RET c.74-126G>A

Variant ID: 10-43595781-G-A

NM_020975.4(RET):c.74-126G>A

This variant was identified in 15 publications

View GRCh38 version.




Publications:


JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: rs2565206
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Genetic Variants Associated with Thyroid Cancer Risk: Comprehensive Research Synopsis, Meta-Analysis, and Cumulative Epidemiological Evidence.

Journal Of Oncology
Ran, Ran R; Tu, Gang G; Li, Hui H; Wang, Hao H; Mou, Exian E; Liu, Caiyang C
Publication Date: 2021

Variant appearance in text: rs2565206
PubMed Link: 34950210
Variant Present in the following documents:
  • Main text
  • JO2021-9967599.pdf
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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: rs2565206
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
  • CNR2-4-e1335-s003.xlsx, sheet 2
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Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.

Frontiers In Endocrinology
Mathiesen, Jes Sloth JS; Nielsen, Søren Grønlund SG; Rasmussen, Åse Krogh ÅK; Kiss, Katalin K; Wadt, Karin K; Hermann, Anne Pernille AP; Nielsen, Morten Frost MF; Larsen, Stine Rosenkilde SR; Brusgaard, Klaus K; Frederiksen, Anja Lisbeth AL; Godballe, Christian C; Rossing, Maria M
Publication Date: 2020

Variant appearance in text: rs2565206
PubMed Link: 32411094
Variant Present in the following documents:
  • Main text
  • fendo-11-00251.pdf
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Influencers on Thyroid Cancer Onset: Molecular Genetic Basis.

Genes
Luzón-Toro, Berta B; Fernández, Raquel María RM; Villalba-Benito, Leticia L; Torroglosa, Ana A; Antiñolo, Guillermo G; Borrego, Salud S
Publication Date: 2019-11-08

Variant appearance in text: rs2565206
PubMed Link: 31717449
Variant Present in the following documents:
  • Main text
  • genes-10-00913.pdf
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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: rs2565206
PubMed Link: 28930629
Variant Present in the following documents:
  • Main text
  • aging-09-1996.pdf
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2565206
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2565206
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics
Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP
Publication Date: 2015-06-20

Variant appearance in text: rs2565206
PubMed Link: 26092435
Variant Present in the following documents:
  • 40246_2015_34_MOESM1_ESM.xlsx, sheet 2
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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10

Variant appearance in text: rs2565206
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
  • 439_2013_Article_1331.pdf
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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: rs2565206
PubMed Link: 22584707
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular basis of medullary thyroid carcinoma: the role of RET polymorphisms.

International Journal Of Molecular Sciences
Ceolin, Lucieli L; Siqueira, Débora R DR; Romitti, Mírian M; Ferreira, Carla V CV; Maia, Ana Luiza AL
Publication Date: 2012

Variant appearance in text: rs2565206
PubMed Link: 22312249
Variant Present in the following documents:
  • Main text
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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: rs2565206
PubMed Link: 21995290
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-138.pdf
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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: rs2565206
PubMed Link: 20860806
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-137.pdf
View BVdb publication page



A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.

Journal Of Medical Genetics
Brooks, A S AS; Leegwater, P A PA; Burzynski, G M GM; Willems, P J PJ; de Graaf, B B; van Langen, I I; Heutink, P P; Oostra, B A BA; Hofstra, R M W RM; Bertoli-Avella, A M AM
Publication Date: 2006-07

Variant appearance in text: rs2565206
PubMed Link: 16816022
Variant Present in the following documents:
  • Main text
View BVdb publication page