TERT c.215G>C ;(p.R72P)

Variant ID: 5-1294890-C-G

NM_198253.2(TERT):c.215G>C;(p.R72P)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Gene polymorphisms and risk of head and neck squamous cell carcinoma: a systematic review.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology
Rajabi-Moghaddam, Mahdieh M; Abbaszadeh, Hamid H
Publication Date: 2022

Variant appearance in text: TERT: Arg72Pro
PubMed Link: 36632298
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of TP53 rs1042522 C>G Polymorphism with Glioma Risk in Chinese Children.

Biomed Research International
Liao, Fan F; Yuan, Li L; Zhu, Jinhong J; Chen, Wei W; Zhao, Yemu Y; He, Jing J
Publication Date: 2022

Variant appearance in text: TERT: Arg72Pro
PubMed Link: 35996546
Variant Present in the following documents:
  • BMRI2022-2712808.pdf
View BVdb publication page



Investigation on factors associated with ovarian cancer: an umbrella review of systematic review and meta-analyses.

Journal Of Ovarian Research
Tanha, Kiarash K; Mottaghi, Azadeh A; Nojomi, Marzieh M; Moradi, Marzieh M; Rajabzadeh, Rezvan R; Lotfi, Samaneh S; Janani, Leila L
Publication Date: 2021-11-11

Variant appearance in text: TERT: Arg72Pro
PubMed Link: 34758846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated Genomic Profiling and Drug Screening of Patient-Derived Cultures Identifies Individualized Copy Number-Dependent Susceptibilities Involving PI3K Pathway and 17q Genes in Neuroblastoma.

Frontiers In Oncology
Wong, Rachel L Y RLY; Wong, Megan R E MRE; Kuick, Chik Hong CH; Saffari, Seyed Ehsan SE; Wong, Meng Kang MK; Tan, Sheng Hui SH; Merchant, Khurshid K; Chang, Kenneth T E KTE; Thangavelu, Matan M; Periyasamy, Giridharan G; Chen, Zhi Xiong ZX; Iyer, Prasad P; Tan, Enrica E K EEK; Soh, Shui Yen SY; Iyer, N Gopalakrishna NG; Fan, Qiao Q; Loh, Amos H P AHP
Publication Date: 2021

Variant appearance in text: TERT: R72P
PubMed Link: 34722256
Variant Present in the following documents:
  • Main text
  • fonc-11-709525.pdf
View BVdb publication page



A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants.

Scientific Reports
Wiik, Mariann Unhjem MU; Evans, Tiffany-Jane TJ; Belhadj, Sami S; Bolton, Katherine A KA; Dymerska, Dagmara D; Jagmohan-Changur, Shantie S; Capellá, Gabriel G; Kurzawski, Grzegorz G; Wijnen, Juul T JT; Valle, Laura L; Vasen, Hans F A HFA; Lubinski, Jan J; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2021-05-31

Variant appearance in text: TERT: R72P
PubMed Link: 34059744
Variant Present in the following documents:
  • 41598_2021_Article_90501.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: TERT: Arg72Pro
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



Frequency of somatic mutations in TERT promoter, TP53 and CTNNB1 genes in patients with hepatocellular carcinoma from Southern Italy.

Oncology Letters
Lombardo, Daniele D; Saitta, Carlo C; Giosa, Domenico D; Di Tocco, Francesca Casuscelli FC; Musolino, Cristina C; Caminiti, Giuseppe G; Chines, Valeria V; Franzè, Maria Stella MS; Alibrandi, Angela A; Navarra, Giuseppe G; Raimondo, Giovanni G; Pollicino, Teresa T
Publication Date: 2020-03

Variant appearance in text: TERT: Arg72Pro
PubMed Link: 32194736
Variant Present in the following documents:
  • Main text
  • ol-19-03-2368.pdf
View BVdb publication page



The predictive capability of immunohistochemistry and DNA sequencing for determining TP53 functional mutation status: a comparative study of 41 glioblastoma patients.

Oncotarget
Roshandel, Aarash K AK; Busch, Christopher M CM; Mullekom, Jennifer Van JV; Cuoco, Joshua A JA; Rogers, Cara M CM; Apfel, Lisa S LS; Marvin, Eric A EA; Sontheimer, Harald W HW; Umans, Robyn A RA
Publication Date: 2019-10-22

Variant appearance in text: TERT: Arg72Pro
PubMed Link: 31692772
Variant Present in the following documents:
  • oncotarget-10-6204.pdf
View BVdb publication page



TP53 codon 72 polymorphism is associated with FGFR3 and RAS mutation in non-muscle-invasive bladder cancer.

Plos One
Kawahara, Takashi T; Kojima, Takahiro T; Kandori, Shuya S; Kurobe, Masahiro M; Yoshino, Takayuki T; Kimura, Tomokazu T; Nagumo, Yoshiyuki Y; Ishituka, Ryutaro R; Mitsuzuka, Koji K; Narita, Shintaro S; Kobayashi, Takashi T; Matsui, Yoshiyuki Y; Ogawa, Osamu O; Sugimoto, Mikio M; Miyazaki, Jun J; Nishiyama, Hiroyuki H
Publication Date: 2019

Variant appearance in text: TERT: Arg72Pro
PubMed Link: 31369573
Variant Present in the following documents:
  • pone.0220173.pdf
View BVdb publication page



Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Scientific Reports
Wang, Junjun J; Liu, Qingyun Q; Yuan, Shuai S; Xie, Weijia W; Liu, Yuan Y; Xiang, Ying Y; Wu, Na N; Wu, Long L; Ma, Xiangyu X; Cai, Tongjian T; Zhang, Yao Y; Sun, Zhifu Z; Li, Yafei Y
Publication Date: 2017-08-21

Variant appearance in text: TERT: Arg72Pro
PubMed Link: 28827732
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ataxia Telangiectasia-Mutated (ATM)Polymorphisms and Risk of Lung Cancer in a Chinese Population.

Frontiers In Public Health
Myneni, Ajay A AA; Chang, Shen-Chih SC; Niu, Rungui R; Liu, Li L; Zhao, Baoxing B; Shi, Jianping J; Han, Xiaoyou X; Li, Jiawei J; Su, Jia J; Yu, Shunzhang S; Zhang, Zuo-Feng ZF; Mu, Lina L
Publication Date: 2017

Variant appearance in text: TERT: Arg72Pro
PubMed Link: 28642860
Variant Present in the following documents:
  • fpubh-05-00102.pdf
View BVdb publication page



The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.

Bmc Medical Genomics
Gerhard, Glenn S GS; Jin, Qunyan Q; Paynton, Barbara V BV; Popoff, Steven N SN
Publication Date: 2016-10-06

Variant appearance in text: TERT: Arg72Pro
PubMed Link: 27716216
Variant Present in the following documents:
  • 12920_2016_223_MOESM1_ESM.pdf
View BVdb publication page



A Comparative Analysis of Genetic and Epigenetic Events of Breast and Ovarian Cancer Related to Tumorigenesis.

International Journal Of Molecular Sciences
Longacre, Mckenna M; Snyder, Nicole A NA; Housman, Genevieve G; Leary, Meghan M; Lapinska, Karolina K; Heerboth, Sarah S; Willbanks, Amber A; Sarkar, Sibaji S
Publication Date: 2016-05-18

Variant appearance in text: TERT: 215G>C; Arg72Pro
PubMed Link: 27213343
Variant Present in the following documents:
  • ijms-17-00759.pdf
View BVdb publication page



Comparison of Genetic Variants in Cancer-Related Genes between Chinese Hui and Han Populations.

Plos One
Tian, Chaoyong C; Chen, Zhiqiang Z; Ma, Xixian X; Yang, Ming M; Wang, Zhizhong Z; Dong, Ying Y; Yang, Ting T; Yang, Wenjun W
Publication Date: 2015

Variant appearance in text: TERT: R72P
PubMed Link: 26683024
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic susceptibility in childhood acute leukaemias: a systematic review.

Ecancermedicalscience
Brisson, Gisele D GD; Alves, Liliane R LR; Pombo-de-Oliveira, Maria S MS
Publication Date: 2015

Variant appearance in text: TERT: Arg72Pro
PubMed Link: 26045716
Variant Present in the following documents:
  • Main text
View BVdb publication page



TP53 R72P polymorphism modulates DNA methylation in hepatocellular carcinoma.

Molecular Cancer
Rebbani, Khadija K; Marchio, Agnès A; Ezzikouri, Sayeh S; Afifi, Rajaa R; Kandil, Mostafa M; Bahri, Olfa O; Triki, Henda H; El Feydi, Abdellah Essaid AE; Dejean, Anne A; Benjelloun, Soumaya S; Pineau, Pascal P
Publication Date: 2015-04-02

Variant appearance in text: TERT: R72P
PubMed Link: 25889455
Variant Present in the following documents:
  • Main text
View BVdb publication page



Data integration workflow for search of disease driving genes and genetic variants.

Plos One
Karinen, Sirkku S; Heikkinen, Tuomas T; Nevanlinna, Heli H; Hautaniemi, Sampsa S
Publication Date: 2011-04-12

Variant appearance in text: TERT: R72P
PubMed Link: 21533266
Variant Present in the following documents:
  • Main text
  • pone.0018636.pdf
View BVdb publication page