MSH6 c.1295T>C ;(p.F432S)

Variant ID: 2-48026417-T-C

NM_000179.2(MSH6):c.1295T>C;(p.F432S)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test.

Cancers
Kim, Yoo-Na YN; Kim, Min Kyu MK; Lee, Young Joo YJ; Lee, Youngeun Y; Sohn, Ji Yeon JY; Lee, Jung-Yun JY; Choi, Min Chul MC; Kim, Migang M; Jung, Sang Geun SG; Joo, Won Duk WD; Lee, Chan C
Publication Date: 2022-07-13

Variant appearance in text: MSH6: 1295T>C
PubMed Link: 35884469
Variant Present in the following documents:
  • cancers-14-03406.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: 1295T>C; Phe432Ser; rs750528093
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Drost, Mark M; Tiersma, Yvonne Y; Glubb, Dylan D; Kathe, Scott S; van Hees, Sandrine S; Calléja, Fabienne F; Zonneveld, José B M JBM; Boucher, Kenneth M KM; Ramlal, Renuka P E RPE; Thompson, Bryony A BA; Rasmussen, Lene Juel LJ; Greenblatt, Marc S MS; Lee, Andrea A; Spurdle, Amanda B AB; Tavtigian, Sean V SV; de Wind, Niels N
Publication Date: 2020-05

Variant appearance in text: MSH6: F432S
PubMed Link: 31965077
Variant Present in the following documents:
  • 41436_2019_Article_736.pdf
View BVdb publication page



Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G
Publication Date: 2020-04

Variant appearance in text: MSH6: 1295T>C; Phe432Ser
PubMed Link: 31844177
Variant Present in the following documents:
  • 41436_2019_720_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: MSH6: 1295T>C; F432S
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MSH6: 1295T>C; Phe432Ser
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas.

Genome Medicine
Buckley, Alexandra R AR; Ideker, Trey T; Carter, Hannah H; Harismendy, Olivier O; Schork, Nicholas J NJ
Publication Date: 2018-09-14

Variant appearance in text: MSH6: F432S
PubMed Link: 30217226
Variant Present in the following documents:
  • 13073_2018_579_MOESM1_ESM.pdf
View BVdb publication page



A Bayesian framework for efficient and accurate variant prediction.

Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Publication Date: 2018

Variant appearance in text: MSH6: 1295T>C; F432S
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.

Cancer Prevention Research (Philadelphia, Pa.)
Borras, Ester E; Chang, Kyle K; Pande, Mala M; Cuddy, Amanda A; Bosch, Jennifer L JL; Bannon, Sarah A SA; Mork, Maureen E ME; Rodriguez-Bigas, Miguel A MA; Taggart, Melissa W MW; Lynch, Patrick M PM; You, Y Nancy YN; Vilar, Eduardo E
Publication Date: 2017-10

Variant appearance in text: MSH6: 1295T>C; F432S
PubMed Link: 28765196
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: MSH6: 1295T>C; F432S
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
View BVdb publication page



Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome.

Gynecologic Oncology
Batte, Brittany A L BA; Bruegl, Amanda S AS; Daniels, Molly S MS; Ring, Kari L KL; Dempsey, Katherine M KM; Djordjevic, Bojana B; Luthra, Rajyalakshmi R; Fellman, Bryan M BM; Lu, Karen H KH; Broaddus, Russell R RR
Publication Date: 2014-08

Variant appearance in text: MSH6: 1295T>C; F432S
PubMed Link: 24933100
Variant Present in the following documents:
  • Main text
View BVdb publication page