MSH6 c.3284G>A ;(p.R1095H)

Variant ID: 2-48030670-G-A

NM_000179.2(MSH6):c.3284G>A;(p.R1095H)

This variant was identified in 31 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: MSH6: R1095H
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 5
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4
View BVdb publication page



Non-classical phenotypes of mismatch repair deficiency and microsatellite instability in primary and metastatic tumors at different sites in Lynch syndrome.

Frontiers In Oncology
Li, Zhiyu Z; Cheng, Bo B; Liu, Shan S; Ding, Shanshan S; Liu, Jinhong J; Quan, Lanju L; Hao, Yanjiao Y; Xu, Lin L; Zhao, Huan H; Guo, Jing J; Sun, Suozhu S
Publication Date: 2022

Variant appearance in text: MSH6: 3284G>A
PubMed Link: 36591511
Variant Present in the following documents:
  • Main text
  • fonc-12-1004469.pdf
View BVdb publication page



Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology
Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO
Publication Date: 2022-12-22

Variant appearance in text: MSH6: 3284G>A; R1095H
PubMed Link: 36550560
Variant Present in the following documents:
  • 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Reversal of viral and epigenetic HLA class I repression in Merkel cell carcinoma.

The Journal Of Clinical Investigation
Lee, Patrick C PC; Klaeger, Susan S; Le, Phuong M PM; Korthauer, Keegan K; Cheng, Jingwei J; Ananthapadmanabhan, Varsha V; Frost, Thomas C TC; Stevens, Jonathan D JD; Wong, Alan Yl AY; Iorgulescu, J Bryan JB; Tarren, Anna Y AY; Chea, Vipheaviny A VA; Carulli, Isabel P IP; Lemvigh, Camilla K CK; Pedersen, Christina B CB; Gartin, Ashley K AK; Sarkizova, Siranush S; Wright, Kyle T KT; Li, Letitia W LW; Nomburg, Jason J; Li, Shuqiang S; Huang, Teddy T; Liu, Xiaoxi X; Pomerance, Lucas L; Doherty, Laura M LM; Apffel, Annie M AM; Wallace, Luke J LJ; Rachimi, Suzanna S; Felt, Kristen D KD; Wolff, Jacquelyn O JO; Witten, Elizabeth E; Zhang, Wandi W; Neuberg, Donna D; Lane, William J WJ; Zhang, Guanglan G; Olsen, Lars R LR; Thakuria, Manisha M; Rodig, Scott J SJ; Clauser, Karl R KR; Starrett, Gabriel J GJ; Doench, John G JG; Buhrlage, Sara J SJ; Carr, Steven A SA; DeCaprio, James A JA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2022-07-01

Variant appearance in text: MSH6: R1095H
PubMed Link: 35775490
Variant Present in the following documents:
  • jci-132-151666-s199.xlsx, sheet 1
View BVdb publication page



Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis.

Frontiers In Oncology
Kyrochristos, Ioannis D ID; Glantzounis, Georgios K GK; Goussia, Anna A; Eliades, Alexia A; Achilleos, Achilleas A; Tsangaras, Kyriakos K; Hadjidemetriou, Irene I; Elpidorou, Marilena M; Ioannides, Marios M; Koumbaris, George G; Mitsis, Michail M; Patsalis, Philippos C PC; Roukos, Dimitrios D
Publication Date: 2022

Variant appearance in text: MSH6: 3284G>A
PubMed Link: 35402285
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Peritoneal Metastasis After Treated With Abemaciclib Plus Fulvestrant for Metastatic Invasive Lobular Breast Cancer: A Case Report and Review of the Literature.

Frontiers In Endocrinology
Gao, Hong-Fei HF; Zhang, Jun-Sheng JS; Zhang, Qiang-Zu QZ; Zhu, Teng T; Yang, Ci-Qiu CQ; Zhang, Liu-Lu LL; Yang, Mei M; Ji, Fei F; Li, Jie-Qing JQ; Cheng, Min-Yi MY; Niu, Gang G; Wang, Kun K
Publication Date: 2021

Variant appearance in text: MSH6: 3284G>A; R1095H
PubMed Link: 34690920
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 1
View BVdb publication page



Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Genome Medicine
Shin, GiWon G; Greer, Stephanie U SU; Hopmans, Erik E; Grimes, Susan M SM; Lee, HoJoon H; Zhao, Lan L; Miotke, Laura L; Suarez, Carlos C; Almeda, Alison F AF; Haraldsdottir, Sigurdis S; Ji, Hanlee P HP
Publication Date: 2021-09-06

Variant appearance in text: MSH6: R1095H; rs63750253
PubMed Link: 34488871
Variant Present in the following documents:
  • 13073_2021_958_MOESM2_ESM.xlsx, sheet 15
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: MSH6: R1095H
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_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: MSH6: 3284G>A; Arg1095His; rs63750253
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: rs63750253
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp003.xlsx, sheet 3
View BVdb publication page



A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: MSH6: 3284G>A; R1095H
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: MSH6: R1095H
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.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: MSH6: R1095H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: MSH6: 3284G>A; R1095H
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology
Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2020-02

Variant appearance in text: MSH6: R1095H
PubMed Link: 31844290
Variant Present in the following documents:
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 36
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 88
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 4
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 30
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 51
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 81
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 57
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 27
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 2
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 54
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 71
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 5
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 89
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 25
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 64
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 55
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 90
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 29
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 17
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 76
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 6
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 26
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 14
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 77
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 31
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 3
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 16
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 48
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 10
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 91
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 79
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 42
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 53
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 92
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 96
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 58
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 45
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 21
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 4
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 11
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 83
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 7
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 50
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 2
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 12
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 60
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 6
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 52
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 3
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 70
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 9
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 8
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 56
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 32
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 39
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 13
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 15
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 20
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 78
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 72
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: 3284G>A; Arg1095His
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: MSH6: 3284G>A; R1095H
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
  • 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Immunogenomic analyses associate immunological alterations with mismatch repair defects in prostate cancer.

The Journal Of Clinical Investigation
Nava Rodrigues, Daniel D; Rescigno, Pasquale P; Liu, David D; Yuan, Wei W; Carreira, Suzanne S; Lambros, Maryou B MB; Seed, George G; Mateo, Joaquin J; Riisnaes, Ruth R; Mullane, Stephanie S; Margolis, Claire C; Miao, Diana D; Miranda, Susana S; Dolling, David D; Clarke, Matthew M; Bertan, Claudia C; Crespo, Mateus M; Boysen, Gunther G; Ferreira, Ana A; Sharp, Adam A; Figueiredo, Ines I; Keliher, Daniel D; Aldubayan, Saud S; Burke, Kelly P KP; Sumanasuriya, Semini S; Fontes, Mariane Sousa MS; Bianchini, Diletta D; Zafeiriou, Zafeiris Z; Teixeira Mendes, Larissa Sena LS; Mouw, Kent K; Schweizer, Michael T MT; Pritchard, Colin C CC; Salipante, Stephen S; Taplin, Mary-Ellen ME; Beltran, Himisha H; Rubin, Mark A MA; Cieslik, Marcin M; Robinson, Dan D; Heath, Elizabeth E; Schultz, Nikolaus N; Armenia, Joshua J; Abida, Wassim W; Scher, Howard H; Lord, Christopher C; D'Andrea, Alan A; Sawyers, Charles L CL; Chinnaiyan, Arul M AM; Alimonti, Andrea A; Nelson, Peter S PS; Drake, Charles G CG; Van Allen, Eliezer M EM; de Bono, Johann S JS
Publication Date: 2018-10-01

Variant appearance in text: MSH6: R1095H
PubMed Link: 30179225
Variant Present in the following documents:
  • jci-128-121924-s168.xlsx, sheet 1
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: MSH6: R1095H
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, sheet 1
View BVdb publication page



Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09

Variant appearance in text: MSH6: 3284G>A; Arg1095His; rs63750253
PubMed Link: 28944238
Variant Present in the following documents:
  • MGG3-5-553-s002.xlsx, sheet 2
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MSH6: 3284G>A; Arg1095His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget
Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-01-31

Variant appearance in text: MSH6: R1095H; rs63750253
PubMed Link: 28002797
Variant Present in the following documents:
  • oncotarget-08-7852-s002.xlsx, sheet 13
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: 3284G>A; R1095H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MSH6: R1095H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: MSH6: R1095H
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Maxwell, Kara N KN; Wubbenhorst, Bradley B; D'Andrea, Kurt K; Garman, Bradley B; Long, Jessica M JM; Powers, Jacquelyn J; Rathbun, Katherine K; Stopfer, Jill E JE; Zhu, Jiajun J; Bradbury, Angela R AR; Simon, Michael S MS; DeMichele, Angela A; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2015-08

Variant appearance in text: MSH6: R1095H; rs63750253
PubMed Link: 25503501
Variant Present in the following documents:
  • NIHMS641969-supplement-Supplementary_Table_1.xls, sheet 1
View BVdb publication page



Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.

Plos One
Wielders, Eva A L EA; Houlleberghs, Hellen H; Isik, Gözde G; te Riele, Hein H
Publication Date: 2013

Variant appearance in text: MSH6: R1095H
PubMed Link: 24040339
Variant Present in the following documents:
  • Main text
  • pone.0074766.pdf
View BVdb publication page



Colon cancer associated genes exhibit signatures of positive selection at functionally significant positions.

Bmc Evolutionary Biology
Morgan, Claire C CC; Shakya, Kabita K; Webb, Andrew A; Walsh, Thomas A TA; Lynch, Mark M; Loscher, Christine E CE; Ruskin, Heather J HJ; O'Connell, Mary J MJ
Publication Date: 2012-07-12

Variant appearance in text: MSH6: R1095H
PubMed Link: 22788692
Variant Present in the following documents:
  • Main text
  • 1471-2148-12-114.pdf
View BVdb publication page