PubMed Link: 19863770
Variant Present in the following documents:
  • Main text
  • gm95.pdf
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Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.

Nature Genetics
Falchi, Mario M; Bataille, Veronique V; Hayward, Nicholas K NK; Duffy, David L DL; Bishop, Julia A Newton JA; Pastinen, Tomi T; Cervino, Alessandra A; Zhao, Zhen Z ZZ; Deloukas, Panos P; Soranzo, Nicole N; Elder, David E DE; Barrett, Jennifer H JH; Martin, Nicholas G NG; Bishop, D Timothy DT; Montgomery, Grant W GW; Spector, Timothy D TD
Publication Date: 2009-08

Variant appearance in text: rs132985
PubMed Link: 19578365
Variant Present in the following documents:
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