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: N/A

PubMed Link: 36922933

Variant Present in the following documents:

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: MSH2: 1A>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.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: MSH2: 1A>T; M1L; rs267607911

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Nature Communications

Schwartz, Jason R JR; Ma, Jing J; Kamens, Jennifer J; Westover, Tamara T; Walsh, Michael P MP; Brady, Samuel W SW; Robert Michael, J J; Chen, Xiaolong X; Montefiori, Lindsey L; Song, Guangchun G; Wu, Gang G; Wu, Huiyun H; Branstetter, Cristyn C; Hiltenbrand, Ryan R; Walsh, Michael F MF; Nichols, Kim E KE; Maciaszek, Jamie L JL; Liu, Yanling Y; Kumar, Priyadarshini P; Easton, John J; Newman, Scott S; Rubnitz, Jeffrey E JE; Mullighan, Charles G CG; Pounds, Stanley S; Zhang, Jinghui J; Gruber, Tanja T; Ma, Xiaotu X; Klco, Jeffery M JM

Publication Date: 2021-02-12

Variant appearance in text: rs267607911

PubMed Link: 33579957

Variant Present in the following documents:

• 41467_2021_21255_MOESM15_ESM.xlsx, sheet 1

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: 1A>T

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

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The effects of genomic germline variant reclassification on clinical cancer care.

Oncotarget

Slavin, Thomas P TP; Manjarrez, Sophia S; Pritchard, Colin C CC; Gray, Stacy S; Weitzel, Jeffrey N JN

Publication Date: 2019-01-11

Variant appearance in text: MSH2: Met1Leu

PubMed Link: 30728895

Variant Present in the following documents:

• Main text
• oncotarget-10-417.pdf

View BVdb publication page

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Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications

North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ

Publication Date: 2018-05-14

Variant appearance in text: MSH-2: M1L

PubMed Link: 29760388

Variant Present in the following documents:

• 41467_2018_4008_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.

The Lancet. Gastroenterology & Hepatology

Fewings, Eleanor E; Larionov, Alexey A; Redman, James J; Goldgraben, Mae A MA; Scarth, James J; Richardson, Susan S; Brewer, Carole C; Davidson, Rosemarie R; Ellis, Ian I; Evans, D Gareth DG; Halliday, Dorothy D; Izatt, Louise L; Marks, Peter P; McConnell, Vivienne V; Verbist, Louis L; Mayes, Rebecca R; Clark, Graeme R GR; Hadfield, James J; Chin, Suet-Feung SF; Teixeira, Manuel R MR; Giger, Olivier T OT; Hardwick, Richard R; di Pietro, Massimiliano M; O'Donovan, Maria M; Pharoah, Paul P; Caldas, Carlos C; Fitzgerald, Rebecca C RC; Tischkowitz, Marc M

Publication Date: 2018-07

Variant appearance in text: rs267607911

PubMed Link: 29706558

Variant Present in the following documents:

• Main text

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: MSH2: 1A>T; Met1Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.

Human Genetics

Yang, Xiaohong R XR; Rotunno, Melissa M; Xiao, Yanzi Y; Ingvar, Christian C; Helgadottir, Hildur H; Pastorino, Lorenza L; van Doorn, Remco R; Bennett, Hunter H; Graham, Cole C; Sampson, Joshua N JN; Malasky, Michael M; Vogt, Aurelie A; Zhu, Bin B; Bianchi-Scarra, Giovanna G; Bruno, William W; Queirolo, Paola P; Fornarini, Giuseppe G; Hansson, Johan J; Tuominen, Rainer R; Burdett, Laurie L; Hicks, Belynda B; Hutchinson, Amy A; Jones, Kristine K; Yeager, Meredith M; Chanock, Stephen J SJ; Landi, Maria Teresa MT; Höiom, Veronica V; Olsson, Håkan H; Gruis, Nelleke N; Ghiorzo, Paola P; Tucker, Margaret A MA; Goldstein, Alisa M AM

Publication Date: 2016-11

Variant appearance in text: rs267607911

PubMed Link: 27449771

Variant Present in the following documents:

• Main text

View BVdb publication page

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The predicted truncation from a cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complex.

Molecular Carcinogenesis

Cyr, Jennifer L JL; Brown, Graham D GD; Stroop, Jennifer J; Heinen, Christopher D CD

Publication Date: 2012-08

Variant appearance in text: MSH2: 1A>T

PubMed Link: 21837758

Variant Present in the following documents:

• Main text

View BVdb publication page

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Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.

European Journal Of Human Genetics : Ejhg

Kets, Carolien M CM; Hoogerbrugge, Nicoline N; van Krieken, Joannes H J M JH; Goossens, Monique M; Brunner, Han G HG; Ligtenberg, Marjolijn J L MJ

Publication Date: 2009-02

Variant appearance in text: MSH2: 1A>T

PubMed Link: 18781192

Variant Present in the following documents:

• Main text

View BVdb publication page

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