RET c.2531G>A ;(p.R844Q)

Variant ID: 10-43615117-G-A

NM_020975.4(RET):c.2531G>A;(p.R844Q)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Three-dimensional genomic mapping of human pancreatic tissue reveals striking multifocality and genetic heterogeneity in precancerous lesions.

Biorxiv : The Preprint Server For Biology
Braxton, Alicia M AM; Kiemen, Ashley L AL; Grahn, Mia P MP; Forjaz, André A; Babu, Jaanvi Mahesh JM; Zheng, Lily L; Jiang, Liping L; Cheng, Haixia H; Song, Qianqian Q; Reichel, Rebecca R; Graham, Sarah S; Damanakis, Alexander I AI; Fischer, Catherine G CG; Mou, Stephanie S; Metz, Cameron C; Granger, Julie J; Liu, Xiao-Ding XD; Bachmann, Niklas N; Almagro-Pérez, Cristina C; Jiang, Ann Chenyu AC; Yoo, Jeonghyun J; Kim, Bridgette B; Du, Scott S; Foster, Eli E; Hsu, Jocelyn Y JY; Rivera, Paula Andreu PA; Chu, Linda C LC; Liu, Fengze F; Niknafs, Noushin N; Fishman, Elliot K EK; Yuille, Alan A; Roberts, Nicholas J NJ; Thompson, Elizabeth D ED; Scharpf, Robert B RB; Cornish, Toby C TC; Jiao, Yuchen Y; Karchin, Rachel R; Hruban, Ralph H RH; Wu, Pei-Hsun PH; Wirtz, Denis D; Wood, Laura D LD
Publication Date: 2023-01-28

Variant appearance in text: RET: 2531G>A
PubMed Link: 36747709
Variant Present in the following documents:
  • media-3.xlsx, sheet 4
View BVdb publication page



Genomic clonal evolution correlated with phenotype and prognosis in gastric cancer.

Clinical And Translational Medicine
Ge, Jie J; Li, Xuan X; Deng, Zhenghao Z; Gao, Xuan X; Liu, Yaoyao Y; Xiong, Xingui X; Zhao, Xianhui X; Peng, Huan H; Yi, Xin X; Xia, Xuefeng X; Chen, Zihua Z; Li, Lifeng L; Zhou, Haiyan H; Liu, Heli H
Publication Date: 2022-04

Variant appearance in text: RET: 2531G>A; R844Q
PubMed Link: 35384329
Variant Present in the following documents:
  • CTM2-12-e799-s006.xlsx, sheet 2
View BVdb publication page



Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports
Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2022-03-09

Variant appearance in text: RET: 2531G>A
PubMed Link: 35264596
Variant Present in the following documents:
  • 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Diagnostic of Solid Tumor Using a Next Generation Sequencing Custom-Designed Multi-Gene Panel.

Diagnostics (Basel, Switzerland)
de Biase, Dario D; Acquaviva, Giorgia G; Visani, Michela M; Sanza, Viviana V; Argento, Chiara M CM; De Leo, Antonio A; Maloberti, Thais T; Pession, Annalisa A; Tallini, Giovanni G
Publication Date: 2020-04-23

Variant appearance in text: RET: 2531G>A
PubMed Link: 32340363
Variant Present in the following documents:
  • diagnostics-10-00250-s001.pdf
View BVdb publication page



Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives.

Biomarker Insights
Khatami, Fatemeh F; Tavangar, Seyed Mohammad SM
Publication Date: 2018

Variant appearance in text: RET: Arg844Gln
PubMed Link: 30013307
Variant Present in the following documents:
  • Main text
  • 10.1177_1177271918785129.pdf
View BVdb publication page



The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget
Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J
Publication Date: 2018-06-08

Variant appearance in text: RET: 2531G>A; R844Q; rs55947360
PubMed Link: 29937994
Variant Present in the following documents:
  • oncotarget-09-27412-s004.xlsx, sheet 1
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: RET: R844Q
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, sheet 1
View BVdb publication page



Pathogenic Germline Variants in 10,389 Adult Cancers.

Cell
Huang, Kuan-Lin KL; Mashl, R Jay RJ; Wu, Yige Y; Ritter, Deborah I DI; Wang, Jiayin J; Oh, Clara C; Paczkowska, Marta M; Reynolds, Sheila S; Wyczalkowski, Matthew A MA; Oak, Ninad N; Scott, Adam D AD; Krassowski, Michal M; Cherniack, Andrew D AD; Houlahan, Kathleen E KE; Jayasinghe, Reyka R; Wang, Liang-Bo LB; Zhou, Daniel Cui DC; Liu, Di D; Cao, Song S; Kim, Young Won YW; Koire, Amanda A; McMichael, Joshua F JF; Hucthagowder, Vishwanathan V; Kim, Tae-Beom TB; Hahn, Abigail A; Wang, Chen C; McLellan, Michael D MD; Al-Mulla, Fahd F; Johnson, Kimberly J KJ; , ; Lichtarge, Olivier O; Boutros, Paul C PC; Raphael, Benjamin B; Lazar, Alexander J AJ; Zhang, Wei W; Wendl, Michael C MC; Govindan, Ramaswamy R; Jain, Sanjay S; Wheeler, David D; Kulkarni, Shashikant S; Dipersio, John F JF; Reimand, Jüri J; Meric-Bernstam, Funda F; Chen, Ken K; Shmulevich, Ilya I; Plon, Sharon E SE; Chen, Feng F; Ding, Li L
Publication Date: 2018-04-05

Variant appearance in text: RET: R844Q
PubMed Link: 29625052
Variant Present in the following documents:
  • Main text
View BVdb publication page



p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.

The Journal Of Clinical Endocrinology And Metabolism
Loveday, Chey C; Josephs, Katherine K; Chubb, Daniel D; Gunning, Adam A; Izatt, Louise L; Tischkowitz, Marc M; Ellard, Sian S; Turnbull, Clare C
Publication Date: 2018-11-01

Variant appearance in text: RET: 2531G>A
PubMed Link: 29590403
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: RET: R844Q
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



A novel molecular diagnostics platform for somatic and germline precision oncology.

Molecular Genetics & Genomic Medicine
Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J
Publication Date: 2017-07

Variant appearance in text: RET: 2531G>A; R844Q
PubMed Link: 28717660
Variant Present in the following documents:
  • Main text
  • MGG3-5-336.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: RET: 2531G>A; Arg844Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Pediatric Medullary Thyroid Carcinoma.

Journal Of Pediatric Oncology
Starenki, Dmytro D; Park, Jong-In JI
Publication Date: 2015

Variant appearance in text: RET: R844Q
PubMed Link: 27014708
Variant Present in the following documents:
  • Main text
  • nihms764981.pdf
View BVdb publication page



Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Endocrine-Related Cancer
Toledo, Rodrigo A RA; Hatakana, Roxanne R; Lourenço, Delmar M DM; Lindsey, Susan C SC; Camacho, Cleber P CP; Almeida, Marcio M; Lima, José V JV; Sekiya, Tomoko T; Garralda, Elena E; Naslavsky, Michel S MS; Yamamoto, Guilherme L GL; Lazar, Monize M; Meirelles, Osorio O; Sobreira, Tiago J P TJ; Lebrao, Maria Lucia ML; Duarte, Yeda A O YA; Blangero, John J; Zatz, Mayana M; Cerutti, Janete M JM; Maciel, Rui M B RM; Toledo, Sergio P A SP
Publication Date: 2015-02

Variant appearance in text: RET: R844Q
PubMed Link: 25425582
Variant Present in the following documents:
  • Main text
  • ERC140491.pdf
  • supp_ERC-14-0491_Supplementary_table_3.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: RET: R844Q
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

Plos One
Crockett, David K DK; Piccolo, Stephen R SR; Ridge, Perry G PG; Margraf, Rebecca L RL; Lyon, Elaine E; Williams, Marc S MS; Mitchell, Joyce A JA
Publication Date: 2011-03-30

Variant appearance in text: RET: R844Q
PubMed Link: 21479187
Variant Present in the following documents:
  • pone.0018380.pdf
View BVdb publication page