RET c.74-1362C>T

Variant ID: 10-43594545-C-T

NM_020975.4(RET):c.74-1362C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic interaction analysis among oncogenesis-related genes revealed novel genes and networks in lung cancer development.

Oncotarget
Li, Yafang Y; Xiao, Xiangjun X; Bossé, Yohan Y; Gorlova, Olga O; Gorlov, Ivan I; Han, Younghun Y; Byun, Jinyoung J; Leighl, Natasha N; Johansen, Jakob S JS; Barnett, Matt M; Chen, Chu C; Goodman, Gary G; Cox, Angela A; Taylor, Fiona F; Woll, Penella P; Wichmann, H Erich HE; Manz, Judith J; Muley, Thomas T; Risch, Angela A; Rosenberger, Albert A; Han, Jiali J; Siminovitch, Katherine K; Arnold, Susanne M SM; Haura, Eric B EB; Bolca, Ciprian C; Holcatova, Ivana I; Janout, Vladimir V; Kontic, Milica M; Lissowska, Jolanta J; Mukeria, Anush A; Ognjanovic, Simona S; Orlowski, Tadeusz M TM; Scelo, Ghislaine G; Swiatkowska, Beata B; Zaridze, David D; Bakke, Per P; Skaug, Vidar V; Zienolddiny, Shanbeh S; Duell, Eric J EJ; Butler, Lesley M LM; Houlston, Richard R; Artigas, María Soler MS; Grankvist, Kjell K; Johansson, Mikael M; Shepherd, Frances A FA; Marcus, Michael W MW; Brunnström, Hans H; Manjer, Jonas J; Melander, Olle O; Muller, David C DC; Overvad, Kim K; Trichopoulou, Antonia A; Tumino, Rosario R; Liu, Geoffrey G; Bojesen, Stig E SE; Wu, Xifeng X; Le Marchand, Loic L; Albanes, Demetrios D; Bickeböller, Heike H; Aldrich, Melinda C MC; Bush, William S WS; Tardon, Adonina A; Rennert, Gad G; Teare, M Dawn MD; Field, John K JK; Kiemeney, Lambertus A LA; Lazarus, Philip P; Haugen, Aage A; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Bertazzi, Pier Alberto PA; Pesatori, Angela C AC; Christiani, David C DC; Caporaso, Neil N; Johansson, Mattias M; McKay, James D JD; Brennan, Paul P; Hung, Rayjean J RJ; Amos, Christopher I CI
Publication Date: 2019-03-05

Variant appearance in text: rs2505532
PubMed Link: 30956756
Variant Present in the following documents:
  • Main text
  • oncotarget-10-1760.pdf
View BVdb publication page



Large-scale replication study identified multiple independent SNPs in RET synergistically associated with Hirschsprung disease in Southern Chinese population.

Aging
Zhang, Yan Y; He, Qiuming Q; Zhang, Ruizhong R; Zhang, Hong H; Zhong, Wei W; Xia, Huimin H
Publication Date: 2017-09-20

Variant appearance in text: rs2505532
PubMed Link: 28930629
Variant Present in the following documents:
  • Main text
  • aging-09-1996.pdf
View BVdb publication page



RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.

Clinics (Sao Paulo, Brazil)
Quedas, Elisangela P S EP; Longuini, Viviane C VC; Sekiya, Tomoko T; Coutinho, Flavia L FL; Toledo, Sergio P A SP; Tannuri, Uenis U; Toledo, Rodrigo A RA
Publication Date: 2012

Variant appearance in text: rs2505532
PubMed Link: 22584707
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.

Bmc Medical Genetics
Núñez-Torres, Rocio R; Fernández, Raquel M RM; Acosta, Manuel Jesus MJ; Enguix-Riego, Maria Del Valle Mdel V; Marbá, Martina M; Carlos de Agustín, Juan J; Castaño, Luis L; Antiñolo, Guillermo G; Borrego, Salud S
Publication Date: 2011-10-13

Variant appearance in text: rs2505532
PubMed Link: 21995290
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-138.pdf
View BVdb publication page



Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.

Bmc Medical Genetics
Fernández, Raquel M RM; Núñez-Torres, Rocío R; González-Meneses, Antonio A; Antiñolo, Guillermo G; Borrego, Salud S
Publication Date: 2010-09-22

Variant appearance in text: rs2505532
PubMed Link: 20860806
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-137.pdf
View BVdb publication page