MSH6 c.1774G>A ;(p.V592I)

Variant ID: 2-48026896-G-A

NM_000179.2(MSH6):c.1774G>A;(p.V592I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.

Frontiers In Oncology
Schwartz, Alison A; Manning, Danielle K DK; Koeller, Diane R DR; Chittenden, Anu A; Isidro, Raymond A RA; Hayes, Connor P CP; Abraamyan, Feruza F; Manam, Monica Devi MD; Dwan, Meaghan M; Barletta, Justine A JA; Sholl, Lynette M LM; Yurgelun, Matthew B MB; Rana, Huma Q HQ; Garber, Judy E JE; Ghazani, Arezou A AA
Publication Date: 2022

Variant appearance in text: MSH6: 1774G>A; Val592Ile; rs1558662912
PubMed Link: 36091175
Variant Present in the following documents:
  • Main text
  • Table_3.xlsx, sheet 1
  • fonc-12-942741.pdf
View BVdb publication page



Rates of Variants of Uncertain Significance Among Patients With Breast Cancer Undergoing Genetic Testing: Regional Perspectives.

Frontiers In Oncology
Abdel-Razeq, Hikmat H; Tamimi, Faris F; Abujamous, Lama L; Abdel-Razeq, Rashid R; Abunasser, Mahmoud M; Edaily, Sara S; Abdulelah, Hazem H; Khashabeh, Razan Abu RA; Bater, Rayan R
Publication Date: 2022

Variant appearance in text: MSH6: 1774G>A; Val592Ile
PubMed Link: 35402282
Variant Present in the following documents:
  • Main text
  • fonc-12-673094.pdf
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: MSH6: 1774G>A; Val592Ile
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020

Variant appearance in text: MSH6: 1774G>A; V592I
PubMed Link: 32489320
Variant Present in the following documents:
  • 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia
Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2017-07

Variant appearance in text: MSH6: V592I
PubMed Link: 27899802
Variant Present in the following documents:
  • leu2016365x3.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: MSH6: 1774G>A; V592I
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page