Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: PTEN: Y174C

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.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: PTEN: 521A>G; Tyr174Cys

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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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: PTEN: Y174C

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6
• Table3.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: PTEN: Y174C; rs864622341

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Integrated proteomic analysis of low-grade gliomas reveals contributions of 1p-19q co-deletion to oligodendroglioma.

Acta Neuropathologica Communications

Wong, Derek D; Lee, Tae Hoon TH; Lum, Amy A; Tao, Valerie Lan VL; Yip, Stephen S

Publication Date: 2022-05-07

Variant appearance in text: PTEN: Tyr174Cys

PubMed Link: 35526077

Variant Present in the following documents:

• 40478_2022_1372_MOESM18_ESM.xlsx, sheet 1

View BVdb publication page

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Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology

Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD

Publication Date: 2021-11-18

Variant appearance in text: PTEN: 521A>G; Tyr174Cys

PubMed Link: 34797250

Variant Present in the following documents:

• ct9-12-e00431-s005.xlsx, sheet 1

View BVdb publication page

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Polymicrogyria is Associated With Pathogenic Variants in PTEN.

Annals Of Neurology

Shao, Diane D DD; Achkar, Christelle M CM; Lai, Abbe A; Srivastava, Siddharth S; Doan, Ryan N RN; Rodan, Lance H LH; Chen, Allen Y AY; , ; Poduri, Annapurna A; Yang, Edward E; Walsh, Christopher A CA

Publication Date: 2020-12

Variant appearance in text: PTEN: 521A>G; Tyr174Cys

PubMed Link: 32959437

Variant Present in the following documents:

• Main text

View BVdb publication page

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A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer

Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ

Publication Date: 2020-02

Variant appearance in text: PTEN: 521A>G; Y174C

PubMed Link: 31857723

Variant Present in the following documents:

• 41416_2019_686_MOESM1_ESM.xlsx, sheet 14

View BVdb publication page

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Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia

Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ

Publication Date: 2020-05

Variant appearance in text: PTEN: Y174C

PubMed Link: 31844144

Variant Present in the following documents:

• 41375_2019_691_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: PTEN: 521A>G; Tyr174Cys

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology

Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K

Publication Date: 2019

Variant appearance in text: PTEN: 521A>G; Y174C

PubMed Link: 30886832

Variant Present in the following documents:

• Table_2.xls, sheet 2
• Table_2.xls, sheet 1

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: PTEN: 521A>G; Tyr174Cys

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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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports

Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A

Publication Date: 2018-11-21

Variant appearance in text: PTEN: 521A>G

PubMed Link: 30464253

Variant Present in the following documents:

• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.

Human Mutation

Mester, Jessica L JL; Ghosh, Rajarshi R; Pesaran, Tina T; Huether, Robert R; Karam, Rachid R; Hruska, Kathleen S KS; Costa, Helio A HA; Lachlan, Katherine K; Ngeow, Joanne J; Barnholtz-Sloan, Jill J; Sesock, Kaitlin K; Hernandez, Felicia F; Zhang, Liying L; Milko, Laura L; Plon, Sharon E SE; Hegde, Madhuri M; Eng, Charis C

Publication Date: 2018-11

Variant appearance in text: PTEN: 521A>G; Y174C

PubMed Link: 30311380

Variant Present in the following documents:

• Main text

View BVdb publication page

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: PTEN: Y174C

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 2
• pone.0196434.s001.xlsx, sheet 1

View BVdb publication page

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Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Oncotarget

Xiu, Joanne J; Piccioni, David D; Juarez, Tiffany T; Pingle, Sandeep C SC; Hu, Jethro J; Rudnick, Jeremy J; Fink, Karen K; Spetzler, David B DB; Maney, Todd T; Ghazalpour, Anatole A; Bender, Ryan R; Gatalica, Zoran Z; Reddy, Sandeep S; Sanai, Nader N; Idbaih, Ahmed A; Glantz, Michael M; Kesari, Santosh S

Publication Date: 2016-04-19

Variant appearance in text: PTEN: Y174C

PubMed Link: 26933808

Variant Present in the following documents:

• oncotarget-07-21556-s001.pdf

View BVdb publication page

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Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum.

The Journal Of Investigative Dermatology

Wang, Yun Y; Tan, Xiao Hui XH; DiGiovanna, John J JJ; Lee, Chyi-Chia Richard CC; Stern, Jere B JB; Raffeld, Mark M; Jaffe, Elaine S ES; Kraemer, Kenneth H KH

Publication Date: 2010-04

Variant appearance in text: PTEN: Tyr174Cys

PubMed Link: 19956187

Variant Present in the following documents:

• Main text

View BVdb publication page

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