TYR c.1367-268T>G

Variant ID: 11-89028043-T-G

NM_000372.4(TYR):c.1367-268T>G

This variant was identified in 12 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: rs10830253
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: rs10830253
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
View BVdb publication page



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: rs10830253
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: rs10830253
PubMed Link: 31568773
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: rs10830253
PubMed Link: 30429480
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_6649.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: rs10830253
PubMed Link: 29753029
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs10830253
PubMed Link: 25837821
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs10830253
PubMed Link: 25307738
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
View BVdb publication page



Bayesian variable selection for hierarchical gene-environment and gene-gene interactions.

Human Genetics
Liu, Changlu C; Ma, Jianzhong J; Amos, Christopher I CI
Publication Date: 2015-01

Variant appearance in text: rs10830253
PubMed Link: 25154630
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs10830253
PubMed Link: 24642353
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs10830253
PubMed Link: 24392023
Variant Present in the following documents:
  • Main text
  • pone.0085642.pdf
View BVdb publication page



Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.

Human Molecular Genetics
Amos, Christopher I CI; Wang, Li-E LE; Lee, Jeffrey E JE; Gershenwald, Jeffrey E JE; Chen, Wei V WV; Fang, Shenying S; Kosoy, Roman R; Zhang, Mingfeng M; Qureshi, Abrar A AA; Vattathil, Selina S; Schacherer, Christopher W CW; Gardner, Julie M JM; Wang, Yuling Y; Bishop, D Tim DT; Barrett, Jennifer H JH; , ; MacGregor, Stuart S; Hayward, Nicholas K NK; Martin, Nicholas G NG; Duffy, David L DL; , ; Mann, Graham J GJ; Cust, Anne A; Hopper, John J; , ; Brown, Kevin M KM; Grimm, Elizabeth A EA; Xu, Yaji Y; Han, Younghun Y; Jing, Kaiyan K; McHugh, Caitlin C; Laurie, Cathy C CC; Doheny, Kim F KF; Pugh, Elizabeth W EW; Seldin, Michael F MF; Han, Jiali J; Wei, Qingyi Q
Publication Date: 2011-12-15

Variant appearance in text: rs10830253
PubMed Link: 21926416
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs10830253
PubMed Link: 19578364
Variant Present in the following documents:
  • Main text
View BVdb publication page