Publications:

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Multi-Gene Next-Generation Sequencing Panel for Analysis of BRCA1/BRCA2 and Homologous Recombination Repair Genes Alterations Metastatic Castration-Resistant Prostate Cancer.

International Journal Of Molecular Sciences

Maloberti, Thais T; De Leo, Antonio A; Coluccelli, Sara S; Sanza, Viviana V; Gruppioni, Elisa E; Altimari, Annalisa A; Zagnoni, Stefano S; Giunchi, Francesca F; Vasuri, Francesco F; Fiorentino, Michelangelo M; Mollica, Veronica V; Ferrari, Simona S; Miccoli, Sara S; Visani, Michela M; Turchetti, Daniela D; Massari, Francesco F; Tallini, Giovanni G; de Biase, Dario D

Publication Date: 2023-05-18

Variant appearance in text: MLH1: 794G>A

PubMed Link: 37240284

Variant Present in the following documents:

• Main text
• ijms-24-08940.pdf

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: MLH1: 794G>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology

Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A

Publication Date: 2022-02

Variant appearance in text: rs63751448

PubMed Link: 34494161

Variant Present in the following documents:

• 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
• 428_2021_3186_MOESM21_ESM.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: HNPCC2: R265H; rs63751448

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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: MLH1: 794G>A; Arg265His; rs63751448

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp003.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Human Mutation

Felicio, Paula S PS; Grasel, Rebeca S RS; Campacci, Natalia N; de Paula, Andre E AE; Galvão, Henrique C R HCR; Torrezan, Giovana T GT; Sabato, Cristina S CS; Fernandes, Gabriela C GC; Souza, Cristiano P CP; Michelli, Rodrigo D RD; Andrade, Carlos E CE; Barros, Bruna Durães De Figueiredo BDF; Matsushita, Marcus M MM; Revil, Timothée T; Ragoussis, Jiannis J; Couch, Fergus J FJ; Hart, Steven N SN; Reis, Rui M RM; Melendez, Matias E ME; Tonin, Patricia N PN; Carraro, Dirce M DM; Palmero, Edenir I EI

Publication Date: 2021-03

Variant appearance in text: MLH1: 794G>A; Arg265His

PubMed Link: 33326660

Variant Present in the following documents:

• Main text
• HUMU-42-290.pdf

View BVdb publication page

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Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Human Mutation

Felicio, Paula S PS; Grasel, Rebeca S RS; Campacci, Natalia N; de Paula, Andre E AE; Galvão, Henrique C R HCR; Torrezan, Giovana T GT; Sabato, Cristina S CS; Fernandes, Gabriela C GC; Souza, Cristiano P CP; Michelli, Rodrigo D RD; Andrade, Carlos E CE; Barros, Bruna Durães De Figueiredo BDF; Matsushita, Marcus M MM; Revil, Timothée T; Ragoussis, Jiannis J; Couch, Fergus J FJ; Hart, Steven N SN; Reis, Rui M RM; Melendez, Matias E ME; Tonin, Patricia N PN; Carraro, Dirce M DM; Palmero, Edenir I EI

Publication Date: 2021-03

Variant appearance in text: MLH1: 794G>A; Arg265His

PubMed Link: 33326660

Variant Present in the following documents:

• Main text
• HUMU-42-290.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: MLH1: 794G>A; Arg265His

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: MLH1: R265H

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.

Journal Of Medical Genetics

Garrett, Alice A; Callaway, Alison A; Durkie, Miranda M; Cubuk, Cankut C; Alikian, Mary M; Burghel, George J GJ; Robinson, Rachel R; Izatt, Louise L; Talukdar, Sabrina S; Side, Lucy L; Cranston, Treena T; Palmer-Smith, Sheila S; Baralle, Diana D; Berry, Ian R IR; Drummond, James J; Wallace, Andrew J AJ; Norbury, Gail G; Eccles, Diana M DM; Ellard, Sian S; Lalloo, Fiona F; Evans, D Gareth DG; Woodward, Emma E; Tischkowitz, Marc M; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2020-12

Variant appearance in text: MLH1: 794G>A; Arg265His

PubMed Link: 32170000

Variant Present in the following documents:

• jmedgenet-2019-106759supp002.pdf

View BVdb publication page

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Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Elife

Abildgaard, Amanda B AB; Stein, Amelie A; Nielsen, Sofie V SV; Schultz-Knudsen, Katrine K; Papaleo, Elena E; Shrikhande, Amruta A; Hoffmann, Eva R ER; Bernstein, Inge I; Gerdes, Anne-Marie AM; Takahashi, Masanobu M; Ishioka, Chikashi C; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R

Publication Date: 2019-11-07

Variant appearance in text: MLH1: R265H

PubMed Link: 31697235

Variant Present in the following documents:

• Main text
• elife-49138.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: R265H; rs63751448

PubMed Link: 31613886

Variant Present in the following documents:

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

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: MLH1: 794G>A; Arg265His

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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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: 794G>A; Arg265His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

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

Nykamp, Keith K; Anderson, Michael M; Powers, Martin M; Garcia, John J; Herrera, Blanca B; Ho, Yuan-Yuan YY; Kobayashi, Yuya Y; Patil, Nila N; Thusberg, Janita J; Westbrook, Marjorie M; , ; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MLH1: Arg265His

PubMed Link: 28492532

Variant Present in the following documents:

• Main text
• gim201737a.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: MLH1: R265H

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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The genetic landscape of dural marginal zone lymphomas.

Oncotarget

Ganapathi, Karthik A KA; Jobanputra, Vaidehi V; Iwamoto, Fabio F; Jain, Preti P; Chen, Jinli J; Cascione, Luciano L; Nahum, Odelia O; Levy, Brynn B; Xie, Yi Y; Khattar, Pallavi P; Hoehn, Daniela D; Bertoni, Francesco F; Murty, Vundavalli V VV; Pittaluga, Stefania S; Jaffe, Elaine S ES; Alobeid, Bachir B; Mansukhani, Mahesh M MM; Bhagat, Govind G

Publication Date: 2016-07-12

Variant appearance in text: MLH1: 794G>A; R265H

PubMed Link: 27248180

Variant Present in the following documents:

• oncotarget-07-43052-s003.xlsx, sheet 1

View BVdb publication page

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Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.

Plos Genetics

Soukarieh, Omar O; Gaildrat, Pascaline P; Hamieh, Mohamad M; Drouet, Aurélie A; Baert-Desurmont, Stéphanie S; Frébourg, Thierry T; Tosi, Mario M; Martins, Alexandra A

Publication Date: 2016-01

Variant appearance in text: MLH1: 794G>A; Arg265His

PubMed Link: 26761715

Variant Present in the following documents:

• Main text
• pgen.1005756.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: HNPCC2: R265H

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: R265H

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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Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

Human Mutation

van der Velde, K Joeri KJ; Kuiper, Joël J; Thompson, Bryony A BA; Plazzer, John-Paul JP; van Valkenhoef, Gert G; de Haan, Mark M; Jongbloed, Jan D H JD; Wijmenga, Cisca C; de Koning, Tom J TJ; Abbott, Kristin M KM; Sinke, Richard R; Spurdle, Amanda B AB; Macrae, Finlay F; Genuardi, Maurizio M; Sijmons, Rolf H RH; Swertz, Morris A MA; ,

Publication Date: 2015-07

Variant appearance in text: MLH1: 794G>A

PubMed Link: 25871441

Variant Present in the following documents:

• Main text
• HUMU-36-712.pdf

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: MLH1: R265H

PubMed Link: 20176959

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Nucleic Acids Research

Desmet, François-Olivier FO; Hamroun, Dalil D; Lalande, Marine M; Collod-Béroud, Gwenaëlle G; Claustres, Mireille M; Béroud, Christophe C

Publication Date: 2009-05

Variant appearance in text: MLH1: 794G>A

PubMed Link: 19339519

Variant Present in the following documents:

• Main text
• gkp215.pdf

View BVdb publication page

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