TP53 c.666G>A ;(p.P222=)

Variant ID: 17-7578183-C-T

NM_000546.5(TP53):c.666G>A;(p.P222=)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs72661118
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs72661118
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: TP53: P222=
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: N/A
PubMed Link: 33420045
Variant Present in the following documents:
View BVdb publication page



Genotyping data of routinely processed matched primary/metastatic tumor samples.

Data In Brief
Kotoula, Vassiliki V; Chatzopoulos, Kyriakos K; Papadopoulou, Kyriaki K; Giannoulatou, Eleni E; Koliou, Georgia-Angeliki GA; Karavasilis, Vasilios V; Pazarli, Elissavet E; Pervana, Stavroula S; Kafiri, Georgia G; Tsoulfas, Georgios G; Chrisafi, Sofia S; Sgouramali, Helen H; Papakostas, Pavlos P; Pectasides, Dimitrios D; Hytiroglou, Prodromos P; Pentheroudakis, George G; Fountzilas, George G
Publication Date: 2021-02

Variant appearance in text: TP53: 666G>A; rs72661118
PubMed Link: 33365374
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Publication Date: 2021-05

Variant appearance in text: TP53: P222=; rs72661118
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM1_ESM.pdf
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Publication Date: 2021-05

Variant appearance in text: TP53: P222=; rs72661118
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM1_ESM.pdf
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Associations among smoking, MGMT hypermethylation, TP53-mutations, and relapse in head and neck squamous cell carcinoma.

Plos One
Matsuda, Shinichi S; Mafune, Aki A; Kohda, Nagisa N; Hama, Takanori T; Urashima, Mitsuyoshi M
Publication Date: 2020

Variant appearance in text: TP53: P222P
PubMed Link: 32324779
Variant Present in the following documents:
  • Main text
  • pone.0231932.pdf
View BVdb publication page



Molecular and in-silico analysis of single nucleotide polymorphism targeting human TP53 gene exon 5-8 in Sudanese esophageal cancer patients.

F1000Research
Elfaki, Rihab M RM; Abdelaziz, Mohammed S MS; Altayb, Hisham N HN; Munsoor, Munsoor M MM; Gameel, Ahmed A AA
Publication Date: 2018

Variant appearance in text: TP53: P222P
PubMed Link: 31316750
Variant Present in the following documents:
  • Main text
  • f1000research-7-16944.pdf
View BVdb publication page



From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies
Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C
Publication Date: 2019-08

Variant appearance in text: TP53: 666G>A; Pro222=
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
  • supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: N/A
PubMed Link: 30287823
Variant Present in the following documents:
View BVdb publication page



Distribution of KRAS, DDR2, and TP53 gene mutations in lung cancer: An analysis of Iranian patients.

Plos One
Fathi, Zahra Z; Mousavi, Seyed Ali Javad SAJ; Roudi, Raheleh R; Ghazi, Farideh F
Publication Date: 2018

Variant appearance in text: N/A
PubMed Link: 30048458
Variant Present in the following documents:
View BVdb publication page



Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One
Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A
Publication Date: 2017

Variant appearance in text: TP53: P222P; rs72661118
PubMed Link: 29267365
Variant Present in the following documents:
  • pone.0189881.s007.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: TP53: P222P
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
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: TP53: 666G>A; Pro222=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.

Gastroenterology
Cho, Soo Young SY; Park, Jun Won JW; Liu, Yang Y; Park, Young Soo YS; Kim, Ju Hee JH; Yang, Hanna H; Um, Hyejin H; Ko, Woo Ri WR; Lee, Byung Il BI; Kwon, Sun Young SY; Ryu, Seung Wan SW; Kwon, Chae Hwa CH; Park, Do Youn DY; Lee, Jae-Hyuk JH; Lee, Sang Il SI; Song, Kyu Sang KS; Hur, Hoon H; Han, Sang-Uk SU; Chang, Heekyung H; Kim, Su-Jin SJ; Kim, Byung-Sik BS; Yook, Jeong-Hwan JH; Yoo, Moon-Won MW; Kim, Beom-Su BS; Lee, In-Seob IS; Kook, Myeong-Cherl MC; Thiessen, Nina N; He, An A; Stewart, Chip C; Dunford, Andrew A; Kim, Jaegil J; Shih, Juliann J; Saksena, Gordon G; Cherniack, Andrew D AD; Schumacher, Steven S; Weiner, Amaro-Taylor AT; Rosenberg, Mara M; Getz, Gad G; Yang, Eun Gyeong EG; Ryu, Min-Hee MH; Bass, Adam J AJ; Kim, Hark Kyun HK
Publication Date: 2017-08

Variant appearance in text: rs72661118
PubMed Link: 28522256
Variant Present in the following documents:
  • NIHMS1058936-supplement-Table_S3.xlsx, sheet 1
View BVdb publication page



Homozygous deletions of UGT2B17 modifies effects of smoking on TP53-mutations and relapse of head and neck carcinoma.

Bmc Cancer
Mafune, Aki A; Hama, Takanori T; Suda, Toshihito T; Suzuki, Yutaka Y; Ikegami, Masahiro M; Sakanashi, Chikako C; Imai, Satoko S; Nakashima, Akio A; Yokoo, Takashi T; Wada, Kota K; Kojima, Hiromi H; Urashima, Mitsuyoshi M
Publication Date: 2015-03-31

Variant appearance in text: TP53: P222P
PubMed Link: 25886176
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1220.pdf
View BVdb publication page



Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.

Nature Genetics
Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T
Publication Date: 2014-09

Variant appearance in text: TP53: 666G>A; rs72661118
PubMed Link: 25086664
Variant Present in the following documents:
  • NIHMS612904-supplement-2.xlsx, sheet 8
View BVdb publication page



Distinct effects of alcohol consumption and smoking on genetic alterations in head and neck carcinoma.

Plos One
Urashima, Mitsuyoshi M; Hama, Takanori T; Suda, Toshihito T; Suzuki, Yutaka Y; Ikegami, Masahiro M; Sakanashi, Chikako C; Akutsu, Taisuke T; Amagaya, Suguru S; Horiuchi, Kazuhumi K; Imai, Yu Y; Mezawa, Hidetoshi H; Noya, Miki M; Nakashima, Akio A; Mafune, Aki A; Kato, Takakuni T; Kojima, Hiromi H
Publication Date: 2013

Variant appearance in text: TP53: P222P
PubMed Link: 24278325
Variant Present in the following documents:
  • Main text
  • pone.0080828.pdf
View BVdb publication page



Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

Plos One
Chen, Zhenbin Z; Feng, Jinong J; Buzin, Carolyn H CH; Sommer, Steve S SS
Publication Date: 2008

Variant appearance in text: TP53: P222P
PubMed Link: 19005564
Variant Present in the following documents:
  • pone.0003714.s007.xls, sheet 1
View BVdb publication page



Mismatch repair gene MSH3 polymorphism is associated with the risk of sporadic prostate cancer.

The Journal Of Urology
Hirata, Hiroshi H; Hinoda, Yuji Y; Kawamoto, Ken K; Kikuno, Nobuyuki N; Suehiro, Yutaka Y; Okayama, Naoko N; Tanaka, Yuichiro Y; Dahiya, Rajvir R
Publication Date: 2008-05

Variant appearance in text: N/A
PubMed Link: 18355840
Variant Present in the following documents:
View BVdb publication page