{ "bcoid": "GLY_000722", "title": "Human Literature Mutations Citations", "description": "The Human Literature Mutations Citations contains details of the publication present in the dataset Human ...", "filename": "human_protein_citations_mutation_literature.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Protein", "tags": "Literature Mutation Citations", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "P15056-1...", "The BRAF V60..." ], [ "P15056-1...", "Functional a..." ] ], "headers": [ "uniprotkb_ca...", "title..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "title" }, { "type": "string", "label": "journal_name" }, { "type": "string", "label": "publication_date" }, { "type": "string", "label": "authors" }, { "type": "string", "label": "xref_key" }, { "type": "string", "label": "xref_id" }, { "type": "string", "label": "src_xref_key" }, { "type": "string", "label": "src_xref_id" } ], [ "P15056-1", "The BRAF V600E mutation in papillary thyroid cancer with positive or suspected pre-surgical cytological finding is not associated with advanced stages or worse prognosis.", "Endocrine", "2014 Apr", "Barbaro D, Incensati RM, Materazzi G, Boni G, Grosso M, Panicucci E, Lapi P, Pasquini C, Miccoli P", "protein_xref_pubmed", "23925579", "protein_xref_dbsnp", "673" ], [ "P15056-1", "Functional and symptom impact of trametinib versus chemotherapy in BRAF V600E advanced or metastatic melanoma: quality-of-life analyses of the METRIC study.", "Annals of oncology : official journal of the European Society for Medical Oncology", "2014 Mar", "Schadendorf D, Amonkar MM, Milhem M, Grotzinger K, Demidov LV, Rutkowski P, Garbe C, Dummer R, Hassel JC, Wolter P, Mohr P, Trefzer U, Lefeuvre-Plesse C, Rutten A, Steven N, Ullenhag G, Sherman L, Wu FS, Patel K, Casey M, Robert C", "protein_xref_pubmed", "24504441", "protein_xref_dbsnp", "673" ], [ "P15056-1", "Novel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors.", "Genes, chromosomes & cancer", "2008 Oct", "Agaram NP, Wong GC, Guo T, Maki RG, Singer S, Dematteo RP, Besmer P, Antonescu CR", "protein_xref_pubmed", "18615679", "protein_xref_dbsnp", "673" ], [ "P00533-1", "[Cetuximab in combination with icotinib overcomes the acquired resistance caused by EGFR T790M mutation in non-small cell lung cancer].", "Zhonghua zhong liu za zhi [Chinese journal of oncology]", "2014 Sep", "Wang M, Zhang L, Zhao X, Liu J, Chen Y, Wang C", "protein_xref_pubmed", "25564053", "protein_xref_dbsnp", "1956" ], [ "P15056-1", "Clinicopathologic implications of the BRAF(V600E) mutation in papillary thyroid cancer: a subgroup analysis of 3130 cases in a single center.", "Thyroid : official journal of the American Thyroid Association", "2013 Nov", "Lim JY, Hong SW, Lee YS, Kim BW, Park CS, Chang HS, Cho JY", "protein_xref_pubmed", "23496275", "protein_xref_dbsnp", "673" ], [ "Q16832-1", "Functional analysis of Discoidin domain receptor 2 mutation and expression in squamous cell lung cancer.", "Lung cancer (Amsterdam, Netherlands)", "2017 Aug", "Kobayashi-Watanabe N, Sato A, Watanabe T, Abe T, Nakashima C, Sueoka E, Kimura S, Sueoka-Aragane N", "protein_xref_pubmed", "28676216", "protein_xref_dbsnp", "4921" ], [ "O60674-1", "Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a minimal residual disease marker in patients with myelofibrosis and myeloid metaplasia after allogeneic stem cell transplantation.", "Transplantation", "2007 Jun 15", "Steckel NK, Koldehoff M, Ditschkowski M, Beelen DW, Elmaagacli AH", "protein_xref_pubmed", "17565328", "protein_xref_dbsnp", "3717" ], [ "P15056-1", "BRAF p.Val600Glu (V600E) Testing for Assessment of Treatment Options in Metastatic Colorectal Cancer.", "PLoS currents", "2010 Oct 19", "Lea A, Allingham-Hawkins D, Levine S", "protein_xref_pubmed", "20972475", "protein_xref_dbsnp", "673" ], [ "P15056-1", "Combined BRAF(V600E) analysis and (99m)Tc-MIBI scintigraphy can be a useful diagnostic tool in differentiated thyroid cancer patients with incomplete bio-chemical response to first radioiodine therapy (RAIT): a pilot investigation.", "Journal of endocrinological investigation", "2018 Nov", "Campenni A, Ruggeri RM, Siracusa M, Pignata SA, Di Mauro F, Vento A, Trimarchi F, Baldari S", "protein_xref_pubmed", "29549631", "protein_xref_dbsnp", "673" ], [ "P15056-1", "Targeted inhibition of metastatic melanoma through interference with Pin1-FOXM1 signaling.", "Oncogene", "2016 Apr 28", "Kruiswijk F, Hasenfuss SC, Sivapatham R, Baar MP, Putavet D, Naipal KA, van den Broek NJ, Kruit W, van der Spek PJ, van Gent DC, Brenkman AB, Campisi J, Burgering BM, Hoeijmakers JH, de Keizer PL", "protein_xref_pubmed", "26279295", "protein_xref_dbsnp", "673" ], [ "P07949-1", "Functional RET G691S polymorphism in cutaneous malignant melanoma.", "Oncogene", "2009 Aug 27", "Narita N, Tanemura A, Murali R, Scolyer RA, Huang S, Arigami T, Yanagita S, Chong KK, Thompson JF, Morton DL, Hoon DS", "protein_xref_pubmed", "19561646", "protein_xref_dbsnp", "5979" ], [ "Q06187-1", "Targeting the C481S Ibrutinib-Resistance Mutation in Bruton's Tyrosine Kinase Using PROTAC-Mediated Degradation.", "Biochemistry", "2018 Jul 3", "Buhimschi AD, Armstrong HA, Toure M, Jaime-Figueroa S, Chen TL, Lehman AM, Woyach JA, Johnson AJ, Byrd JC, Crews CM", "protein_xref_pubmed", "29851337", "protein_xref_dbsnp", "695" ], [ "P00533-1", "The close correlation between 8-hydroxy-2'-deoxyguanosine and epidermal growth factor receptor activating mutation in non-small cell lung cancer.", "Human pathology", "2010 Jul", "Kawahara A, Azuma K, Hattori S, Nakashima K, Basaki Y, Akiba J, Takamori S, Aizawa H, Yanagawa T, Izumi H, Kohno K, Kono S, Kage M, Kuwano M, Ono M", "protein_xref_pubmed", "20236686", "protein_xref_dbsnp", "1956" ], [ "O60674-1", "[Evaluation of V617F mutation of JAK2 in negative chromosome Philadelphia chronic myeloproliferative disorders].", "Medicina clinica", "2006 Oct 28", "Remacha AF, Puget G, Nomdedeu JF, Estivill C, Sarda MP, Canals C", "protein_xref_pubmed", "17145024", "protein_xref_dbsnp", "3717" ], [ "Q16665-1", "Lack of relevance of HIF-1alpha polymorphisms in breast cancer in a Portuguese population.", "Anticancer research", "2013 Jun", "Ribeiro AL, Gaspar JF, Pereira T, Ribeiro V", "protein_xref_pubmed", "23749907", "protein_xref_dbsnp", "3091" ], [ "P04798-1", "CYP1A1 Ile462Val polymorphism and cervical cancer: evidence from a meta-analysis.", "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "2012 Dec", "Yang S, Jia C, Zhu H, Han S", "protein_xref_pubmed", "22948778", "protein_xref_dbsnp", "1543" ], [ "O60674-1", "A case of JAK2 V617F-positive myelodysplastic/myeloproliferative neoplasm with unusual morphology, resembling acute promyelocytic leukemia-like disorder with a chronic course.", "Leukemia & lymphoma", "2011 Oct", "Forghieri F, Morselli M, Potenza L, Maccaferri M, Pedrazzi L, Coluccio V, Barozzi P, Vallerini D, Riva G, Zanetti E, Quarelli C, Bonacorsi G, Artusi T, Zaldini P, Zucchini P, Marasca R, Narni F, Falini B, Torelli G, Luppi M", "protein_xref_pubmed", "21635206", "protein_xref_dbsnp", "3717" ], [ "P40692-1", "The MLH1 2101C>A (Q701K) variant increases the risk of gastric cancer in Chinese males.", "BMC gastroenterology", "2011 Dec 3", "Zhi W, Xue B, Wang L, Xiao N, He Q, Wang Y, Fan Y", "protein_xref_pubmed", "22136435", "protein_xref_dbsnp", "4292" ], [ "P09874-1", "Novel mutations of the PARP-1 gene associated with colorectal cancer in the Saudi population.", "Asian Pacific journal of cancer prevention : APJCP", "2014", "Alshammari AH, Shalaby MA, Alanazi MS, Saeed HM", "protein_xref_pubmed", "24870775", "protein_xref_dbsnp", "142" ], [ "P40238-1", "Molecular mechanisms associated with leukemic transformation of MPL-mutant myeloproliferative neoplasms.", "Haematologica", "2010 Dec", "Beer PA, Ortmann CA, Stegelmann F, Guglielmelli P, Reilly JT, Larsen TS, Hasselbalch HC, Vannucchi AM, Moller P, Dohner K, Green AR", "protein_xref_pubmed", "20823136", "protein_xref_dbsnp", "4352" ], [ "O60674-1", "Familial polycythemia vera with non-germline JAK2(V617F) mutation sparing the abnormal and clonal granulopoiesis.", "Leukemia", "2007 Dec", "Hussein K, Bock O, Ballmaier M, Gohring G, Steinemann D, Lehmann U, Kemper J, Buhr T, Kreipe H", "protein_xref_pubmed", "17625610", "protein_xref_dbsnp", "3717" ], [ "P09874-1", "Glioma risk associates with polymorphisms of DNA repair genes, XRCC1 and PARP1.", "British journal of neurosurgery", "2010 Oct", "Yosunkaya E, Kucukyuruk B, Onaran I, Gurel CB, Uzan M, Kanigur-Sultuybek G", "protein_xref_pubmed", "20868244", "protein_xref_dbsnp", "142" ], [ "P04798-1", "CYP1A1 Ile462Val polymorphism and the risk of non-small cell lung cancer in a Chinese population.", "Tumori", "2014 Sep-Oct", "Lin J, He B, Cao L, Zhang Z, Liu H, Rao J, Liu Y, Shao S, Wang G, Zhang X", "protein_xref_pubmed", "25343551", "protein_xref_dbsnp", "1543" ], [ "O60934-1", "Single nucleotide polymorphisms in DNA repair genes and basal cell carcinoma of skin.", "Carcinogenesis", "2006 Aug", "Thirumaran RK, Bermejo JL, Rudnai P, Gurzau E, Koppova K, Goessler W, Vahter M, Leonardi GS, Clemens F, Fletcher T, Hemminki K, Kumar R", "protein_xref_pubmed", "16501254", "protein_xref_dbsnp", "4683" ], [ "P15056-1", "Tumor-derived fibronectin is involved in melanoma cell invasion and regulated by V600E B-Raf signaling pathway.", "The Journal of investigative dermatology", "2007 Feb", "Gaggioli C, Robert G, Bertolotto C, Bailet O, Abbe P, Spadafora A, Bahadoran P, Ortonne JP, Baron V, Ballotti R, Tartare-Deckert S", "protein_xref_pubmed", "16960555", "protein_xref_dbsnp", "673" ], [ "O15527-1", "Ser326Cys polymorphism in DNA repair genes hOGG1 in breast cancer women.", "Polish journal of pathology : official journal of the Polish Society of Pathologists", "2008", "Romanowicz-Makowska H, Smolarz B, Makowski M, Polac I, Pertynski T", "protein_xref_pubmed", "19391486", "protein_xref_dbsnp", "4968" ], [ "P09211-1", "XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma.", "Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine", "2016 Mar", "Gomez GV, de Oliveira C, Rinck-Junior JA, de Moraes AM, Lourenco GJ, Lima CS", "protein_xref_pubmed", "26427666", "protein_xref_dbsnp", "2950" ], [ "P15056-1", "Role of BRAF-V600E in the serrated pathway of colorectal tumourigenesis.", "The Journal of pathology", "2007 Jun", "Minoo P, Moyer MP, Jass JR", "protein_xref_pubmed", "17427169", "protein_xref_dbsnp", "673" ], [ "P07949-1", "Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene.", "European journal of endocrinology", "2008 Dec", "Peppa M, Boutati E, Kamakari S, Pikounis V, Peros G, Panayiotides IG, Economopoulos T, Raptis SA, Hadjidakis D", "protein_xref_pubmed", "18805915", "protein_xref_dbsnp", "5979" ], [ "P00533-1", "Tyrosine kinase domain mutations of EGFR gene in head and neck squamous cell carcinoma.", "OncoTargets and therapy", "2017", "Vatte C, Al Amri AM, Cyrus C, Chathoth S, Acharya S, Hashim TM, Al Ali Z, Alshreadah ST, Alsayyah A, Al-Ali AK", "protein_xref_pubmed", "28352186", "protein_xref_dbsnp", "1956" ], [ "O60674-1", "The possible association of monoclonal gammopathy of undetermined significance and JAK2-V617F positive chronic myeloproliferative neoplasm.", "Acta clinica Croatica", "2014 Jun", "Valkovic T", "protein_xref_pubmed", "25163245", "protein_xref_dbsnp", "3717" ], [ "P00519-1", "A non-ATP-competitive inhibitor of BCR-ABL overrides imatinib resistance.", "Proceedings of the National Academy of Sciences of the United States of America", "2005 Feb 8", "Gumireddy K, Baker SJ, Cosenza SC, John P, Kang AD, Robell KA, Reddy MV, Reddy EP", "protein_xref_pubmed", "15677719", "protein_xref_dbsnp", "25" ], [ "P15056-1", "Combination of microsatellite instability and BRAF mutation status for subtyping colorectal cancer.", "British journal of cancer", "2015 Jun 9", "Seppala TT, Bohm JP, Friman M, Lahtinen L, Vayrynen VM, Liipo TK, Ristimaki AP, Kairaluoma MV, Kellokumpu IH, Kuopio TH, Mecklin JP", "protein_xref_pubmed", "25973534", "protein_xref_dbsnp", "673" ], [ "P17931-1", "Apoptosis gene polymorphisms and risk of prostate cancer: a hospital-based study of German patients treated with brachytherapy.", "Urologic oncology", "2013 Jan", "Meyer A, Coinac I, Bogdanova N, Dubrowinskaja N, Turmanov N, Haubold S, Schurmann P, Imkamp F, von Klot C, Merseburger AS, Machtens S, Bremer M, Hillemanns P, Kuczyk MA, Karstens JH, Serth J, Dork T", "protein_xref_pubmed", "21396839", "protein_xref_dbsnp", "3958" ], [ "P15056-1", "Oncogenic BRAF(V600E) inhibits BIM expression to promote melanoma cell survival.", "Pigment cell & melanoma research", "2008 Oct", "Cartlidge RA, Thomas GR, Cagnol S, Jong KA, Molton SA, Finch AJ, McMahon M", "protein_xref_pubmed", "18715233", "protein_xref_dbsnp", "673" ], [ "O60674-1", "B-cell acute lymphoblastic leukemia in JAK2 V617F-positive polycythemia vera.", "Blood", "2018 Feb 22", "Jaitly V, Wang W", "protein_xref_pubmed", "29472375", "protein_xref_dbsnp", "3717" ], [ "P00519-1", "HS-438, a new inhibitor of imatinib-resistant BCR-ABL T315I mutation in chronic myeloid leukemia.", "Cancer letters", "2014 Jun 28", "Yun SM, Jung KH, Kim SJ, Fang Z, Son MK, Yan HH, Lee H, Kim J, Shin S, Hong S, Hong SS", "protein_xref_pubmed", "24657654", "protein_xref_dbsnp", "25" ], [ "P16144-1", "alpha6beta4 Integrin Genetic Variations (A380T and R1281W) and Breast Cancer Risk in an Argentinian Population.", "International journal of molecular sciences", "2016 Oct 18", "Acosta KB, Lorenzini Campos MN, Etcheverry SB, Zapata PD", "protein_xref_pubmed", "27763564", "protein_xref_dbsnp", "3691" ], [ "P00533-1", "FDA Benefit-Risk Assessment of Osimertinib for the Treatment of Metastatic Non-Small Cell Lung Cancer Harboring Epidermal Growth Factor Receptor T790M Mutation.", "The oncologist", "2018 Mar", "Odogwu L, Mathieu L, Goldberg KB, Blumenthal GM, Larkins E, Fiero MH, Rodriguez L, Bijwaard K, Lee EY, Philip R, Fan I, Donoghue M, Keegan P, McKee A, Pazdur R", "protein_xref_pubmed", "29242281", "protein_xref_dbsnp", "1956" ], [ "Q92826-1", "Prevalence of the HOXB13 G84E germline mutation in British men and correlation with prostate cancer risk, tumour characteristics and clinical outcomes.", "Annals of oncology : official journal of the European Society for Medical Oncology", "2015 Apr", "Kote-Jarai Z, Mikropoulos C, Leongamornlert DA, Dadaev T, Tymrakiewicz M, Saunders EJ, Jones M, Jugurnauth-Little S, Govindasami K, Guy M, Hamdy FC, Donovan JL, Neal DE, Lane JA, Dearnaley D, Wilkinson RA, Sawyer EJ, Morgan A, Antoniou AC, Eeles RA", "protein_xref_pubmed", "25595936", "protein_xref_dbsnp", "10481" ], [ "P08581-1", "MET receptor variant R970C favors calpain-dependent generation of a fragment promoting epithelial cell scattering.", "Oncotarget", "2017 Feb 14", "Montagne R, Baranzelli A, Muharram G, Catherine L, Lesaffre M, Vinchent A, Kherrouche Z, Werkmeister E, Cortot AB, Tulasne D", "protein_xref_pubmed", "28061464", "protein_xref_dbsnp", "4233" ], [ "P00533-1", "Bronchial and peripheral murine lung carcinomas induced by T790M-L858R mutant EGFR respond to HKI-272 and rapamycin combination therapy.", "Cancer cell", "2007 Jul", "Li D, Shimamura T, Ji H, Chen L, Haringsma HJ, McNamara K, Liang MC, Perera SA, Zaghlul S, Borgman CL, Kubo S, Takahashi M, Sun Y, Chirieac LR, Padera RF, Lindeman NI, Janne PA, Thomas RK, Meyerson ML, Eck MJ, Engelman JA, Shapiro GI, Wong KK", "protein_xref_pubmed", "17613438", "protein_xref_dbsnp", "1956" ], [ "P18074-1", "XPD Lys751Gln polymorphism in the etiology and outcome of childhood acute myeloid leukemia: a Children's Oncology Group report.", "Blood", "2006 Jan 1", "Mehta PA, Alonzo TA, Gerbing RB, Elliott JS, Wilke TA, Kennedy RJ, Ross JA, Perentesis JP, Lange BJ, Davies SM", "protein_xref_pubmed", "16150943", "protein_xref_dbsnp", "2068" ], [ "P15056-1", "Immunohistochemistry with the anti-BRAF V600E (VE1) antibody: impact of pre-analytical conditions and concordance with DNA sequencing in colorectal and papillary thyroid carcinoma.", "Pathology", "2014 Oct", "Dvorak K, Aggeler B, Palting J, McKelvie P, Ruszkiewicz A, Waring P", "protein_xref_pubmed", "25014730", "protein_xref_dbsnp", "673" ], [ "P15056-1", "Absence of BRAF V600E mutation in hematologic malignancies excluding hairy-cell leukemia.", "Leukemia & lymphoma", "2012 Dec", "Ping N, Wang Q, Wang Q, Dong S, Wu L, Xue Y, Ruan C, Wu D, Chen S", "protein_xref_pubmed", "22639828", "protein_xref_dbsnp", "673" ], [ "P07949-1", "Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyroid carcinoma.", "Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme", "2012 May", "Elston MS, Meyer-Rochow GY, Holdaway I, Conaglen JV", "protein_xref_pubmed", "22274720", "protein_xref_dbsnp", "5979" ], [ "O14965-1", "Inconsistent association between the STK15 F31I genetic polymorphism and breast cancer risk.", "Journal of the National Cancer Institute", "2006 Jul 19", "Fletcher O, Johnson N, Palles C, dos Santos Silva I, McCormack V, Whittaker J, Ashworth A, Peto J", "protein_xref_pubmed", "16849685", "protein_xref_dbsnp", "6790" ], [ "P07949-1", "The G691S RET polymorphism increases glial cell line-derived neurotrophic factor-induced pancreatic cancer cell invasion by amplifying mitogen-activated protein kinase signaling.", "Cancer research", "2005 Dec 15", "Sawai H, Okada Y, Kazanjian K, Kim J, Hasan S, Hines OJ, Reber HA, Hoon DS, Eibl G", "protein_xref_pubmed", "16357163", "protein_xref_dbsnp", "5979" ], [ "P22309-1", "Chemotherapy-induced unconjugated hyperbilirubinemia caused by a mutation of the bilirubin uridine-5'-diphosphate-glucuronosyltransferase gene.", "Journal of pediatric hematology/oncology", "2001 Jan", "Maruo Y, Sato H, Bamba N, Iwai M, Sawa H, Fujino H, Taga T, Ota S, Shimada M", "protein_xref_pubmed", "11196269", "protein_xref_dbsnp", "54658" ], [ "P21964-1", "Contribution of catechol-O-methyltransferase Val158Met polymorphism to endometrial cancer risk in postmenopausal women: a meta-analysis.", "Genetics and molecular research : GMR", "2013 Dec 10", "Lin G, Zhao J, Wu J, Andreevich O R, Zhang WH, Zhang Y, Yu L", "protein_xref_pubmed", "24390993", "protein_xref_dbsnp", "1312" ], [ "P15056-1", "The BRAF V600E mutation in hairy cell leukemia and other mature B-cell neoplasms.", "Blood", "2012 Jan 5", "Arcaini L, Zibellini S, Boveri E, Riboni R, Rattotti S, Varettoni M, Guerrera ML, Lucioni M, Tenore A, Merli M, Rizzi S, Morello L, Cavalloni C, Da Via MC, Paulli M, Cazzola M", "protein_xref_pubmed", "22072557", "protein_xref_dbsnp", "673" ], [ "P15056-1", "BRAF(V600E) and NRAS(Q61L/Q61R) mutation analysis in metastatic melanoma using immunohistochemistry: a study of 754 cases highlighting potential pitfalls and guidelines for interpretation and reporting.", "Histopathology", "2016 Oct", "Kakavand H, Walker E, Lum T, Wilmott JS, Selinger CI, Smith E, Saw RP, Yu B, Cooper WA, Long GV, O'Toole SA, Scolyer RA", "protein_xref_pubmed", "27151331", "protein_xref_dbsnp", "673" ], [ "O14746-1", "Telomerase variant A279T induces telomere dysfunction and inhibits non-canonical telomerase activity in esophageal carcinomas.", "PloS one", "2014", "Zhang Y, Calado R, Rao M, Hong JA, Meeker AK, Dumitriu B, Atay S, McCormick PJ, Garfield SH, Wangsa D, Padilla-Nash HM, Burkett S, Zhang M, Kunst TF, Peterson NR, Xi S, Inchauste S, Altorki NK, Casson AG, Beer DG, Harris CC, Ried T, Young NS, Schrump DS", "protein_xref_pubmed", "24983628", "protein_xref_dbsnp", "7015" ], [ "P00533-1", "Epidermal growth factor receptor (EGFR) mutations in lung cancer: preclinical and clinical data.", "Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas", "2014 Nov", "Jorge SE, Kobayashi SS, Costa DB", "protein_xref_pubmed", "25296354", "protein_xref_dbsnp", "1956" ], [ "Q03468-1", "Meta-analysis reveals no significant association between ERCC6 polymorphisms and bladder cancer risk.", "The International journal of biological markers", "2017 Mar 2", "Hong Z, Wu J, Li Q, Zhang S, Shi Z", "protein_xref_pubmed", "27791261", "protein_xref_dbsnp", "2074" ], [ "O60674-1", "JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia.", "The Korean journal of laboratory medicine", "2010 Oct", "Kim HJ, Jang JH, Yoo EH, Kim HJ, Ki CS, Kim JW, Kim SH", "protein_xref_pubmed", "20890078", "protein_xref_dbsnp", "3717" ], [ "P00533-1", "Mutations within the tyrosine kinase domain of EGFR gene specifically occur in lung adenocarcinoma patients with a low exposure of tobacco smoking.", "British journal of cancer", "2006 Mar 27", "Sugio K, Uramoto H, Ono K, Oyama T, Hanagiri T, Sugaya M, Ichiki Y, So T, Nakata S, Morita M, Yasumoto K", "protein_xref_pubmed", "16552419", "protein_xref_dbsnp", "1956" ], [ "O95185-1", "Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles.", "World journal of gastroenterology", "2014 Jan 7", "Kury S, Garrec C, Airaud F, Breheret F, Guibert V, Frenard C, Jiao S, Bonneau D, Berthet P, Bossard C, Ingster O, Cauchin E, Bezieau S", "protein_xref_pubmed", "24415873", "protein_xref_dbsnp", "8633" ], [ "Q14520-1", "RE: HABP2 G534E Mutation in Familial Nonmedullary Thyroid Cancer.", "Journal of the National Cancer Institute", "2016 Aug", "Simeone P, Alberti S", "protein_xref_pubmed", "27418631", "protein_xref_dbsnp", "3026" ], [ "P27695-1", "APE1 polymorphisms are associated with colorectal cancer susceptibility in Chinese Hans.", "World journal of gastroenterology", "2014 Jul 14", "Zhang SH, Wang LA, Li Z, Peng Y, Cun YP, Dai N, Cheng Y, Xiao H, Xiong YL, Wang D", "protein_xref_pubmed", "25024628", "protein_xref_dbsnp", "328" ], [ "P16234-1", "[FIP1L1-PDGFRA positive chronic eosinophilic leukemia with imatinib-resistant T674I mutant of PDGFRA gene: a case report and literature review].", "Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi", "2013 Feb", "Qu SQ, Wang Y, Sun XJ", "protein_xref_pubmed", "23611226", "protein_xref_dbsnp", "5156" ], [ "Q30201-1", "No evidence of increased risk of colorectal cancer in individuals heterozygous for the Cys282Tyr haemochromatosis mutation.", "Journal of gastroenterology and hepatology", "1999 Dec", "Macdonald GA, Tarish J, Whitehall VJ, McCann SJ, Mellick GD, Buttenshaw RL, Johnson AG, Young J, Leggett BA", "protein_xref_pubmed", "10634155", "protein_xref_dbsnp", "3077" ], [ "Q05823-1", "The effect of TP53 codon 72 and RNASEL codon 462 polymorphisms on the development of cervical cancer in Argentine women.", "Cancer genetics", "2011 May", "Barbisan G, Contreras A, Perez LO, Difranza L, Golijow CD", "protein_xref_pubmed", "21665181", "protein_xref_dbsnp", "6041" ], [ "P04637-1", "Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.", "BMC medical genetics", "2014 May 15", "Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, Rossi BM, Achatz MI, Carraro DM", "protein_xref_pubmed", "24884479", "protein_xref_dbsnp", "7157" ], [ "P15056-1", "BRAF V600E and TERT Promoter Mutations in Papillary Thyroid Carcinoma in Chinese Patients.", "PloS one", "2016", "Sun J, Zhang J, Lu J, Gao J, Ren X, Teng L, Duan H, Lin Y, Li X, Zhang B, Liang Z", "protein_xref_pubmed", "27064992", "protein_xref_dbsnp", "673" ], [ "P15056-1", "Extraordinary clinical benefit to sequential treatment with targeted therapy and immunotherapy of a BRAF V600E and PD-L1 positive metastatic lung adenocarcinoma.", "Experimental hematology & oncology", "2017", "Li SD, Martial A, Schrock AB, Liu JJ", "protein_xref_pubmed", "29142786", "protein_xref_dbsnp", "673" ], [ "P48735-1", "IDH1 Mutation Is an Independent Inferior Prognostic Indicator for Patients with Myelodysplastic Syndromes.", "Acta haematologica", "2017", "Wang N, Wang F, Shan N, Sui X, Xu H", "protein_xref_pubmed", "28873367", "protein_xref_dbsnp", "3418" ], [ "O60674-1", "JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia.", "Leukemia", "2007 Feb", "Zecca M, Bergamaschi G, Kratz C, Bergstrasser E, Danesino C, De Filippi P, Hasle H, Lisini D, Locatelli F, Pession A, Sainati L, Stary J, Trebo M, van den Heuvel-Eibrink M, Wojcik D, Niemeyer CM", "protein_xref_pubmed", "17151700", "protein_xref_dbsnp", "3717" ], [ "P05362-1", "High risk of cutaneous melanoma amongst carriers of the intercellular adhesion molecule-1 R241 allele.", "Melanoma research", "2006 Feb", "Vinceti M, Pellacani G, Casali B, Malagoli C, Nicoli D, Farnetti E, Bassissi S, Bergomi M, Seidenari S", "protein_xref_pubmed", "16432463", "protein_xref_dbsnp", "3383" ], [ "P38398-1", "Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore.", "Human mutation", "2003 Aug", "Lee AS, Ho GH, Oh PC, Balram C, Ooi LL, Lim DT, Wong CY, Hong GS", "protein_xref_pubmed", "12872263", "protein_xref_dbsnp", "672" ], [ "P18074-1", "Glutathione S-transferase P1 and DNA polymorphisms influence response to chemotherapy and prognosis of bone tumors.", "Asian Pacific journal of cancer prevention : APJCP", "2012", "Yang LM, Li XH, Bao CF", "protein_xref_pubmed", "23317281", "protein_xref_dbsnp", "2068" ], [ "Q01726-1", "Phenotypic and histologic characteristics of cutaneous melanoma in patients with melanocortin-1 receptor polymorphisms.", "Actas dermo-sifiliograficas", "2012 Jan", "Aviles JA, Lazaro P, Fernandez LP, Benitez J, Ibarrola-Villava M, Ribas G", "protein_xref_pubmed", "22464597", "protein_xref_dbsnp", "4157" ], [ "P00533-1", "Design, synthesis, and biological evaluation of novel conformationally constrained inhibitors targeting epidermal growth factor receptor threonine(7)(9)(0) --> methionine(7)(9)(0) mutant.", "Journal of medicinal chemistry", "2012 Mar 22", "Chang S, Zhang L, Xu S, Luo J, Lu X, Zhang Z, Xu T, Liu Y, Tu Z, Xu Y, Ren X, Geng M, Ding J, Pei D, Ding K", "protein_xref_pubmed", "22339342", "protein_xref_dbsnp", "1956" ], [ "P07949-1", "Characterization of the RET protooncogene transmembrane domain mutation S649L associated with nonaggressive medullary thyroid carcinoma.", "European journal of endocrinology", "2008 Jun", "Colombo-Benkmann M, Li Z, Riemann B, Hengst K, Herbst H, Keuser R, Gross U, Rondot S, Raue F, Senninger N, Putzer BM, Frank-Raue K", "protein_xref_pubmed", "18322301", "protein_xref_dbsnp", "5979" ], [ "P00533-1", "Efficacy and safety of osimertinib in a Japanese compassionate use program.", "Japanese journal of clinical oncology", "2017 Jul 1", "Fujiwara Y, Goto Y, Kanda S, Horinouchi H, Yamamoto N, Sakiyama N, Ando Makihara R, Ohe Y", "protein_xref_pubmed", "28419328", "protein_xref_dbsnp", "1956" ], [ "P00519-1", "Is AMN-107 a step forward from imatinib in the treatment of chronic myeloid leukaemia?", "Expert opinion on investigational drugs", "2005 Aug", "Doggrell SA", "protein_xref_pubmed", "16050798", "protein_xref_dbsnp", "25" ], [ "P00533-1", "Development and Clinical Utility of a Blood-Based Test Service for the Rapid Identification of Actionable Mutations in Non-Small Cell Lung Carcinoma.", "The Journal of molecular diagnostics : JMD", "2017 May", "Mellert H, Foreman T, Jackson L, Maar D, Thurston S, Koch K, Weaver A, Cooper S, Dupuis N, Sathyanarayana UG, Greer J, Hahn W, Shelton D, Stonemetz P, Pestano GA", "protein_xref_pubmed", "28433077", "protein_xref_dbsnp", "1956" ], [ "P15056-1", "Correlation between BRAF (V600E) mutation and clinicopathological features in pediatric papillary thyroid carcinoma.", "Science China. Life sciences", "2017 Jul", "Geng J, Wang H, Liu Y, Tai J, Jin Y, Zhang J, He L, Fu L, Qin H, Song Y, Su J, Zhang A, Wen X, Guo Y, Ni X", "protein_xref_pubmed", "28646474", "protein_xref_dbsnp", "673" ], [ "P21964-1", "The Association of the COMT V158M Polymorphism with Endometrial/Ovarian Cancer in HNPCC Families Adhering to the Amsterdam Criteria.", "Hereditary cancer in clinical practice", "2006 May 15", "Ashton KA, Meldrum CJ, McPhillips ML, Suchy J, Kurzawski G, Lubinski J, Scott RJ", "protein_xref_pubmed", "20223014", "protein_xref_dbsnp", "1312" ], [ "O60674-1", "Phenotypic variations and new mutations in JAK2 V617F-negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosis.", "Experimental hematology", "2007 Nov", "Williams DM, Kim AH, Rogers O, Spivak JL, Moliterno AR", "protein_xref_pubmed", "17920755", "protein_xref_dbsnp", "3717" ], [ "O43542-1", "DNA repair polymorphisms and outcome of chemotherapy for acute myelogenous leukemia: a report from the Children's Oncology Group.", "Leukemia", "2008 Feb", "Bhatla D, Gerbing RB, Alonzo TA, Mehta PA, Deal K, Elliott J, Meshinchi S, Geiger H, Perentesis JP, Lange BJ, Davies SM", "protein_xref_pubmed", "18033323", "protein_xref_dbsnp", "7517" ], [ "P25063-1", "CD24 Ala57Val polymorphism predicts pathologic complete response to sequential anthracycline- and taxane-based neoadjuvant chemotherapy for primary breast cancer.", "Breast cancer research and treatment", "2012 Apr", "Marme F, Werft W, Walter A, Keller S, Wang X, Benner A, Burwinkel B, Sinn P, Hug S, Sohn C, Bretz N, Moldenhauer G, Rupp C, Rupp AK, Biakhov MY, Bottini A, Friedrichs K, Khailenko VA, Manikhas GM, Ruiz A, Sanchez-Rovira P, Santoro A, Segui MA, Villena C, Lichter P, Kristiansen G, Altevogt P, Schneeweiss A", "protein_xref_pubmed", "21960110", "protein_xref_dbsnp", "100133941" ], [ "P15056-1", "Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Mucosal Melanomas.", "Head and neck pathology", "2017 Mar", "Williams MD", "protein_xref_pubmed", "28247222", "protein_xref_dbsnp", "673" ], [ "O60934-1", "Polymorphisms in DNA repair and metabolic genes in bladder cancer.", "Carcinogenesis", "2004 May", "Sanyal S, Festa F, Sakano S, Zhang Z, Steineck G, Norming U, Wijkstrom H, Larsson P, Kumar R, Hemminki K", "protein_xref_pubmed", "14688016", "protein_xref_dbsnp", "4683" ] ] }, "readme": "Name\n - Human Literature Mutations Citations\n\nVersion\n - v-2.0.3\n\nCreated on\n - \n\nModified on\n - \n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Karina Martinez [karinamartinez@gwu.edu], Robel Kahsay [rykahsay@gwu.edu]\n\nAuthors\n - \n\nChecksum\n - \n\nUsability Domain\n - The Human Literature Mutations Citations contains details of the publication present in the dataset Human Literature Mutations https://data.glygen.org/GLY_000463.\n\nDescription Domain\n Keywords\n - Literature\n - Mutation\n - Publications\n - Citations\n - PubMed\n\n Pipeline Steps\n - Step-1: The script extracts the PMID from the dataset and uses the Entrez API to retrieve the publication details and extracts in a csv dataset\n\nExecution Domain\n Scripts - https://github.com/glygener/glygen-backend-integration/blob/master/dataset-maker/make-protein-dataset.py\n\n\n Software Prerequisites\n Name: Python\n Version: 2.7.5\n URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n Input Subdomain\n Name: human_protein_mutation_literature.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.0.3/reviewed/human_protein_mutation_literature.csv\n Output Subdomain\n Name: human_protein_citations_mutation_literature.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.0.3/reviewed/human_protein_citations_mutation_literature.csv\n Name: human_protein_citations_mutation_literature.stat.csv\n URI: https:/data.glygen.org/ln2releases/data/v-2.0.3/reviewed/human_protein_citations_mutation_literature.stat.csv\n\nFields\n Name: \"uniprotkb_canonical_ac\"\n Description: \"\"\n Unique Values: \"461\"\n Name: \"title\"\n Description: \"Title of the published article in the journal\"\n Unique Values: \"4583\"\n Name: \"journal_name\"\n Description: \"The name of the journal in which the article is published\"\n Unique Values: \"887\"\n Name: \"publication_date\"\n Description: \"Contains the full date on which the issue of the journal was published. Sourced from MEDLINE/PubMed data element(fields) description.\"\n Unique Values: \"1263\"\n Name: \"authors\"\n Description: \"NA\"\n Unique Values: \"4547\"\n Name: \"xref_key\"\n Description: \"Source key associated to the xref_id\"\n Unique Values: \"1\"\n Name: \"xref_id\"\n Description: \"ID of the X-ref\"\n Unique Values: \"4595\"\n Name: \"src_xref_key\"\n Description: \"Source Xref key\"\n Unique Values: \"1\"\n Name: \"src_xref_id\"\n Description: \"Source X-ref ID\"\n Unique Values: \"465\"", "downloadurl": "/ln2data/releases/data/v-2.0.3/reviewed/human_protein_citations_mutation_literature.csv" }