Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: PMS2: 903G>T; Lys301Asn; rs267608153

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: K301N

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: 903G>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.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: PMS2: 903G>T; Lys301Asn

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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PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps.

Global Medical Genetics

Poaty, Henriette H; Bouya, Lauria Batamba LB; Lumaka, Aimé A; Mongo-Onkouo, Arnaud A; Gassaye, Deby D

Publication Date: 2023-01

Variant appearance in text: PMS2: Lys301Asn

PubMed Link: 36644715

Variant Present in the following documents:

• Main text
• 10-1055-s-0042-1759888.pdf

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: Lys301Asn

PubMed Link: 35451539

Variant Present in the following documents:

• Main text
• HUMU-43-1249.pdf

View BVdb publication page

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Novel Insights From the Germline Landscape of Breast Cancer in Brazil.

Frontiers In Oncology

Barbalho, Daniel D; Sandoval, Renata R; Santos, Erika E; Pisani, Janina J; Quirino, Carla C; Garicochea, Bernardo B; Rossi, Benedito B; Achatz, Maria Isabel MI

Publication Date: 2021

Variant appearance in text: PMS2: 903G>T; Lys301Asn

PubMed Link: 35155181

Variant Present in the following documents:

• Main text
• fonc-11-743231.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: PMS2: 903G>T; Lys301Asn; rs267608153

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Adenosquamous Carcinoma of the Gallbladder With Sarcomatoid Features.

Acg Case Reports Journal

Majeed, Nasma K NK; Younes, Ismail Elbaz IE; Karimi, Saman S; Garzon, Steven S

Publication Date: 2020-09

Variant appearance in text: PMS2: K301N

PubMed Link: 33062794

Variant Present in the following documents:

• Main text
• ac9-7-e00461.pdf

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: 903G>T; Lys301Asn

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

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Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.

Neuro-Oncology Advances

Guerrini-Rousseau, Léa L; Varlet, Pascale P; Colas, Chrystelle C; Andreiuolo, Felipe F; Bourdeaut, Franck F; Dahan, Karin K; Devalck, Christine C; Faure-Conter, Cécile C; Genuardi, Maurizio M; Goldberg, Yael Y; Kuhlen, Michaela M; Moalla, Salma S; Opocher, Enrico E; Perez-Alonso, Vanessa V; Sehested, Astrid A; Slavc, Irene I; Unger, Sheila S; Wimmer, Katharina K; Grill, Jacques J; Brugières, Laurence L

Publication Date: 2019

Variant appearance in text: PMS2: 903G>T; Lys301Asn

PubMed Link: 32642664

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Lynch syndrome-associated mutation at a Bergerat ATP-binding fold destabilizes the structure of the DNA mismatch repair endonuclease MutL.

The Journal Of Biological Chemistry

Izuhara, Keisuke K; Fukui, Kenji K; Murakawa, Takeshi T; Baba, Seiki S; Kumasaka, Takashi T; Uchiyama, Kazuhisa K; Yano, Takato T

Publication Date: 2020-08-14

Variant appearance in text: PMS2: K301N

PubMed Link: 32571878

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.

Journal Of Clinical Medicine

Álvarez, Karin K; Orellana, Paulina P; De la Fuente, Marjorie M; Canales, Tamara T; Pinto, Eliana E; Heine, Claudio C; Solar, Benjamín B; Hurtado, Claudia C; Møller, Pål P; Kronberg, Udo U; Zarate, Alejandro José AJ; Dominguez-Valentin, Mev M; López-Köstner, Francisco F

Publication Date: 2020-06-15

Variant appearance in text: PMS2: 903G>T; K301N

PubMed Link: 32549215

Variant Present in the following documents:

• Main text
• jcm-09-01861.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: PMS2: 903G>T; Lys301Asn

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1
• pgen.1008409.s003.xlsx, sheet 1

View BVdb publication page

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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

Journal Of Medical Genetics

González-Acosta, Maribel M; Marín, Fátima F; Puliafito, Benjamin B; Bonifaci, Nuria N; Fernández, Anna A; Navarro, Matilde M; Salvador, Hector H; Balaguer, Francesc F; Iglesias, Silvia S; Velasco, Angela A; Grau Garces, Elia E; Moreno, Victor V; Gonzalez-Granado, Luis Ignacio LI; Guerra-García, Pilar P; Ayala, Rosa R; Florkin, Benoît B; Kratz, Christian C; Ripperger, Tim T; Rosenbaum, Thorsten T; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Ragab, Iman I; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Lobitz, Stephan S; Suerink, Manon M; Dahan, Karin K; Imschweiler, Thomas T; Demirsoy, Ugur U; Brunet, Joan J; Lázaro, Conxi C; Rueda, Daniel D; Wimmer, Katharina K; Capellá, Gabriel G; Pineda, Marta M

Publication Date: 2020-04

Variant appearance in text: PMS2: 903G>T

PubMed Link: 31494577

Variant Present in the following documents:

• jmedgenet-2019-106272supp001.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: PMS2: 903G>T; K301N

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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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

European Journal Of Human Genetics : Ejhg

Morak, Monika M; Schaefer, Kerstin K; Steinke-Lange, Verena V; Koehler, Udo U; Keinath, Susanne S; Massdorf, Trisari T; Mauracher, Brigitte B; Rahner, Nils N; Bailey, Jessica J; Kling, Christiane C; Haeusser, Tanja T; Laner, Andreas A; Holinski-Feder, Elke E

Publication Date: 2019-12

Variant appearance in text: PMS2: 903G>T; Lys301Asn

PubMed Link: 31332305

Variant Present in the following documents:

• Main text

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: 903G>T; Lys301Asn

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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Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.

Plos One

Martin-Morales, Lorena L; Rofes, Paula P; Diaz-Rubio, Eduardo E; Llovet, Patricia P; Lorca, Victor V; Bando, Inmaculada I; Perez-Segura, Pedro P; de la Hoya, Miguel M; Garre, Pilar P; Garcia-Barberan, Vanesa V; Caldes, Trinidad T

Publication Date: 2018

Variant appearance in text: PMS2: 903G>T

PubMed Link: 30256826

Variant Present in the following documents:

• Main text
• pone.0203885.pdf

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: 903G>T; K301N

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Truty, Rebecca R; Paul, Joshua J; Kennemer, Michael M; Lincoln, Stephen E SE; Olivares, Eric E; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-01

Variant appearance in text: PMS2: 903G>T

PubMed Link: 29895855

Variant Present in the following documents:

• 41436_2018_33_MOESM4_ESM.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: 903G>T; Lys301Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

Molecular Genetics & Genomic Medicine

van der Klift, Heleen M HM; Jansen, Anne M L AM; van der Steenstraten, Niki N; Bik, Elsa C EC; Tops, Carli M J CM; Devilee, Peter P; Wijnen, Juul T JT

Publication Date: 2015-07

Variant appearance in text: PMS2: 903G>T; Lys301Asn

PubMed Link: 26247049

Variant Present in the following documents:

• Main text
• mgg30003-0327.pdf

View BVdb publication page

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Recurrent and founder mutations in the PMS2 gene.

Clinical Genetics

Tomsic, J J; Senter, L L; Liyanarachchi, S S; Clendenning, M M; Vaughn, C P CP; Jenkins, M A MA; Hopper, J L JL; Young, J J; Samowitz, W W; de la Chapelle, A A

Publication Date: 2013-03

Variant appearance in text: PMS2: 903G>T

PubMed Link: 22577899

Variant Present in the following documents:

• Main text

View BVdb publication page

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The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

Gastroenterology

Senter, Leigha L; Clendenning, Mark M; Sotamaa, Kaisa K; Hampel, Heather H; Green, Jane J; Potter, John D JD; Lindblom, Annika A; Lagerstedt, Kristina K; Thibodeau, Stephen N SN; Lindor, Noralane M NM; Young, Joanne J; Winship, Ingrid I; Dowty, James G JG; White, Darren M DM; Hopper, John L JL; Baglietto, Laura L; Jenkins, Mark A MA; de la Chapelle, Albert A

Publication Date: 2008-08

Variant appearance in text: PMS2: 903G>T

PubMed Link: 18602922

Variant Present in the following documents:

• Main text

View BVdb publication page

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