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: MSH2: 2041C>T; Gln681Ter; rs730881762

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.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: MSH2: 2041C>T; Gln681Ter

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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Transcriptional differentiation of Trypanosoma brucei during in vitro acquisition of resistance to acoziborole.

Plos Neglected Tropical Diseases

Steketee, Pieter C PC; Giordani, Federica F; Vincent, Isabel M IM; Crouch, Kathryn K; Achcar, Fiona F; Dickens, Nicholas J NJ; Morrison, Liam J LJ; MacLeod, Annette A; Barrett, Michael P MP

Publication Date: 2021-11

Variant appearance in text: MSH2: 2041C>T

PubMed Link: 34752454

Variant Present in the following documents:

• pntd.0009939.s005.xlsx, sheet 2

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: 2041C>T; Q681X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.

Neuro-Oncology Advances

Cantero, Diana D; Mollejo, Manuela M; Sepúlveda, Juan M JM; D'Haene, Nicky N; Gutiérrez-Guamán, Myriam J MJ; Rodríguez de Lope, Ángel Á; Fiaño, Concepción C; Castresana, Javier S JS; Lebrun, Laetitia L; Rey, Juan A JA; Salmon, Isabelle I; Meléndez, Bárbara B; Hernández-Laín, Aurelio A

Publication Date: 2020

Variant appearance in text: MSH2: Q681*

PubMed Link: 32642724

Variant Present in the following documents:

• Main text
• vdz059.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: MSH2: 2041C>T; Gln681X

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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Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Oncotarget

Fountzilas, Elena E; Kotoula, Vassiliki V; Tikas, Ioannis I; Manousou, Kyriaki K; Papadopoulou, Kyriaki K; Poulios, Christos C; Karavasilis, Vasilios V; Efstratiou, Ioannis I; Pectasides, Dimitrios D; Papaparaskeva, Kleo K; Varthalitis, Ioannis I; Christodoulou, Christos C; Papatsibas, George G; Chrisafi, Sofia S; Glantzounis, Georgios K GK; Psyrri, Amanda A; Aravantinos, Gerasimos G; Koliou, Georgia-Angeliki GA; Koukoulis, George K GK; Pentheroudakis, George E GE; Fountzilas, George G

Publication Date: 2018-11-02

Variant appearance in text: MSH2: Gln681Ter

PubMed Link: 30479693

Variant Present in the following documents:

• oncotarget-09-35623-s001.pdf

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: MSH2: 2041C>T

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

View BVdb publication page

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Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

Plos One

Liu, Yanqun Y; Chew, Min Hoe MH; Goh, Xue Wei XW; Tan, Soo Yong SY; Loi, Carol Tien Tau CT; Tan, Yuen Ming YM; Law, Hai Yang HY; Koh, Poh Koon PK; Tang, Choong Leong CL

Publication Date: 2014

Variant appearance in text: MSH2: 2041C>T; Gln681X

PubMed Link: 24710284

Variant Present in the following documents:

• Main text
• pone.0094170.pdf

View BVdb publication page

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