Publications:

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Case Report: MAP2K1 K57N mutation is associated with primary resistance to anti-EGFR monoclonal antibodies in metastatic colorectal cancer.

Frontiers In Oncology

Mauri, Gianluca G; Patelli, Giorgio G; Gori, Viviana V; Lauricella, Calogero C; Mussolin, Benedetta B; Amatu, Alessio A; Bencardino, Katia K; Tosi, Federica F; Bonazzina, Erica E; Bonoldi, Emanuela E; Bardelli, Alberto A; Siena, Salvatore S; Sartore-Bianchi, Andrea A

Publication Date: 2022

Variant appearance in text: PDGFRA: T200S

PubMed Link: 36419886

Variant Present in the following documents:

• Main text
• fonc-12-1030232.pdf

View BVdb publication page

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Genetic Profiling of Colorectal Carcinomas of Patients with Primary Sclerosing Cholangitis and Inflammatory Bowel Disease.

Inflammatory Bowel Diseases

de Krijger, Manon M; Carvalho, Beatriz B; Rausch, Christian C; Bolijn, Anne S AS; Delis-van Diemen, Pien M PM; Tijssen, Marianne M; van Engeland, Manon M; Mostafavi, Nahid N; Bogie, Roel M M RMM; Dekker, Evelien E; Masclee, Ad A M AAM; Verheij, Joanne J; Meijer, Gerrit A GA; Ponsioen, Cyriel Y CY

Publication Date: 2022-09-01

Variant appearance in text: PDGFRA: Thr200Ser

PubMed Link: 35554535

Variant Present in the following documents:

• Main text
• izac087_suppl_supplementary_material.pdf
• izac087.pdf

View BVdb publication page

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Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

International Journal Of Molecular Medicine

Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R

Publication Date: 2022-05

Variant appearance in text: PDGFRA: 599C>G; Thr200Ser

PubMed Link: 35244186

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics

Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C

Publication Date: 2018-07-03

Variant appearance in text: PDGFRA: 599C>G; Thr200Ser; rs149951350

PubMed Link: 29970176

Variant Present in the following documents:

• 40246_2018_167_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Sequential immunotherapy in a patient with primary refractory Hodgkin lymphoma and novel mutations.

Oncotarget

Greil, Richard R; Pleyer, Lisa L; Jansko, Bettina B; Feierabend, Carmen C; Rettenbacher, Lukas L; Stiefel, Olga O; Rass, Christoph C; Morre, Patrick P; Neureiter, Daniel D; Greil-Ressler, Sigrun S

Publication Date: 2018-04-17

Variant appearance in text: PDGFRA: T200S

PubMed Link: 29755699

Variant Present in the following documents:

• Main text
• oncotarget-09-20928.pdf

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: PDGFRA: 599C>G; Thr200Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: PDGFRA: 599C>G; T200S; rs149951350

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PDGFRA: 599C>G; T200S

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research

Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR

Publication Date: 2016-06-20

Variant appearance in text: PDGFRA: 599C>G; T200S; rs149951350

PubMed Link: 27060149

Variant Present in the following documents:

• supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2

View BVdb publication page

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ERBB activation modulates sensitivity to MEK1/2 inhibition in a subset of driver-negative melanoma.

Oncotarget

Hutchinson, Katherine E KE; Johnson, Douglas B DB; Johnson, Adam S AS; Sanchez, Violeta V; Kuba, Maria M; Lu, Pengcheng P; Chen, Xi X; Kelley, Mark C MC; Wang, Qingguo Q; Zhao, Zhongming Z; Kris, Mark M; Berger, Michael F MF; Sosman, Jeffrey A JA; Pao, William W

Publication Date: 2015-09-08

Variant appearance in text: PDGFRA: T200S

PubMed Link: 26084293

Variant Present in the following documents:

• oncotarget-06-22348-s003.xlsx, sheet 1

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: PDGFRA: T200S; rs149951350

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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