MLH1 c.1489del ;(p.R497Gfs*11)

Variant ID: 3-37070348-AC-A

NM_000249.3(MLH1):c.1489del;(p.R497Gfs*11)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: MLH1: R497Gfs*11
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
View BVdb publication page



Plasma Cell-Free DNA in Uterine Cervical Cancer: Therapeutic Monitoring and Prognostic Values after Radical Radiotherapy.

Cancer Research And Treatment
Kim, Jae Sik JS; Yang, Sunah S; Jeong, Kyeonghun K; Kim, Dong-Yun DY; Kim, Kwangsoo K; Kang, Hyun-Cheol HC
Publication Date: 2022-12-12

Variant appearance in text: MLH1: 1489delC
PubMed Link: 36510654
Variant Present in the following documents:
  • crt-2022-1440.pdf
View BVdb publication page



Concurrent loss of MLH1, PMS2 and MSH6 immunoexpression in digestive system cancers indicating a widespread dysregulation in DNA repair processes.

Frontiers In Oncology
Reitsam, Nic Gabriel NG; Märkl, Bruno B; Dintner, Sebastian S; Waidhauser, Johanna J; Vlasenko, Dmytro D; Grosser, Bianca B
Publication Date: 2022

Variant appearance in text: MLH1: 1489delC
PubMed Link: 36387226
Variant Present in the following documents:
  • Main text
  • fonc-12-1019798.pdf
View BVdb publication page



InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer
Publication Date: 2022-10

Variant appearance in text: MLH1: 1489delC
PubMed Link: 36260238
Variant Present in the following documents:
  • 10689_2022_Article_312.pdf
View BVdb publication page



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: MLH1: 1484delC; Arg497Glyfs*11
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.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: 1489del; R497Gfs*11
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.

Cancers
Golubicki, Mariano M; Díaz-Gay, Marcos M; Bonjoch, Laia L; Franch-Expósito, Sebastià S; Muñoz, Jenifer J; Cuatrecasas, Miriam M; Ocaña, Teresa T; Iseas, Soledad S; Mendez, Guillermo G; Carballido, Marcela M; Robbio, Juan J; Cisterna, Daniel D; Roca, Enrique E; Castells, Antoni A; Balaguer, Francesc F; Castellví-Bel, Sergi S; Antelo, Marina M
Publication Date: 2021-03-12

Variant appearance in text: MLH1: 1489delC; Arg497fs
PubMed Link: 33809179
Variant Present in the following documents:
  • Main text
  • cancers-13-01259.pdf
View BVdb publication page



Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Cancer Communications (London, England)
Ferrer-Avargues, Rosario R; Castillejo, María Isabel MI; Dámaso, Estela E; Díez-Obrero, Virginia V; Garrigos, Noemí N; Molina, Tatiana T; Codoñer-Alejos, Alan A; Segura, Ángel Á; Sánchez-Heras, Ana Beatriz AB; Castillejo, Adela A; Soto, José Luis JL
Publication Date: 2021-03

Variant appearance in text: MLH1: 1489del; Arg497Glyfs
PubMed Link: 33630411
Variant Present in the following documents:
  • CAC2-41-218-s001.xlsx, sheet 3
  • CAC2-41-218-s001.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: MLH1: R497Gfs*11
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



MSH6 immunohistochemical heterogeneity in colorectal cancer: comparative sequencing from different tumor areas.

Human Pathology
Chen, Wei W; Pearlman, Rachel R; Hampel, Heather H; Pritchard, Colin C CC; Markow, Michael M; Arnold, Christina C; Knight, Deborah D; Frankel, Wendy L WL
Publication Date: 2020-02

Variant appearance in text: MLH1: 1489del; R497Gfs*11
PubMed Link: 31783044
Variant Present in the following documents:
  • Main text
View BVdb publication page



Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Human Mutation
Watson, Christopher M CM; Crinnion, Laura A LA; Morgan, Joanne E JE; Harrison, Sally M SM; Diggle, Christine P CP; Adlard, Julian J; Lindsay, Helen A HA; Camm, Nick N; Charlton, Ruth R; Sheridan, Eamonn E; Bonthron, David T DT; Taylor, Graham R GR; Carr, Ian M IM
Publication Date: 2014-04

Variant appearance in text: MLH1: 1489del; Arg497Glyfs*11
PubMed Link: 24307375
Variant Present in the following documents:
  • Main text
View BVdb publication page