MTAP c.450+2289A>G

Variant ID: 9-21840298-A-G

NM_002451.3(MTAP):c.450+2289A>G

This variant was identified in 13 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: rs10811629
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: rs10811629
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
View BVdb publication page



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: rs10811629
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: rs10811629
PubMed Link: 32856602
Variant Present in the following documents:
  • Main text
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: rs10811629
PubMed Link: 31568773
Variant Present in the following documents:
  • Main text
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: rs10811629
PubMed Link: 29753029
Variant Present in the following documents:
  • Main text
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: rs10811629
PubMed Link: 28667740
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of the Methylthioadenosine Phosphorylase Polymorphism rs7023954 - Incidence and Effects on Enzymatic Function in Malignant Melanoma.

Plos One
Limm, Katharina K; Dettmer, Katja K; Reinders, Jörg J; Oefner, Peter J PJ; Bosserhoff, Anja-Katrin AK
Publication Date: 2016

Variant appearance in text: rs10811629
PubMed Link: 27479139
Variant Present in the following documents:
  • Main text
  • pone.0160348.pdf
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: rs10811629
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: rs10811629
PubMed Link: 25307738
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
View BVdb publication page



Variants at the 9p21 locus and melanoma risk.

Bmc Cancer
Maccioni, Livia L; Rachakonda, Panduranga Sivaramakrishna PS; Bermejo, Justo Lorenzo JL; Planelles, Dolores D; Requena, Celia C; Hemminki, Kari K; Nagore, Eduardo E; Kumar, Rajiv R
Publication Date: 2013-07-02

Variant appearance in text: rs10811629
PubMed Link: 23816148
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common genetic variants in the 9p21 region and their associations with multiple tumours.

British Journal Of Cancer
Gu, F F; Pfeiffer, R M RM; Bhattacharjee, S S; Han, S S SS; Taylor, P R PR; Berndt, S S; Yang, H H; Sigurdson, A J AJ; Toro, J J; Mirabello, L L; Greene, M H MH; Freedman, N D ND; Abnet, C C CC; Dawsey, S M SM; Hu, N N; Qiao, Y-L YL; Ding, T T; Brenner, A V AV; Garcia-Closas, M M; Hayes, R R; Brinton, L A LA; Lissowska, J J; Wentzensen, N N; Kratz, C C; Moore, L E LE; Ziegler, R G RG; Chow, W-H WH; Savage, S A SA; Burdette, L L; Yeager, M M; Chanock, S J SJ; Chatterjee, N N; Tucker, M A MA; Goldstein, A M AM; Yang, X R XR
Publication Date: 2013-04-02

Variant appearance in text: rs10811629
PubMed Link: 23361049
Variant Present in the following documents:
  • Main text
  • bjc20137a.pdf
View BVdb publication page



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: rs10811629
PubMed Link: 21962134
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs10811629
PubMed Link: 19578365
Variant Present in the following documents:
  • Main text
View BVdb publication page