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: 835C>G; Leu279Val; rs375351205

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: MSH2: 835C>G; L279V

PubMed Link: 36550560

Variant Present in the following documents:

• 13059_2022_2839_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.

Nature Genetics

Rouhani, Foad J FJ; Zou, Xueqing X; Danecek, Petr P; Badja, Cherif C; Amarante, Tauanne Dias TD; Koh, Gene G; Wu, Qianxin Q; Memari, Yasin Y; Durbin, Richard R; Martincorena, Inigo I; Bassett, Andrew R AR; Gaffney, Daniel D; Nik-Zainal, Serena S

Publication Date: 2022-09

Variant appearance in text: MSH2: L279V

PubMed Link: 35953586

Variant Present in the following documents:

• 41588_2022_1147_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Germline variant testing in serrated polyposis syndrome.

Journal Of Gastroenterology And Hepatology

Murphy, Aisling A; Solomons, Joyce J; Risby, Peter P; Gabriel, Jessica J; Bedenham, Tina T; Johnson, Michael M; Atkinson, Nathan N; Bailey, Adam A AA; Bird-Lieberman, Elizabeth E; Leedham, Simon J SJ; East, James E JE; Biswas, Sujata S

Publication Date: 2022-05

Variant appearance in text: MSH2: 835C>G; Leu279Val

PubMed Link: 35128723

Variant Present in the following documents:

• Main text
• JGH-37-861.pdf

View BVdb publication page

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

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

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: MSH2: 835C>G; L279V

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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: 835C>G; Leu279Val; rs375351205

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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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: 835C>G; Leu279Val

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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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: 835C>G; Leu279Val; rs375351205

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

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: 835C>G; Leu279Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Tung, Nadine N; Lin, Nancy U NU; Kidd, John J; Allen, Brian A BA; Singh, Nanda N; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Winer, Eric P EP; Garber, Judy E JE

Publication Date: 2016-05-01

Variant appearance in text: MSH2: 835C>G; Leu279Val

PubMed Link: 26976419

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association

Limburg, Paul J PJ; Harmsen, William S WS; Chen, Helen H HH; Gallinger, Steven S; Haile, Robert W RW; Baron, John A JA; Casey, Graham G; Woods, Michael O MO; Thibodeau, Stephen N SN; Lindor, Noralane M NM

Publication Date: 2011-06

Variant appearance in text: MSH2: 835C>G; L279V

PubMed Link: 21056691

Variant Present in the following documents:

• Main text

View BVdb publication page

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