Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: APC: V1822D

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: APC: V1822D; rs459552

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs459552

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: APC: V1822D; rs459552

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Decellularized extracellular matrix as scaffold for cancer organoid cultures of colorectal peritoneal metastases.

Journal Of Molecular Cell Biology

Varinelli, Luca L; Guaglio, Marcello M; Brich, Silvia S; Zanutto, Susanna S; Belfiore, Antonino A; Zanardi, Federica F; Iannelli, Fabio F; Oldani, Amanda A; Costa, Elisa E; Chighizola, Matteo M; Lorenc, Ewelina E; Minardi, Simone P SP; Fortuzzi, Stefano S; Filugelli, Martina M; Garzone, Giovanna G; Pisati, Federica F; Vecchi, Manuela M; Pruneri, Giancarlo G; Kusamura, Shigeki S; Baratti, Dario D; Cattaneo, Laura L; Parazzoli, Dario D; Podestà, Alessandro A; Milione, Massimo M; Deraco, Marcello M; Pierotti, Marco A MA; Gariboldi, Manuela M

Publication Date: 2022-12-02

Variant appearance in text: APC: V1822D

PubMed Link: 36460033

Variant Present in the following documents:

• mjac064_supplemental_file.pdf

View BVdb publication page

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: APC: V1822D

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

View BVdb publication page

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Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion.

Acta Neuropathologica

Messiaen, Julie J; Claeys, Annelies A; Shetty, Aniket A; Spans, Lien L; Derweduwe, Marleen M; Uyttebroeck, Anne A; Depreitere, Bart B; Vanden Bempt, Isabelle I; Sciot, Raf R; Ligon, Keith L KL; Jones, David T W DTW; Jacobs, Sandra A SA; De Smet, Frederik F

Publication Date: 2022-10

Variant appearance in text: APC: 5465T>A; V1822D; rs459552

PubMed Link: 35925403

Variant Present in the following documents:

• 401_2022_2473_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs459552

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Birthweight, BMI in adulthood and latent autoimmune diabetes in adults: a Mendelian randomisation study.

Diabetologia

Wei, Yuxia Y; Zhan, Yiqiang Y; Löfvenborg, Josefin E JE; Tuomi, Tiinamaija T; Carlsson, Sofia S

Publication Date: 2022-09

Variant appearance in text: rs459552

PubMed Link: 35606578

Variant Present in the following documents:

• 125_2022_5725_MOESM1_ESM.pdf

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: APC: 5465T>A; Val1822Asp; rs459552

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

View BVdb publication page

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Detection of disease-causing mutations in prostate cancer by NGS sequencing.

Cell Biology International

Mangolini, Alessandra A; Rocca, Christian C; Bassi, Cristian C; Ippolito, Carmelo C; Negrini, Massimo M; Dell'Atti, Lucio L; Lanza, Giovanni G; Gafà, Roberta R; Bianchi, Nicoletta N; Pinton, Paolo P; Aguiari, Gianluca G

Publication Date: 2022-07

Variant appearance in text: rs459552

PubMed Link: 35347810

Variant Present in the following documents:

• CBIN-46-1047-s001.xlsx, sheet 1

View BVdb publication page

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The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis.

Archives Of Endocrinology And Metabolism

Domingues, Guilherme Augusto Barcelos GAB; Kizys, Marina Malta Letro MML; Janovsky, Carolina Castro Porto Silva CCPS; de Barros Maciel, Rui Monteiro RM; Dias-da-Silva, Magnus Régios MR; Martins, João Roberto Maciel JRM; Camacho, Cleber Pinto CP; Cunha, Lucas Leite LL

Publication Date: 2022-03-08

Variant appearance in text: APC: 5465T>A; V1822D

PubMed Link: 35263052

Variant Present in the following documents:

• Main text
• 2359-4292-aem-66-01-0112.pdf

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: APC: 5465T>A; V1822D; rs459552

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid.

Hgg Advances

Blackburn, Patrick R PR; Carter, Jodi M JM; Oglesbee, Devin D; Westendorf, Jennifer J JJ; Neff, Brian A BA; Stichel, Damian D; Tsen, David W DW; Gavrilova, Ralitza H RH; Wesseling, Pieter P; von Deimling, Andreas A; Caulfield, Thomas R TR; Klee, Eric W EW; Pusch, Stefan S; Inwards, Carrie Y CY

Publication Date: 2020-10-22

Variant appearance in text: APC: 5465T>A; V1822D

PubMed Link: 35047830

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Turing miRNA into infinite coordination supermolecule: a general and enabling nanoengineering strategy for resurrecting nuclear acid therapeutics.

Journal Of Nanobiotechnology

Li, Liya L; He, Wangxiao W; You, Weiming W; Yan, Jin J; Liu, Wenjia W

Publication Date: 2022-01-04

Variant appearance in text: APC: V1822D

PubMed Link: 34983557

Variant Present in the following documents:

• Main text

View BVdb publication page

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Turing miRNA into infinite coordination supermolecule: a general and enabling nanoengineering strategy for resurrecting nuclear acid therapeutics.

Journal Of Nanobiotechnology

Li, Liya L; He, Wangxiao W; You, Weiming W; Yan, Jin J; Liu, Wenjia W

Publication Date: 2022-01-04

Variant appearance in text: APC: V1822D

PubMed Link: 34983557

Variant Present in the following documents:

• Main text

View BVdb publication page

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Intronic Variant of MUTYH Gene Exhibits A Strong Association with Early Onset of Breast Cancer Susceptibility in Indonesian Women Population.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Panigoro, Sonar Soni SS; Listiyaningsih, Erlin E; Nurlaila, Ika I; Mahesworo, Bharuno B; Hidayat, Alam Ahmad AA; Budiarto, Arif A; Sudigyo, Digdo D; Amirullah, Dian D; Simon, Simon S; Baurley, James J; Pardamean, Bens B

Publication Date: 2021-12-01

Variant appearance in text: rs459552

PubMed Link: 34967580

Variant Present in the following documents:

• Main text
• APJCP-22-3985.pdf

View BVdb publication page

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Transmission Jeopardy of Adenomatosis Polyposis Coli and Methylenetetrahydrofolate Reductase in Colorectal Cancer.

Journal Of The Renin-Angiotensin-Aldosterone System : Jraas

Mohd, Younis Y; Kumar, Parvinder P; Kuchi Bhotla, Haripriya H; Meyyazhagan, Arun A; Balasubramanian, Balamuralikrishnan B; Ramesh Kumar, Mithun Kumar MK; Pappusamy, Manikantan M; Alagamuthu, Karthick Kumar KK; Orlacchio, Antonio A; Keshavarao, Sasikala S; Sampathkumar, Palanisamy P; Arumugam, Vijaya Anand VA

Publication Date: 2021

Variant appearance in text: rs459552

PubMed Link: 34956401

Variant Present in the following documents:

• Main text
• JRAAS2021-7010706.pdf

View BVdb publication page

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Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology

Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS

Publication Date: 2021-11-17

Variant appearance in text: APC: 5465T>A; Val1822Asp; rs459552

PubMed Link: 34800919

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology

Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS

Publication Date: 2022-01

Variant appearance in text: APC: 5465T>A; Val1822Asp; rs459552

PubMed Link: 34800919

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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A systematic review of common genetic variation and biological pathways in autism spectrum disorder.

Bmc Neuroscience

Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C

Publication Date: 2021-10-09

Variant appearance in text: rs459552

PubMed Link: 34627165

Variant Present in the following documents:

• 12868_2021_662_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genotypic Characteristics of Hepatoblastoma as Detected by Next Generation Sequencing and Their Correlation With Clinical Efficacy.

Frontiers In Oncology

Hu, Huimin H; Zhang, Weiling W; Zhi, Tian T; Li, Jing J; Wen, Yuan Y; Li, Fan F; Mei, Yanyan Y; Huang, Dongsheng D

Publication Date: 2021

Variant appearance in text: APC: 5465T>A; V1822D

PubMed Link: 34426785

Variant Present in the following documents:

• Main text
• fonc-11-628531.pdf

View BVdb publication page

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The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.

Frontiers In Oncology

Klemke, Luisa L; Fehlau, Clara F CF; Winkler, Nadine N; Toboll, Felicia F; Singh, Shiv K SK; Moll, Ute M UM; Schulz-Heddergott, Ramona R

Publication Date: 2021

Variant appearance in text: APC: 5465T>A; Val1822Asp; rs459552

PubMed Link: 34178628

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: APC: 5465T>A; V1822D; rs459552

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: APC: V1822D; rs459552

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology

Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R

Publication Date: 2021-04-16

Variant appearance in text: APC: 5465T>A; Val1822Asp; rs459552

PubMed Link: 33863983

Variant Present in the following documents:

• 41698_2021_170_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: APC: V1822D; rs459552

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
• 42003_2021_1959_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: APC: Val1822Asp; rs459552

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations.

Genome Medicine

Nicholas, Thomas J TJ; Cormier, Michael J MJ; Huang, Xiaomeng X; Qiao, Yi Y; Marth, Gabor T GT; Quinlan, Aaron R AR

Publication Date: 2021-03-26

Variant appearance in text: APC: V1822D

PubMed Link: 33771218

Variant Present in the following documents:

• Main text
• 13073_2021_Article_854.pdf

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: APC: 5465T>A; V1822D; rs459552

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).

Journal Of Clinical Laboratory Analysis

Ghadamyari, Faranak F; Heidari, Mohammad Mehdi MM; Zeinali, Sirous S; Khatami, Mehri M; Merat, Shahin S; Bagherian, Hamideh H; Rejali, Leili L; Ghasemi, Farzaneh F

Publication Date: 2021-05

Variant appearance in text: APC: Val1822Asp; rs459552

PubMed Link: 33769591

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: APC: 5465T>A; Val1822Asp; rs459552

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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A bladder cancer patient-derived xenograft displays aggressive growth dynamics in vivo and in organoid culture.

Scientific Reports

Cai, Elise Y EY; Garcia, Jose J; Liu, Yuzhen Y; Vakar-Lopez, Funda F; Arora, Sonali S; Nguyen, Holly M HM; Lakely, Bryce B; Brown, Lisha L; Wong, Alicia A; Montgomery, Bruce B; Lee, John K JK; Corey, Eva E; Wright, Jonathan L JL; Hsieh, Andrew C AC; Lam, Hung-Ming HM

Publication Date: 2021-02-25

Variant appearance in text: APC: V1822D

PubMed Link: 33633154

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nontrivial Replication of Loci Detected by Multi-Trait Methods.

Frontiers In Genetics

Ning, Zheng Z; Tsepilov, Yakov A YA; Sharapov, Sodbo Zh SZ; Wang, Zhipeng Z; Grishenko, Alexander K AK; Feng, Xiao X; Shirali, Masoud M; Joshi, Peter K PK; Wilson, James F JF; Pawitan, Yudi Y; Haley, Chris S CS; Aulchenko, Yurii S YS; Shen, Xia X

Publication Date: 2021

Variant appearance in text: rs459552

PubMed Link: 33613642

Variant Present in the following documents:

• Presentation_1.pdf

View BVdb publication page

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Familial Colorectal Cancer and Genetic Susceptibility: Colorectal Risk Variants in First-Degree Relatives of Patients With Colorectal Cancer.

Clinical And Translational Gastroenterology

Gargallo-Puyuelo, Carla J CJ; Lanas, Ángel Á; Carrera-Lasfuentes, Patricia P; Ferrández, Ángel Á; Quintero, Enrique E; Carrillo, Marta M; Alonso-Abreu, Inmaculada I; García-González, María Asunción MA

Publication Date: 2021-02-03

Variant appearance in text: rs459552

PubMed Link: 33534415

Variant Present in the following documents:

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: APC: V1822D; rs459552

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: APC: 5465T>A; rs459552

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Associations of Adiposity, Circulating Protein Biomarkers, and Risk of Major Vascular Diseases.

Jama Cardiology

Pang, Yuanjie Y; Kartsonaki, Christiana C; Lv, Jun J; Fairhurst-Hunter, Zammy Z; Millwood, Iona Y IY; Yu, Canqing C; Guo, Yu Y; Chen, Yiping Y; Bian, Zheng Z; Yang, Ling L; Chen, Junshi J; Clarke, Robert R; Walters, Robin G RG; Holmes, Michael V MV; Li, Liming L; Chen, Zhengming Z

Publication Date: 2021-03-01

Variant appearance in text: rs459552

PubMed Link: 33263724

Variant Present in the following documents:

• jamacardiol-e206041-s001.pdf

View BVdb publication page

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Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Therapeutic Advances In Medical Oncology

Yang, Hong H; Liu, Zhimin Z; Wang, Yufang Y; Li, Jun J; Li, Ruiqian R; Wang, Qilin Q; Hu, Chen C; Jiang, Haiyang H; Wu, Hongyi H; Song, Lele L; Bai, Yu Y

Publication Date: 2020

Variant appearance in text: APC: 5465T>A; V1822D; rs459552

PubMed Link: 33240400

Variant Present in the following documents:

• Main text
• 10.1177_1758835920970845.pdf

View BVdb publication page

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A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports

García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-31

Variant appearance in text: APC: 5465T>A; Val1822Asp

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1
• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing.

Annals Of Laboratory Medicine

Lee, Heerah H; Kim, Hyun-Ki HK; Yang, Dong-Hoon DH; Hong, Yong Sang YS; Lee, Woochang W; Lim, Seok-Byung SB; Byeon, Jeong-Sik JS; Chun, Sail S; Min, Won-Ki WK

Publication Date: 2021-01

Variant appearance in text: APC: 5465T>A

PubMed Link: 32829589

Variant Present in the following documents:

• Main text

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Sporadic pediatric severe familial adenomatous polyposis: A case report.

Molecular And Clinical Oncology

Cerasuolo, Andrea A; Miele, Erasmo E; Russo, Marina M; Aversano, Antonietta A; Cammarota, Francesca F; Duraturo, Francesca F; Liccardo, Raffaella R; Izzo, Paola P; Rosa, Marina De M

Publication Date: 2020-09

Variant appearance in text: APC: 5465T>A; Val1822Asp; rs459552

PubMed Link: 32754334

Variant Present in the following documents:

• Main text

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High-Throughput Sequencing of Gastric Cancer Patients: Unravelling Genetic Predispositions Towards an Early-Onset Subtype.

Cancers

Machlowska, Julita J; Kapusta, Przemysław P; Baj, Jacek J; Morsink, Folkert H M FHM; Wołkow, Paweł P; Maciejewski, Ryszard R; Offerhaus, G Johan A GJA; Sitarz, Robert R

Publication Date: 2020-07-21

Variant appearance in text: rs459552

PubMed Link: 32708070

Variant Present in the following documents:

• Main text
• cancers-12-01981.pdf

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Plasma circulating tumor DNA assessment reveals KMT2D as a potential poor prognostic factor in extranodal NK/T-cell lymphoma.

Biomarker Research

Li, Qiong Q; Zhang, Wei W; Li, Jiali J; Xiong, Jingkang J; Liu, Jia J; Chen, Ting T; Wen, Qin Q; Zeng, Yunjing Y; Gao, Li L; Gao, Lei L; Zhang, Cheng C; Kong, Peiyan P; Peng, Xiangui X; Liu, Yao Y; Zhang, Xi X; Rao, Jun J

Publication Date: 2020

Variant appearance in text: APC: V1822D

PubMed Link: 32695399

Variant Present in the following documents:

• Main text
• 40364_2020_Article_205.pdf

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: APC: V1822D; rs459552

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs459552

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: APC: 5465T>A; Val1822Asp

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: APC: V1822D

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1

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Defining an embryonal rhabdomyosarcoma endotype.

Cold Spring Harbor Molecular Case Studies

Ricker, Cora A CA; Crawford, Kenneth K; Matlock, Kevin K; Lathara, Melvin M; Seguin, Bernard B; Rudzinski, Erin R ER; Berlow, Noah E NE; Keller, Charles C

Publication Date: 2020-04

Variant appearance in text: APC: 5465T>A; Val1822Asp

PubMed Link: 32238403

Variant Present in the following documents:

• Main text
• MCS005066Ric.pdf

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Targeting Epidermal Growth Factor Receptor (EGFR) in Pediatric Colorectal Cancer.

Cancers

De Pasquale, Maria Debora MD; Crocoli, Alessandro A; Caldaro, Tamara T; Rinelli, Martina M; Spinelli, Gian Paolo GP; Francalanci, Paola P; Cozza, Raffaele R; Inserra, Alessandro A; Miele, Evelina E

Publication Date: 2020-02-11

Variant appearance in text: APC: 5465T>A; Val1822Asp; rs459552

PubMed Link: 32053874

Variant Present in the following documents:

• Main text
• cancers-12-00414.pdf

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: APC: 5465T>A; V1822D; rs459552

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: APC: V1822D

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

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PMS2 germline mutation c.1577delA (p.Asp526Alafs*69)-induced Lynch syndrome-associated endometrial cancer: A case report.

Medicine

Cui, Man-Hua MH; Zhang, Xi-Wen XW; Yu, Tong T; Huang, Dong-Wei DW; Jia, Yan Y

Publication Date: 2019-12

Variant appearance in text: APC: 5465T>A; Val1822Asp; rs459552

PubMed Link: 31860975

Variant Present in the following documents:

• medi-98-e18279.pdf

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Clinicopathological and molecular characteristics of abdominal desmoid tumors in the Chinese population: A single-center report of 15 cases.

Oncology Letters

Wang, Jiongyuan J; Jia, Ning N; Lin, Qiaowei Q; Huang, Yuan Y; Li, Jinglei J; Jiang, Quan Q; Liu, Wenshuai W; Xu, Jing J; Hou, Yingyong Y; Liu, Ju J; Li, Ming M; Lu, Weiqi W; Zhou, Yuhong Y; Zhang, Yong Y; Tong, Hanxing H

Publication Date: 2019-12

Variant appearance in text: APC: 5465T>A

PubMed Link: 31807167

Variant Present in the following documents:

• Main text

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: APC: 5465T>A; Val1822Asp; rs459552

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: APC: V1822D; rs459552

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

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DNA sequencing of cytopathologically inconclusive EUS-FNA from solid pancreatic lesions suspicious for malignancy confirms EUS diagnosis.

Endoscopic Ultrasound

Plougmann, Julie Isabelle JI; Klausen, Pia P; Toxvaerd, Anders A; Abedi, Armita Armina AA; Kovacevic, Bojan B; Karstensen, John Gásdal JG; Poulsen, Tim Svenstrup TS; Kalaitzakis, Evangelos E; Høgdall, Estrid E; Vilmann, Peter P

Publication Date: 2020

Variant appearance in text: APC: V1822D

PubMed Link: 31552911

Variant Present in the following documents:

• Main text

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Genetic variants in the WNT signaling pathway are protectively associated with colorectal cancer in a Saudi population.

Saudi Journal Of Biological Sciences

Parine, Narasimha Reddy NR; Azzam, Nahla A NA; Shaik, Jilani J; Aljebreen, Abdulrahman M AM; Alharbi, Othman O; Almadi, Majid A MA; Alanazi, Mohammad M; Khan, Zahid Z

Publication Date: 2019-02

Variant appearance in text: rs459552

PubMed Link: 31485167

Variant Present in the following documents:

• Main text

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