Publications:

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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

Journal Of Translational Medicine

Walker, Romy R; Mahmood, Khalid K; Joo, Jihoon E JE; Clendenning, Mark M; Georgeson, Peter P; Como, Julia J; Joseland, Sharelle S; Preston, Susan G SG; Antill, Yoland Y; Austin, Rachel R; Boussioutas, Alex A; Bowman, Michelle M; Burke, Jo J; Campbell, Ainsley A; Daneshvar, Simin S; Edwards, Emma E; Gleeson, Margaret M; Goodwin, Annabel A; Harris, Marion T MT; Henderson, Alex A; Higgins, Megan M; Hopper, John L JL; Hutchinson, Ryan A RA; Ip, Emilia E; Isbister, Joanne J; Kasem, Kais K; Marfan, Helen H; Milnes, Di D; Ng, Annabelle A; Nichols, Cassandra C; O'Connell, Shona S; Pachter, Nicholas N; Pope, Bernard J BJ; Poplawski, Nicola N; Ragunathan, Abiramy A; Smyth, Courtney C; Spigelman, Allan A; Storey, Kirsty K; Susman, Rachel R; Taylor, Jessica A JA; Warwick, Linda L; Wilding, Mathilda M; Williams, Rachel R; Win, Aung K AK; Walsh, Michael D MD; Macrae, Finlay A FA; Jenkins, Mark A MA; Rosty, Christophe C; Winship, Ingrid M IM; Buchanan, Daniel D DD; ,

Publication Date: 2023-04-26

Variant appearance in text: MLH1: 85G>T

PubMed Link: 37101184

Variant Present in the following documents:

• 12967_2023_Article_4143.pdf

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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

Medrxiv : The Preprint Server For Health Sciences

Walker, Romy R; Mahmood, Khalid K; Joo, Jihoon E JE; Clendenning, Mark M; Georgeson, Peter P; Como, Julia J; Joseland, Sharelle S; Preston, Susan G SG; Antill, Yoland Y; Austin, Rachel R; Boussioutas, Alex A; Bowman, Michelle M; Burke, Jo J; Campbell, Ainsley A; Daneshvar, Simin S; Edwards, Emma E; Gleeson, Margaret M; Goodwin, Annabel A; Harris, Marion T MT; Henderson, Alex A; Higgins, Megan M; Hopper, John L JL; Hutchinson, Ryan A RA; Ip, Emilia E; Isbister, Joanne J; Kasem, Kais K; Marfan, Helen H; Milnes, Di D; Ng, Annabelle A; Nichols, Cassandra C; Oâ Connell, Shona S; Pachter, Nicholas N; Pope, Bernard J BJ; Poplawski, Nicola N; Ragunathan, Abiramy A; Smyth, Courtney C; Spigelman, Allan A; Storey, Kirsty K; Susman, Rachel R; Taylor, Jessica A JA; Warwick, Linda L; Wilding, Mathilda M; Williams, Rachel R; Win, Aung K AK; Walsh, Michael D MD; Macrae, Finlay A FA; Jenkins, Mark A MA; Rosty, Christophe C; Winship, Ingrid M IM; Buchanan, Daniel D DD; ,

Publication Date: 2023-03-01

Variant appearance in text: MLH1: 85G>T

PubMed Link: 36909643

Variant Present in the following documents:

• nihpp-2023.02.27.23285541v1.pdf

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Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology

Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO

Publication Date: 2022-12-22

Variant appearance in text: MLH1: 85G>T; A29S

PubMed Link: 36550560

Variant Present in the following documents:

• 13059_2022_2839_MOESM4_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: A29S; rs63750656

PubMed Link: 34253785

Variant Present in the following documents:

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

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DNA Methylation in the Diagnosis of Monogenic Diseases.

Genes

Cerrato, Flavia F; Sparago, Angela A; Ariani, Francesca F; Brugnoletti, Fulvia F; Calzari, Luciano L; Coppedè, Fabio F; De Luca, Alessandro A; Gervasini, Cristina C; Giardina, Emiliano E; Gurrieri, Fiorella F; Lo Nigro, Cristiana C; Merla, Giuseppe G; Miozzo, Monica M; Russo, Silvia S; Sangiorgi, Eugenio E; Sirchia, Silvia M SM; Squeo, Gabriella Maria GM; Tabano, Silvia S; Tabolacci, Elisabetta E; Torrente, Isabella I; Genuardi, Maurizio M; Neri, Giovanni G; Riccio, Andrea A

Publication Date: 2020-03-26

Variant appearance in text: MLH1: 85G>T

PubMed Link: 32224912

Variant Present in the following documents:

• Main text
• genes-11-00355.pdf

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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: A29S

PubMed Link: 31697235

Variant Present in the following documents:

• Main text
• elife-49138.pdf

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Primary constitutional MLH1 epimutations: a focal epigenetic event.

British Journal Of Cancer

Dámaso, Estela E; Castillejo, Adela A; Arias, María Del Mar MDM; Canet-Hermida, Julia J; Navarro, Matilde M; Del Valle, Jesús J; Campos, Olga O; Fernández, Anna A; Marín, Fátima F; Turchetti, Daniela D; García-Díaz, Juan de Dios JD; Lázaro, Conxi C; Genuardi, Maurizio M; Rueda, Daniel D; Alonso, Ángel Á; Soto, Jose Luis JL; Hitchins, Megan M; Pineda, Marta M; Capellá, Gabriel G

Publication Date: 2018-10

Variant appearance in text: MLH1: 85G>T

PubMed Link: 30283143

Variant Present in the following documents:

• 41416_2018_Article_19.pdf

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Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation.

Cancer Medicine

Pinto, Diana D; Pinto, Carla C; Guerra, Joana J; Pinheiro, Manuela M; Santos, Rui R; Vedeld, Hege Marie HM; Yohannes, Zeremariam Z; Peixoto, Ana A; Santos, Catarina C; Pinto, Pedro P; Lopes, Paula P; Lothe, Ragnhild R; Lind, Guro Elisabeth GE; Henrique, Rui R; Teixeira, Manuel R MR

Publication Date: 2018-02

Variant appearance in text: MLH1: 85G>T; Ala29Ser

PubMed Link: 29341452

Variant Present in the following documents:

• Main text
• CAM4-7-433.pdf

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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: 85G>T; Ala29Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: MLH1: A29S

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: MLH1: 85G>T; A29S

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

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Methylation Analysis of DNA Mismatch Repair Genes Using DNA Derived from the Peripheral Blood of Patients with Endometrial Cancer: Epimutation in Endometrial Carcinogenesis.

Genes

Takeda, Takashi T; Banno, Kouji K; Yanokura, Megumi M; Adachi, Masataka M; Iijima, Moito M; Kunitomi, Haruko H; Nakamura, Kanako K; Iida, Miho M; Nogami, Yuya Y; Umene, Kiyoko K; Masuda, Kenta K; Kobayashi, Yusuke Y; Yamagami, Wataru W; Hirasawa, Akira A; Tominaga, Eiichiro E; Susumu, Nobuyuki N; Aoki, Daisuke D

Publication Date: 2016-10-14

Variant appearance in text: MLH1: 85G>T

PubMed Link: 27754426

Variant Present in the following documents:

• Main text
• genes-07-00086.pdf

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The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery.

Cellular Oncology (Dordrecht)

Hahn, M M MM; de Voer, R M RM; Hoogerbrugge, N N; Ligtenberg, M J L MJ; Kuiper, R P RP; van Kessel, A Geurts AG

Publication Date: 2016-12

Variant appearance in text: MLH1: 85G>T

PubMed Link: 27279102

Variant Present in the following documents:

• 13402_2016_Article_284.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: A29S

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: A29S

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: 85G>T

PubMed Link: 25871441

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.

Human Mutation

Hesson, Luke B LB; Packham, Deborah D; Kwok, Chau-To CT; Nunez, Andrea C AC; Ng, Benedict B; Schmidt, Christa C; Fields, Michael M; Wong, Jason W H JW; Sloane, Mathew A MA; Ward, Robyn L RL

Publication Date: 2015-06

Variant appearance in text: MLH1: 85G>T

PubMed Link: 25762362

Variant Present in the following documents:

• humu0036-0622.pdf

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MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria.

Epigenetics

Crucianelli, Francesca F; Tricarico, Rossella R; Turchetti, Daniela D; Gorelli, Greta G; Gensini, Francesca F; Sestini, Roberta R; Giunti, Laura L; Pedroni, Monica M; Ponz de Leon, Maurizio M; Civitelli, Serenella S; Genuardi, Maurizio M

Publication Date: 2014-10

Variant appearance in text: MLH1: 85G>T

PubMed Link: 25437057

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human transgenerational responses to early-life experience: potential impact on development, health and biomedical research.

Journal Of Medical Genetics

Pembrey, Marcus M; Saffery, Richard R; Bygren, Lars Olov LO; , ; ,

Publication Date: 2014-09

Variant appearance in text: MLH1: 85G>T

PubMed Link: 25062846

Variant Present in the following documents:

• jmedgenet-2014-102577.pdf

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The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.

European Journal Of Human Genetics : Ejhg

Kwok, Chau-To CT; Vogelaar, Ingrid P IP; van Zelst-Stams, Wendy A WA; Mensenkamp, Arjen R AR; Ligtenberg, Marjolijn J MJ; Rapkins, Robert W RW; Ward, Robyn L RL; Chun, Nicolette N; Ford, James M JM; Ladabaum, Uri U; McKinnon, Wendy C WC; Greenblatt, Marc S MS; Hitchins, Megan P MP

Publication Date: 2014-05

Variant appearance in text: MLH1: 85G>T; A29S

PubMed Link: 24084575

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: MLH1: Ala29Ser

PubMed Link: 22949387

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry.

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

Ward, Robyn L RL; Dobbins, Timothy T; Lindor, Noralane M NM; Rapkins, Robert W RW; Hitchins, Megan P MP

Publication Date: 2013-01

Variant appearance in text: MLH1: 85G>T

PubMed Link: 22878509

Variant Present in the following documents:

• Main text
• gim201291a.pdf

View BVdb publication page

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MLH1 methylation screening is effective in identifying epimutation carriers.

European Journal Of Human Genetics : Ejhg

Pineda, Marta M; Mur, Pilar P; Iniesta, María Dolores MD; Borràs, Ester E; Campos, Olga O; Vargas, Gardenia G; Iglesias, Sílvia S; Fernández, Anna A; Gruber, Stephen B SB; Lázaro, Conxi C; Brunet, Joan J; Navarro, Matilde M; Blanco, Ignacio I; Capellá, Gabriel G

Publication Date: 2012-12

Variant appearance in text: MLH1: 85G>T

PubMed Link: 22763379

Variant Present in the following documents:

• Main text

View BVdb publication page

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Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Human Mutation

Kansikas, Minttu M; Kariola, Reetta R; Nyström, Minna M

Publication Date: 2011-01

Variant appearance in text: MLH1: 85G>T; A29S

PubMed Link: 21120944

Variant Present in the following documents:

• humu0032-0107.pdf

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Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

American Journal Of Human Genetics

Wagner, Anja A; Barrows, Alicia A; Wijnen, Juul Th JT; van der Klift, Heleen H; Franken, Patrick F PF; Verkuijlen, Paul P; Nakagawa, Hidewaki H; Geugien, Marjan M; Jaghmohan-Changur, Shantie S; Breukel, Cor C; Meijers-Heijboer, Hanne H; Morreau, Hans H; van Puijenbroek, Marjo M; Burn, John J; Coronel, Stephany S; Kinarski, Yulia Y; Okimoto, Ross R; Watson, Patrice P; Lynch, Jane F JF; de la Chapelle, Albert A; Lynch, Henry T HT; Fodde, Riccardo R

Publication Date: 2003-05

Variant appearance in text: MLH1: A29S

PubMed Link: 12658575

Variant Present in the following documents:

• Main text

View BVdb publication page

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