Publications:

---

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: MSH2: G315V

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

---

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: MSH2: 944G>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: MSH2: G315V; rs202026056

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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: MSH2: 944G>T; Gly315Val; rs202026056

PubMed Link: 34253785

Variant Present in the following documents:

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

View BVdb publication page

---

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: MSH2: 944G>T; Gly315Val

PubMed Link: 32849802

Variant Present in the following documents:

• Main text
• Data_Sheet_1.xlsx, sheet 3
• Data_Sheet_1.xlsx, sheet 1
• fgene-11-00798.pdf

View BVdb publication page

---

Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: MSH2: 944G>T; G315V; rs202026056

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

---

Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients.

Hereditary Cancer In Clinical Practice

Rashid, Muhammad Usman MU; Naeemi, Humaira H; Muhammad, Noor N; Loya, Asif A; Lubiński, Jan J; Jakubowska, Anna A; Yusuf, Muhammed Aasim MA

Publication Date: 2019

Variant appearance in text: rs202026056

PubMed Link: 31660093

Variant Present in the following documents:

• Main text
• 13053_2019_Article_128.pdf

View BVdb publication page

---

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: MSH2: G315V; rs202026056

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

---

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: MSH2: 944G>T; G315V

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: MSH2: 944G>T; Gly315Val

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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: MSH2: 944G>T; G315V

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

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: MSH2: G315V

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

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: MSH2: 944G>T; Gly315Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: MSH2: 944G>T; G315V

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Tung, Nadine N; Lin, Nancy U NU; Kidd, John J; Allen, Brian A BA; Singh, Nanda N; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Winer, Eric P EP; Garber, Judy E JE

Publication Date: 2016-05-01

Variant appearance in text: MSH2: 944G>T; Gly315Val

PubMed Link: 26976419

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adults.

Molecular Genetics & Genomic Medicine

Pillar, Nir N; Isakov, Ofer O; Weissglas-Volkov, Daphna D; Botchan, Shay S; Friedman, Eitan E; Arber, Nadir N; Shomron, Noam N

Publication Date: 2015-09

Variant appearance in text: rs202026056

PubMed Link: 26436109

Variant Present in the following documents:

• Main text
• mgg30003-0433.pdf

View BVdb publication page

---

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Nature Communications

Carmi, Shai S; Hui, Ken Y KY; Kochav, Ethan E; Liu, Xinmin X; Xue, James J; Grady, Fillan F; Guha, Saurav S; Upadhyay, Kinnari K; Ben-Avraham, Dan D; Mukherjee, Semanti S; Bowen, B Monica BM; Thomas, Tinu T; Vijai, Joseph J; Cruts, Marc M; Froyen, Guy G; Lambrechts, Diether D; Plaisance, Stéphane S; Van Broeckhoven, Christine C; Van Damme, Philip P; Van Marck, Herwig H; Barzilai, Nir N; Darvasi, Ariel A; Offit, Kenneth K; Bressman, Susan S; Ozelius, Laurie J LJ; Peter, Inga I; Cho, Judy H JH; Ostrer, Harry H; Atzmon, Gil G; Clark, Lorraine N LN; Lencz, Todd T; Pe'er, Itsik I

Publication Date: 2014-09-09

Variant appearance in text: MSH2: G315V

PubMed Link: 25203624

Variant Present in the following documents:

• ncomms5835-s5.xlsx, sheet 4

View BVdb publication page

---

Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.

Cancer Research

Mueller, James J; Gazzoli, Isabella I; Bandipalliam, Prathap P; Garber, Judy E JE; Syngal, Sapna S; Kolodner, Richard D RD

Publication Date: 2009-09-01

Variant appearance in text: MSH2: 944G>T; G315V

PubMed Link: 19690142

Variant Present in the following documents:

• Main text

View BVdb publication page

---