MLH1 c.889G>T ;(p.E297*)

Variant ID: 3-37061805-G-T

NM_000249.3(MLH1):c.889G>T;(p.E297*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Immune Activation following Irbesartan Treatment in a Colorectal Cancer Patient: A Case Study.

International Journal Of Molecular Sciences
Titmuss, E E; Milne, K K; Jones, M R MR; Ng, T T; Topham, J T JT; Brown, S D SD; Schaeffer, D F DF; Kalloger, S S; Wilson, D D; Corbett, R D RD; Williamson, L M LM; Mungall, K K; Mungall, A J AJ; Holt, R A RA; Nelson, B H BH; Jones, S J M SJM; Laskin, J J; Lim, H J HJ; Marra, M A MA
Publication Date: 2023-03-20

Variant appearance in text: MLH1: E297*
PubMed Link: 36982943
Variant Present in the following documents:
  • Main text
  • ijms-24-05869.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MLH1: 889G>T; Glu297Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The impact of whole genome and transcriptome analysis (WGTA) on predictive biomarker discovery and diagnostic accuracy of advanced malignancies.

The Journal Of Pathology. Clinical Research
Tessier-Cloutier, Basile B; Grewal, Jasleen K JK; Jones, Martin R MR; Pleasance, Erin E; Shen, Yaoqing Y; Cai, Ellen E; Dunham, Chris C; Hoang, Lynn L; Horst, Basil B; Huntsman, David G DG; Ionescu, Diana D; Karnezis, Anthony N AN; Lee, Anna F AF; Lee, Cheng Han CH; Lee, Tae Hoon TH; Twa, David Dw DD; Mungall, Andrew J AJ; Mungall, Karen K; Naso, Julia R JR; Ng, Tony T; Schaeffer, David F DF; Sheffield, Brandon S BS; Skinnider, Brian B; Smith, Tyler T; Williamson, Laura L; Zhong, Ellia E; Regier, Dean A DA; Laskin, Janessa J; Marra, Marco A MA; Gilks, C Blake CB; Jones, Steven Jm SJ; Yip, Stephen S
Publication Date: 2022-07

Variant appearance in text: MLH1: 889G>T; Glu297Ter
PubMed Link: 35257510
Variant Present in the following documents:
  • CJP2-8-395-s002.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MLH1: 889G>T; Glu297Ter; rs63750736
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.

International Journal Of Cancer
Vos, Janet R JR; Fakkert, Ingrid E IE; Spruijt, Liesbeth L; Willems, Riki W RW; Langenveld, Sera S; Mensenkamp, Arjen R AR; Leter, Edward M EM; Nagtegaal, Iris D ID; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; ,
Publication Date: 2020-10-15

Variant appearance in text: MLH1: 889G>T; Glu297*
PubMed Link: 32510614
Variant Present in the following documents:
  • IJC-147-2150-s001.pdf
View BVdb publication page



Response to angiotensin blockade with irbesartan in a patient with metastatic colorectal cancer.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Jones, M R MR; Schrader, K A KA; Shen, Y Y; Pleasance, E E; Ch'ng, C C; Dar, N N; Yip, S S; Renouf, D J DJ; Schein, J E JE; Mungall, A J AJ; Zhao, Y Y; Moore, R R; Ma, Y Y; Sheffield, B S BS; Ng, T T; Jones, S J M SJ; Marra, M A MA; Laskin, J J; Lim, H J HJ
Publication Date: 2016-05

Variant appearance in text: MLH1: 889G>T; Glu297*; rs63750736
PubMed Link: 27022066
Variant Present in the following documents:
  • supp_mdw060_mdw060supp_table2.xlsx, sheet 2
View BVdb publication page