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: MLH1: A441T

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Isolated MLH1 Loss by Immunohistochemistry Because of Benign Germline MLH1 Polymorphisms.

Jco Precision Oncology

Bosch, Dustin E DE; Yeh, Matthew M MM; Salipante, Stephen J SJ; Jacobson, Angela A; Cohen, Stacey A SA; Konnick, Eric Q EQ; Paulson, Vera A VA

Publication Date: 2022-08

Variant appearance in text: MLH1: A441T

PubMed Link: 36044719

Variant Present in the following documents:

• Main text
• po-6-e2200227.pdf

View BVdb publication page

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Circulating Cell-Free DNA-Based Comprehensive Molecular Analysis of Biliary Tract Cancers Using Next-Generation Sequencing.

Cancers

Csoma, Szilvia Lilla SL; Bedekovics, Judit J; Veres, Gergő G; Árokszállási, Anita A; András, Csilla C; Méhes, Gábor G; Mokánszki, Attila A

Publication Date: 2022-01-04

Variant appearance in text: MLH1: 1321G>A; Ala441Thr

PubMed Link: 35008396

Variant Present in the following documents:

• Main text

View BVdb publication page

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Circulating Cell-Free DNA-Based Comprehensive Molecular Analysis of Biliary Tract Cancers Using Next-Generation Sequencing.

Cancers

Csoma, Szilvia Lilla SL; Bedekovics, Judit J; Veres, Gergő G; Árokszállási, Anita A; András, Csilla C; Méhes, Gábor G; Mokánszki, Attila A

Publication Date: 2022-01-04

Variant appearance in text: MLH1: 1321G>A; Ala441Thr

PubMed Link: 35008396

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg

McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER

Publication Date: 2022-03

Variant appearance in text: MLH1: 1321G>A

PubMed Link: 34983940

Variant Present in the following documents:

• 41431_2021_1013_MOESM1_ESM.pdf

View BVdb publication page

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Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Therapeutic Advances In Medical Oncology

Scheipl, Susanne S; Brcic, Iva I; Moser, Tina T; Fischerauer, Stefan S; Riedl, Jakob J; Bergovec, Marko M; Smolle, Maria M; Posch, Florian F; Gerger, Armin A; Pichler, Martin M; Stoeger, Herbert H; Leithner, Andreas A; Heitzer, Ellen E; Liegl-Atzwanger, Bernadette B; Szkandera, Joanna J

Publication Date: 2021

Variant appearance in text: MLH1: A441T

PubMed Link: 34367342

Variant Present in the following documents:

• sj-xlsx-1-tam-10.1177_17588359211029125.xlsx, sheet 1

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: MLH1: 1321G>A; Ala441Thr; rs63750365

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.

Frontiers In Oncology

Nikitin, Aleksey G AG; Chudakova, Daria A DA; Enikeev, Rafael F RF; Sakaeva, Dina D; Druzhkov, Maxim M; Shigapova, Leyla H LH; Brovkina, Olga I OI; Shagimardanova, Elena I EI; Gusev, Oleg A OA; Gordiev, Marat G MG

Publication Date: 2020

Variant appearance in text: MLH1: 1321G>A

PubMed Link: 32547938

Variant Present in the following documents:

• Main text
• fonc-10-00666.pdf

View BVdb publication page

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: MLH1: A441T; rs63750365

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 6
• pcbi.1007453.s004.xlsx, sheet 7
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: MLH1: 1321G>A; A441T; rs63750365

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

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: MLH1: 1321G>A; A441T

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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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: MLH1: 1321G>A; A441T

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Oncotarget

Raskin, Leon L; Guo, Yan Y; Du, Liping L; Clendenning, Mark M; Rosty, Christophe C; , ; Lindor, Noralane M NM; Gruber, Stephen B SB; Buchanan, Daniel D DD

Publication Date: 2017-11-07

Variant appearance in text: MLH1: A441T; rs63750365

PubMed Link: 29212164

Variant Present in the following documents:

• oncotarget-08-93450-s002.xlsx, sheet 1

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: MLH1: 1321G>A; Ala441Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.

Bmc Medical Genomics

Cheng, Donavan T DT; Prasad, Meera M; Chekaluk, Yvonne Y; Benayed, Ryma R; Sadowska, Justyna J; Zehir, Ahmet A; Syed, Aijazuddin A; Wang, Yan Elsa YE; Somar, Joshua J; Li, Yirong Y; Yelskaya, Zarina Z; Wong, Donna D; Robson, Mark E ME; Offit, Kenneth K; Berger, Michael F MF; Nafa, Khedoudja K; Ladanyi, Marc M; Zhang, Liying L

Publication Date: 2017-05-19

Variant appearance in text: MLH1: A441T

PubMed Link: 28526081

Variant Present in the following documents:

• Main text
• 12920_2017_Article_271.pdf

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: MLH1: A441T; rs63750365

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 11

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HNPCC2: A441T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.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: MLH1: A441T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: MLH1: A441T

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

Human Mutation

Thompson, Bryony A BA; Goldgar, David E DE; Paterson, Carol C; Clendenning, Mark M; Walters, Rhiannon R; Arnold, Sven S; Parsons, Michael T MT; Michael D, Walsh W; Gallinger, Steven S; Haile, Robert W RW; Hopper, John L JL; Jenkins, Mark A MA; Lemarchand, Loic L; Lindor, Noralane M NM; Newcomb, Polly A PA; Thibodeau, Stephen N SN; , ; Young, Joanne P JP; Buchanan, Daniel D DD; Tavtigian, Sean V SV; Spurdle, Amanda B AB

Publication Date: 2013-01

Variant appearance in text: MLH1: 1321G>A; Ala441Thr

PubMed Link: 22949379

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association

Limburg, Paul J PJ; Harmsen, William S WS; Chen, Helen H HH; Gallinger, Steven S; Haile, Robert W RW; Baron, John A JA; Casey, Graham G; Woods, Michael O MO; Thibodeau, Stephen N SN; Lindor, Noralane M NM

Publication Date: 2011-06

Variant appearance in text: MLH1: 1321G>A; A441T

PubMed Link: 21056691

Variant Present in the following documents:

• Main text

View BVdb publication page

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Some aspects of molecular diagnostics in Lynch syndrome.

Hereditary Cancer In Clinical Practice

Kurzawski, Grzegorz G

Publication Date: 2006-12-15

Variant appearance in text: MLH1: 1321G>A; A441T

PubMed Link: 20223024

Variant Present in the following documents:

• Main text
• 1897-4287-4-4-197.pdf

View BVdb publication page

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