MUTYH c.1347G>A ;(p.T449=)

Variant ID: 1-45796899-C-T

NM_001048174.1(MUTYH):c.1347G>A;(p.T449=)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: rs74318065
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Relationship between MUTYH, OGG1 and BRCA1 mutations and mRNA expression in breast and ovarian cancer predisposition.

Molecular And Clinical Oncology
Moscatello, Carmelo C; Di Nicola, Marta M; Veschi, Serena S; Di Gregorio, Patrizia P; Cianchetti, Ettore E; Stuppia, Liborio L; Battista, Pasquale P; Cama, Alessandro A; Curia, Maria Cristina MC; Aceto, Gitana Maria GM
Publication Date: 2021-01

Variant appearance in text: rs74318065
PubMed Link: 33343895
Variant Present in the following documents:
  • Main text
  • mco-14-01-02177.pdf
View BVdb publication page



Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: rs74318065
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page



Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients.

Oncology Letters
Yang, Jun J; Liu, Wei Qing WQ; Li, Wen Liang WL; Chen, Cheng C; Zhu, Zhu Z; Hong, Min M; Wang, Zhi Qiang ZQ; Dong, Jian J
Publication Date: 2016-07

Variant appearance in text: MUTYH: T449T; rs74318065
PubMed Link: 27347161
Variant Present in the following documents:
  • ol-12-01-0421.pdf
View BVdb publication page



Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.

World Journal Of Gastroenterology
Chang, Yuli Christine YC; Chang, Jan-Gowth JG; Liu, Ta-Chih TC; Lin, Chien-Yu CY; Yang, Shu-Fen SF; Ho, Cheng-Mao CM; Chen, William Tzu-Liang WT; Chang, Ya-Sian YS
Publication Date: 2016-02-21

Variant appearance in text: rs74318065
PubMed Link: 26900293
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: rs74318065
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer.

Oxidative Medicine And Cellular Longevity
Shinmura, Kazuya K; Goto, Masanori M; Tao, Hong H; Kato, Hisami H; Suzuki, Rie R; Nakamura, Satoki S; Matsuda, Tomonari T; Yin, Guang G; Morita, Makiko M; Kono, Suminori S; Sugimura, Haruhiko H
Publication Date: 2014

Variant appearance in text: rs74318065
PubMed Link: 24799981
Variant Present in the following documents:
  • Main text
  • OMCL2014-617351.pdf
View BVdb publication page