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: L435P

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: MSH6: 1304T>C

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

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: 1304T>C; Leu435Pro

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: 1304T>C; Leu435Pro; rs63751405

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics

Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,

Publication Date: 2020

Variant appearance in text: MSH6: 1304T>C; Leu435Pro

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

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Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.

Cancer

Kim, Soyoun Rachel SR; Tone, Alicia A; Kim, Raymond H RH; Cesari, Matthew M; Clarke, Blaise A BA; Eiriksson, Lua L; Hart, Tae T; Aronson, Melyssa M; Holter, Spring S; Lytwyn, Alice A; Maganti, Manjula M; Oldfield, Leslie L; Gallinger, Steven S; Bernardini, Marcus Q MQ; Oza, Amit M AM; Djordjevic, Bojana B; Lerner-Ellis, Jordan J; Van de Laar, Emily E; Vicus, Danielle D; Pugh, Trevor J TJ; Pollett, Aaron A; Ferguson, Sarah E SE

Publication Date: 2020-11-15

Variant appearance in text: MSH6: 1304T>C; Leu435Pro

PubMed Link: 32809219

Variant Present in the following documents:

• CNCR-126-4886.pdf

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: 1304T>C; L435P

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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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: 1304T>C; Leu435Pro

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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: 1304T>C; L435P

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.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: 1304T>C; Leu435Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: 1304T>C; L435P

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

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: L435P

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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Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.

Human Mutation

Kantelinen, Jukka J; Kansikas, Minttu M; Candelin, Satu S; Hampel, Heather H; Smith, Betsy B; Holm, Liisa L; Kariola, Reetta R; Nyström, Minna M

Publication Date: 2012-08

Variant appearance in text: MSH6: 1304T>C; Leu435Pro

PubMed Link: 22581703

Variant Present in the following documents:

• Main text

View BVdb publication page

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