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: PMS2: N775S

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: PMS2: 2324A>G

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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Prognostication of early-onset endometrioid endometrial cancer based on genome-wide DNA methylation profiles.

Journal Of Gynecologic Oncology

Hirano, Takuro T; Arai, Eri E; Fujimoto, Mao M; Nakayama, Yuji Y; Tian, Ying Y; Ito, Nanako N; Makabe, Takeshi T; Yamagami, Wataru W; Susumu, Nobuyuki N; Aoki, Daisuke D; Kanai, Yae Y

Publication Date: 2022-11

Variant appearance in text: PMS2: 2324A>G; Asn775Ser

PubMed Link: 36047377

Variant Present in the following documents:

• jgo-33-e74-s005.xls, sheet 1

View BVdb publication page

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Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.

Human Mutation

Rayner, Emily E; Tiersma, Yvonne Y; Fortuno, Cristina C; van Hees-Stuivenberg, Sandrine S; Drost, Mark M; Thompson, Bryony B; Spurdle, Amanda B AB; de Wind, Niels N

Publication Date: 2022-09

Variant appearance in text: PMS2: Asn775Ser

PubMed Link: 35451539

Variant Present in the following documents:

• Main text
• HUMU-43-1249.pdf

View BVdb publication page

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Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer

Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y

Publication Date: 2022-04-21

Variant appearance in text: PMS2: 2324A>G; N775S; rs17420802

PubMed Link: 35449176

Variant Present in the following documents:

• 41523_2022_417_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: PMS2: 2324A>G; N775S; rs17420802

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: PMS2: 2324A>G; N775S; rs17420802

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.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: rs17420802

PubMed Link: 34253785

Variant Present in the following documents:

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

View BVdb publication page

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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: rs17420802

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp003.xlsx, sheet 4
• jmedgenet-2021-107886supp007.xlsx, sheet 1
• jmedgenet-2021-107886supp006.xlsx, sheet 4

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: PMS2: 2324A>G; Asn775Ser

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

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: PMS2: 2324A>G; N775S

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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Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer.

Cancer Management And Research

Liccardo, Raffaella R; Della Ragione, Carlo C; Mitilini, Nunzio N; De Rosa, Marina M; Izzo, Paola P; Duraturo, Francesca F

Publication Date: 2019

Variant appearance in text: PMS2: 2324A>G

PubMed Link: 31410062

Variant Present in the following documents:

• Main text
• cmar-11-6719.pdf

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: PMS2: 2324A>G; Asn775Ser

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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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: PMS2: N775S

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 3
• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 5

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: PMS2: 2324A>G; N775S

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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A novel molecular diagnostics platform for somatic and germline precision oncology.

Molecular Genetics & Genomic Medicine

Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J

Publication Date: 2017-07

Variant appearance in text: PMS2: 2324A>G; N775S

PubMed Link: 28717660

Variant Present in the following documents:

• MGG3-5-336-s006.xlsx, sheet 9

View BVdb publication page

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Bioinformatory-assisted analysis of next-generation sequencing data for precision medicine in pancreatic cancer.

Molecular Oncology

Malgerud, Linnéa L; Lindberg, Johan J; Wirta, Valtteri V; Gustafsson-Liljefors, Maria M; Karimi, Masoud M; Moro, Carlos Fernández CF; Stecker, Katrin K; Picker, Alexander A; Huelsewig, Carolin C; Stein, Martin M; Bohnert, Regina R; Del Chiaro, Marco M; Haas, Stephan L SL; Heuchel, Rainer L RL; Permert, Johan J; Maeurer, Markus J MJ; Brock, Stephan S; Verbeke, Caroline S CS; Engstrand, Lars L; Jackson, David B DB; Grönberg, Henrik H; Löhr, Johannes Matthias JM

Publication Date: 2017-10

Variant appearance in text: PMS2: N775S; rs17420802

PubMed Link: 28675654

Variant Present in the following documents:

• MOL2-11-1413-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: PMS2: 2324A>G; Asn775Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Scientific Reports

Castellanos, Elisabeth E; Gel, Bernat B; Rosas, Inma I; Tornero, Eva E; Santín, Sheila S; Pluvinet, Raquel R; Velasco, Juan J; Sumoy, Lauro L; Del Valle, Jesús J; Perucho, Manuel M; Blanco, Ignacio I; Navarro, Matilde M; Brunet, Joan J; Pineda, Marta M; Feliubadaló, Lidia L; Capellá, Gabi G; Lázaro, Conxi C; Serra, Eduard E

Publication Date: 2017-01-04

Variant appearance in text: rs17420802

PubMed Link: 28051113

Variant Present in the following documents:

• srep39348-s1.pdf

View BVdb publication page

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Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.

World Journal Of Gastroenterology

Chang, Yuli Christine YC; Chang, Jan-Gowth JG; Liu, Ta-Chih TC; Lin, Chien-Yu CY; Yang, Shu-Fen SF; Ho, Cheng-Mao CM; Chen, William Tzu-Liang WT; Chang, Ya-Sian YS

Publication Date: 2016-02-21

Variant appearance in text: PMS2: 2324A>G; Asn775Ser; rs17420802

PubMed Link: 26900293

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

Oncotarget

Lin, Po-Han PH; Kuo, Wen-Hung WH; Huang, Ai-Chu AC; Lu, Yen-Shen YS; Lin, Ching-Hung CH; Kuo, Sung-Hsin SH; Wang, Ming-Yang MY; Liu, Chun-Yu CY; Cheng, Fiona Tsui-Fen FT; Yeh, Ming-Hsin MH; Li, Huei-Ying HY; Yang, Yu-Hsuan YH; Hsu, Yu-Hua YH; Fan, Sheng-Chih SC; Li, Long-Yuan LY; Yu, Sung-Liang SL; Chang, King-Jen KJ; Chen, Pei-Lung PL; Ni, Yen-Hsuan YH; Huang, Chiun-Sheng CS

Publication Date: 2016-02-16

Variant appearance in text: PMS2: N775S

PubMed Link: 26824983

Variant Present in the following documents:

• oncotarget-07-8310.pdf

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: rs17420802

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: PMS2: N775S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: PMS2: N775S

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: PMS2: N775S; rs17420802

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.

Clinical Genetics

Clendenning, M M; Macrae, F A FA; Walsh, M D MD; Walters, R J RJ; Thibodeau, S N SN; Gunawardena, S R SR; Potter, J D JD; Haile, R W RW; Gallinger, S S; , ; Hopper, J L JL; Jenkins, M A MA; Rosty, C C; Young, J P JP; Buchanan, D D DD

Publication Date: 2013-06

Variant appearance in text: PMS2: 2324A>G; Asn775Ser

PubMed Link: 23017166

Variant Present in the following documents:

• Main text

View BVdb publication page

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Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Human Mutation

Thompson, Bryony A BA; Greenblatt, Marc S MS; Vallee, Maxime P MP; Herkert, Johanna C JC; Tessereau, Chloe C; Young, Erin L EL; Adzhubey, Ivan A IA; Li, Biao B; Bell, Russell R; Feng, Bingjian B; Mooney, Sean D SD; Radivojac, Predrag P; Sunyaev, Shamil R SR; Frebourg, Thierry T; Hofstra, Robert M W RM; Sijmons, Rolf H RH; Boucher, Ken K; Thomas, Alun A; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV

Publication Date: 2013-01

Variant appearance in text: PMS2: Asn775Ser

PubMed Link: 22949387

Variant Present in the following documents:

• Main text

View BVdb publication page

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Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

Genes, Chromosomes & Cancer

Wernstedt, Annekatrin A; Valtorta, Emanuele E; Armelao, Franco F; Togni, Roberto R; Girlando, Salvatore S; Baudis, Michael M; Heinimann, Karl K; Messiaen, Ludwine L; Staehli, Noemie N; Zschocke, Johannes J; Marra, Giancarlo G; Wimmer, Katharina K

Publication Date: 2012-09

Variant appearance in text: PMS2: N775S

PubMed Link: 22585707

Variant Present in the following documents:

• Main text
• gcc0051-0819.pdf

View BVdb publication page

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DNA mismatch repair network gene polymorphism as a susceptibility factor for pancreatic cancer.

Molecular Carcinogenesis

Dong, Xiaoqun X; Li, Yanan Y; Chang, Ping P; Hess, Kenneth R KR; Abbruzzese, James L JL; Li, Donghui D

Publication Date: 2012-06

Variant appearance in text: PMS2: N775S

PubMed Link: 21681824

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal cancer.

World Journal Of Gastroenterology

Sheng, Xia X; Zhou, Heng-Hua HH; Zhou, Xiao-Yan XY; Du, Xiang X; Zhang, Tai-Ming TM; Cai, San-Jun SJ; Sheng, Wei-Qi WQ; Shi, Da-Ren DR

Publication Date: 2010-08-14

Variant appearance in text: PMS2: 2324A>G; Asn775Ser

PubMed Link: 20698049

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.

Human Mutation

Ganster, Christina C; Wernstedt, Annekatrin A; Kehrer-Sawatzki, Hildegard H; Messiaen, Ludwine L; Schmidt, Konrad K; Rahner, Nils N; Heinimann, Karl K; Fonatsch, Christa C; Zschocke, Johannes J; Wimmer, Katharina K

Publication Date: 2010-05

Variant appearance in text: PMS2: 2324A>G; N775S

PubMed Link: 20186689

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Martinez, Sandra L SL; Kolodner, Richard D RD

Publication Date: 2010-03-16

Variant appearance in text: PMS2: N775S

PubMed Link: 20176959

Variant Present in the following documents:

• Main text

View BVdb publication page

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