Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: MSH6: E1193K

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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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: MSH6: 3577G>A; Glu1193Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

International Journal Of Molecular Sciences

Frederiksen, Jane H JH; Jensen, Sara B SB; Tümer, Zeynep Z; Hansen, Thomas V O TVO

Publication Date: 2021-08-11

Variant appearance in text: MSH6: Glu1193Lys

PubMed Link: 34445333

Variant Present in the following documents:

• Main text
• ijms-22-08627.pdf

View BVdb publication page

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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: 3577G>A; Glu1193Lys; rs63751328

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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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: 3577G>A; E1193K

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: MSH6: E1193K; rs63751328

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: 3577G>A; E1193K

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: MSH6: E1193K

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: 3577G>A; Glu1193Lys; rs63751328

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

View BVdb publication page

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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: 3577G>A; Glu1193Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Plos Genetics

Houlleberghs, Hellen H; Goverde, Anne A; Lusseveld, Jarnick J; Dekker, Marleen M; Bruno, Marco J MJ; Menko, Fred H FH; Mensenkamp, Arjen R AR; Spaander, Manon C W MCW; Wagner, Anja A; Hofstra, Robert M W RMW; Te Riele, Hein H

Publication Date: 2017-05

Variant appearance in text: MSH6: E1193K

PubMed Link: 28531214

Variant Present in the following documents:

• Main text
• pgen.1006765.pdf

View BVdb publication page

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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: E1193K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

Journal Of Biomedical Science

Terui, Hiroko H; Akagi, Kiwamu K; Kawame, Hiroshi H; Yura, Kei K

Publication Date: 2013-04-28

Variant appearance in text: MSH6: E1193K

PubMed Link: 23621914

Variant Present in the following documents:

• Main text

View BVdb publication page

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Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Human Mutation

Kansikas, Minttu M; Kariola, Reetta R; Nyström, Minna M

Publication Date: 2011-01

Variant appearance in text: MSH6: 3577G>A; E1193K

PubMed Link: 21120944

Variant Present in the following documents:

• Main text
• humu0032-0107.pdf

View BVdb publication page

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MSH6 missense mutations are often associated with no or low cancer susceptibility.

British Journal Of Cancer

Kariola, R R; Hampel, H H; Frankel, W L WL; Raevaara, T E TE; de la Chapelle, A A; Nyström-Lahti, M M

Publication Date: 2004-10-04

Variant appearance in text: MSH6: E1193K

PubMed Link: 15354210

Variant Present in the following documents:

• Main text
• 91-6602129a.pdf

View BVdb publication page

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