Publications:

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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: MSH2: 1276G>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Familial Cancer

Aziz, Shahram S; O'Sullivan, Hazel H; Heelan, Kara K; Alam, Afrina A; McVeigh, Terri P TP

Publication Date: 2022-11-23

Variant appearance in text: MSH2: 1276G>A; Gly426Arg

PubMed Link: 36418753

Variant Present in the following documents:

• 10689_2022_319_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: MSH2: G426R

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.

European Journal Of Human Genetics : Ejhg

Morak, Monika M; Pineda, Marta M; Martins, Alexandra A; Gaildrat, Pascaline P; Tubeuf, Hélène H; Drouet, Aurélie A; Gómez, Carolina C; Dámaso, Estela E; Schaefer, Kerstin K; Steinke-Lange, Verena V; Koehler, Udo U; Laner, Andreas A; Hauchard, Julie J; Chauris, Karine K; Holinski-Feder, Elke E; Capellá, Gabriel G

Publication Date: 2022-09

Variant appearance in text: MSH2: 1276G>A; Gly426Arg

PubMed Link: 35676339

Variant Present in the following documents:

• Main text
• 41431_2022_Article_1106.pdf
• 41431_2022_1106_MOESM4_ESM.pdf
• 41431_2022_1106_MOESM5_ESM.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: MSH2: 1276G>A; Gly426Arg

PubMed Link: 34253785

Variant Present in the following documents:

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

View BVdb publication page

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Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia.

Cancers

Cuatrecasas, Míriam M; Gorostiaga, Iñigo I; Riera, Cristina C; Saperas, Esteban E; Llort, Gemma G; Costa, Irmgard I; Matias-Guiu, Xavier X; Carrato, Cristina C; Navarro, Matilde M; Pineda, Marta M; Dueñas, Núria N; Brunet, Joan J; Marco, Vicente V; Trias, Isabel I; Busteros, José Ignacio JI; Mateu, Gemma G; Balaguer, Francesc F; Fernández-Figueras, María-Teresa MT; Esteller, Manel M; Musulén, Eva E

Publication Date: 2020-09-29

Variant appearance in text: MSH2: 1276G>A

PubMed Link: 33003511

Variant Present in the following documents:

• cancers-12-02803-s001.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: MSH2: 1276G>A; Gly426Arg

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

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Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.

Bmc Cancer

Thodi, Georgia G; Fostira, Florentia F; Sandaltzopoulos, Raphael R; Nasioulas, George G; Grivas, Anastasios A; Boukovinas, Ioannis I; Mylonaki, Maria M; Panopoulos, Christos C; Magic, Mirjana Brankovic MB; Fountzilas, George G; Yannoukakos, Drakoulis D

Publication Date: 2010-10-11

Variant appearance in text: MSH2: 1276G>A

PubMed Link: 20937110

Variant Present in the following documents:

• Main text
• 1471-2407-10-544.pdf

View BVdb publication page

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