Publications:

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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: 790C>T; Gln264Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer

Publication Date: 2022-10

Variant appearance in text: MSH2: Q264X

PubMed Link: 36260238

Variant Present in the following documents:

• 10689_2022_Article_312.pdf

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A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.

Scientific Reports

Warrick, Joshua I JI; Knowles, Margaret A MA; Hurst, Carolyn D CD; Shuman, Lauren L; Raman, Jay D JD; Walter, Vonn V; Putt, Jeffrey J; Dyrskjøt, Lars L; Groeneveld, Clarice C; Castro, Mauro A A MAA; Robertson, A Gordon AG; DeGraff, David J DJ

Publication Date: 2022-10-03

Variant appearance in text: MSH2: 790C>T; Q264*

PubMed Link: 36192513

Variant Present in the following documents:

• 41598_2022_20927_MOESM14_ESM.xlsx, sheet 1

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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: 790C>T; Gln264Ter

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Establishment and characterization of a new human colon cancer cell line, PUMC-CRC1.

Scientific Reports

Bian, Xiaocui X; Cao, Fang F; Wang, Xiaowan X; Hou, Yuhong Y; Zhao, Haitao H; Liu, Yuqin Y

Publication Date: 2021-06-23

Variant appearance in text: MSH2: Q264*

PubMed Link: 34162944

Variant Present in the following documents:

• Main text
• 41598_2021_Article_92491.pdf

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Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.

Gynecologic Oncology

Hampel, Heather H; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC; Zhao, Weiqiang W; Jones, Dan D; Yilmaz, Ahmet A; Chen, Wei W; Frankel, Wendy L WL; Suarez, Adrian A AA; Cosgrove, Casey C; Backes, Floor F; Copeland, Larry L; Fowler, Jeffrey J; O'Malley, David D; Salani, Ritu R; McElroy, Joseph P JP; Stanich, Peter P PP; Goodfellow, Paul P; Cohn, David E DE

Publication Date: 2021-01

Variant appearance in text: MSH2: 790C>T

PubMed Link: 33393477

Variant Present in the following documents:

• Main text

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Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

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

Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G

Publication Date: 2020-04

Variant appearance in text: MSH2: 790C>T; Gln264*

PubMed Link: 31844177

Variant Present in the following documents:

• 41436_2019_720_MOESM4_ESM.xlsx, sheet 2
• 41436_2019_720_MOESM4_ESM.xlsx, sheet 1

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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: 790C>T; Gln264X

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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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: 790C>T; Gln264Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

Gastroenterology

Haraldsdottir, Sigurdis S; Hampel, Heather H; Tomsic, Jerneja J; Frankel, Wendy L WL; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC

Publication Date: 2014-12

Variant appearance in text: MSH2: 790C>T

PubMed Link: 25194673

Variant Present in the following documents:

• Main text

View BVdb publication page

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