DMRT1 c.538+16492C>T

Variant ID: 9-863635-C-T

NM_021951.2(DMRT1):c.538+16492C>T

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Artificial Intelligence Predictive Models of Response to Cytotoxic Chemotherapy Alone or Combined to Targeted Therapy for Metastatic Colorectal Cancer Patients: A Systematic Review and Meta-Analysis.

Cancers
Russo, Valentina V; Lallo, Eleonora E; Munnia, Armelle A; Spedicato, Miriana M; Messerini, Luca L; D'Aurizio, Romina R; Ceroni, Elia Giuseppe EG; Brunelli, Giulia G; Galvano, Antonio A; Russo, Antonio A; Landini, Ida I; Nobili, Stefania S; Ceppi, Marcello M; Bruzzone, Marco M; Cianchi, Fabio F; Staderini, Fabio F; Roselli, Mario M; Riondino, Silvia S; Ferroni, Patrizia P; Guadagni, Fiorella F; Mini, Enrico E; Peluso, Marco M
Publication Date: 2022-08-19

Variant appearance in text: rs755383
PubMed Link: 36011003
Variant Present in the following documents:
  • Main text
  • cancers-14-04012.pdf
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Identification of 22 susceptibility loci associated with testicular germ cell tumors.

Nature Communications
Pluta, John J; Pyle, Louise C LC; Nead, Kevin T KT; Wilf, Rona R; Li, Mingyao M; Mitra, Nandita N; Weathers, Benita B; D'Andrea, Kurt K; Almstrup, Kristian K; Anson-Cartwright, Lynn L; Benitez, Javier J; Brown, Christopher D CD; Chanock, Stephen S; Chen, Chu C; Cortessis, Victoria K VK; Ferlin, Alberto A; Foresta, Carlo C; Gamulin, Marija M; Gietema, Jourik A JA; Grasso, Chiara C; Greene, Mark H MH; Grotmol, Tom T; Hamilton, Robert J RJ; Haugen, Trine B TB; Hauser, Russ R; Hildebrandt, Michelle A T MAT; Johnson, Matthew E ME; Karlsson, Robert R; Kiemeney, Lambertus A LA; Lessel, Davor D; Lothe, Ragnhild A RA; Loud, Jennifer T JT; Loveday, Chey C; Martin-Gimeno, Paloma P; Meijer, Coby C; Nsengimana, Jérémie J; Quinn, David I DI; Rafnar, Thorunn T; Ramdas, Shweta S; Richiardi, Lorenzo L; Skotheim, Rolf I RI; Stefansson, Kari K; Turnbull, Clare C; Vaughn, David J DJ; Wiklund, Fredrik F; Wu, Xifeng X; Yang, Daphne D; Zheng, Tongzhang T; Wells, Andrew D AD; Grant, Struan F A SFA; Rajpert-De Meyts, Ewa E; Schwartz, Stephen M SM; Bishop, D Timothy DT; McGlynn, Katherine A KA; Kanetsky, Peter A PA; Nathanson, Katherine L KL; ,
Publication Date: 2021-07-23

Variant appearance in text: rs755383
PubMed Link: 34301922
Variant Present in the following documents:
  • 41467_2021_24334_MOESM1_ESM.pdf
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Random survival forests identify pathways with polymorphisms predictive of survival in KRAS mutant and KRAS wild-type metastatic colorectal cancer patients.

Scientific Reports
Naseem, Madiha M; Cao, Shu S; Yang, Dongyun D; Millstein, Joshua J; Puccini, Alberto A; Loupakis, Fotios F; Stintzing, Sebastian S; Cremolini, Chiara C; Tokunaga, Ryuma R; Battaglin, Francesca F; Soni, Shivani S; Berger, Martin D MD; Barzi, Afsaneh A; Zhang, Wu W; Falcone, Alfredo A; Heinemann, Volker V; Lenz, Heinz-Josef HJ
Publication Date: 2021-06-09

Variant appearance in text: rs755383
PubMed Link: 34108518
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_91330.pdf
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: rs755383
PubMed Link: 30429480
Variant Present in the following documents:
  • 41467_2018_6649_MOESM1_ESM.pdf
View BVdb publication page



Exploring the molecular aspects associated with testicular germ cell tumors: a review.

Oncotarget
Facchini, Gaetano G; Rossetti, Sabrina S; Cavaliere, Carla C; D'Aniello, Carmine C; Di Franco, Rossella R; Iovane, Gelsomina G; Grimaldi, Giovanni G; Piscitelli, Raffaele R; Muto, Paolo P; Botti, Gerardo G; Perdonà, Sisto S; Veneziani, Bianca Maria BM; Berretta, Massimiliano M; Montanari, Micaela M
Publication Date: 2018-01-02

Variant appearance in text: rs755383
PubMed Link: 29416701
Variant Present in the following documents:
  • Main text
  • oncotarget-09-1365.pdf
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Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

Nature Genetics
Wang, Zhaoming Z; McGlynn, Katherine A KA; Rajpert-De Meyts, Ewa E; Bishop, D Timothy DT; Chung, Charles C CC; Dalgaard, Marlene D MD; Greene, Mark H MH; Gupta, Ramneek R; Grotmol, Tom T; Haugen, Trine B TB; Karlsson, Robert R; Litchfield, Kevin K; Mitra, Nandita N; Nielsen, Kasper K; Pyle, Louise C LC; Schwartz, Stephen M SM; Thorsson, Vésteinn V; Vardhanabhuti, Saran S; Wiklund, Fredrik F; Turnbull, Clare C; Chanock, Stephen J SJ; Kanetsky, Peter A PA; Nathanson, Katherine L KL; ,
Publication Date: 2017-07

Variant appearance in text: rs755383
PubMed Link: 28604732
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants in BAK1, SPRY4, and GAB2 are associated with pediatric germ cell tumors: A report from the children's oncology group.

Genes, Chromosomes & Cancer
Marcotte, Erin L EL; Pankratz, Nathan N; Amatruda, James F JF; Frazier, A Lindsay AL; Krailo, Mark M; Davies, Stella S; Starr, Jacqueline R JR; Lau, Ching C CC; Roesler, Michelle M; Langer, Erica E; Hallstrom, Caroline C; Hooten, Anthony J AJ; Poynter, Jenny N JN
Publication Date: 2017-07

Variant appearance in text: rs755383
PubMed Link: 28295819
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic changes associated with testicular cancer susceptibility.

Seminars In Oncology
Pyle, Louise C LC; Nathanson, Katherine L KL
Publication Date: 2016-10

Variant appearance in text: rs755383
PubMed Link: 27899190
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cross platform analysis of methylation, miRNA and stem cell gene expression data in germ cell tumors highlights characteristic differences by tumor histology.

Bmc Cancer
Poynter, Jenny N JN; Bestrashniy, Jessica R B M JR; Silverstein, Kevin A T KA; Hooten, Anthony J AJ; Lees, Christopher C; Ross, Julie A JA; Tolar, Jakub J
Publication Date: 2015-10-23

Variant appearance in text: rs755383
PubMed Link: 26497383
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantifying the heritability of testicular germ cell tumour using both population-based and genomic approaches.

Scientific Reports
Litchfield, Kevin K; Thomsen, Hauke H; Mitchell, Jonathan S JS; Sundquist, Jan J; Houlston, Richard S RS; Hemminki, Kari K; Turnbull, Clare C
Publication Date: 2015-09-09

Variant appearance in text: rs755383
PubMed Link: 26349679
Variant Present in the following documents:
  • Main text
View BVdb publication page



Etiology and early pathogenesis of malignant testicular germ cell tumors: towards possibilities for preinvasive diagnosis.

Asian Journal Of Andrology
Elzinga-Tinke, Jenny E JE; Dohle, Gert R GR; Looijenga, Leendert Hj LH
Publication Date: 2015

Variant appearance in text: rs755383
PubMed Link: 25791729
Variant Present in the following documents:
  • AJA-17-381.pdf
View BVdb publication page



Pathway-based analysis of GWAs data identifies association of sex determination genes with susceptibility to testicular germ cell tumors.

Human Molecular Genetics
Koster, Roelof R; Mitra, Nandita N; D'Andrea, Kurt K; Vardhanabhuti, Saran S; Chung, Charles C CC; Wang, Zhaoming Z; Loren Erickson, R R; Vaughn, David J DJ; Litchfield, Kevin K; Rahman, Nazneen N; Greene, Mark H MH; McGlynn, Katherine A KA; Turnbull, Clare C; Chanock, Stephen J SJ; Nathanson, Katherine L KL; Kanetsky, Peter A PA
Publication Date: 2014-11-15

Variant appearance in text: rs755383
PubMed Link: 24943593
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour.

Journal Of Medical Genetics
Kratz, Christian P CP; Han, Summer S SS; Rosenberg, Philip S PS; Berndt, Sonja I SI; Burdett, Laurie L; Yeager, Meredith M; Korde, Larissa A LA; Mai, Phuong L PL; Pfeiffer, Ruth R; Greene, Mark H MH
Publication Date: 2011-07

Variant appearance in text: rs755383
PubMed Link: 21617256
Variant Present in the following documents:
  • Main text
View BVdb publication page



A stratified genetic risk assessment for testicular cancer.

International Journal Of Andrology
Kratz, C P CP; Greene, M H MH; Bratslavsky, G G; Shi, J J
Publication Date: 2011-08

Variant appearance in text: rs755383
PubMed Link: 21564132
Variant Present in the following documents:
  • Main text
View BVdb publication page



A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.

Human Molecular Genetics
Kanetsky, Peter A PA; Mitra, Nandita N; Vardhanabhuti, Saran S; Vaughn, David J DJ; Li, Mingyao M; Ciosek, Stephanie L SL; Letrero, Richard R; D'Andrea, Kurt K; Vaddi, Madhavi M; Doody, David R DR; Weaver, Joellen J; Chen, Chu C; Starr, Jacqueline R JR; Håkonarson, Håkon H; Rader, Daniel J DJ; Godwin, Andrew K AK; Reilly, Muredach P MP; Schwartz, Stephen M SM; Nathanson, Katherine L KL
Publication Date: 2011-08-01

Variant appearance in text: rs755383
PubMed Link: 21551455
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.

Nature Genetics
Turnbull, Clare C; Rapley, Elizabeth A EA; Seal, Sheila S; Pernet, David D; Renwick, Anthony A; Hughes, Deborah D; Ricketts, Michelle M; Linger, Rachel R; Nsengimana, Jeremie J; Deloukas, Panagiotis P; Huddart, Robert A RA; Bishop, D Timothy DT; Easton, Douglas F DF; Stratton, Michael R MR; Rahman, Nazneen N; ,
Publication Date: 2010-07

Variant appearance in text: rs755383
PubMed Link: 20543847
Variant Present in the following documents:
  • Main text
View BVdb publication page