{ "biomarker_id": "AN6769-1", "biomarker_canonical_id": "AN6769", "condition": { "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "id": "DOID:2394" }, "biomarker_component": [ { "biomarker": "CDK12 lower prevalance rates", "assessed_biomarker_entity_id": "Q9NYV4-1", "assessed_entity_type": "protein", "assessed_biomarker_entity": { "recommended_name": "Cyclin-dependent kinase 12", "synonyms": [ { "synonym": "Cdc2-related kinase, arginine/serine-rich" }, { "synonym": "CrkRS" }, { "synonym": "Cell division protein kinase 12" }, { "synonym": "hCDK12" }, { "synonym": "Cell division cycle 2-related protein kinase 7" }, { "synonym": "CDC2-related protein kinase 7" } ] }, "specimen": [ { "name": "ovary", "namespace": "UBERON", "id": "0000992", "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "loinc_code": "" } ], "evidence_source": [ { "id": "AN6769-1", "database": "BiomarkerKB", "url": "https://biomarkerkb.org/biomarker/AN6769-1" }, { "id": "21720365", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21720365", "tags": [ "assessed_biomarker_entity", " biomarker", " specimen" ], "evidence_list": [ { "evidence": "Here we report that high-grade serous ovarian cancer is characterized by TP53 mutations in almost all tumours (96%); low prevalence but statistically recurrent somatic mutations in nine further genes including NF1, BRCA1, BRCA2, RB1 and CDK12; 113 significant focal DNA copy number aberrations; and promoter methylation events involving 168 genes. Pathway analyses suggested that homologous recombination is defective in about half of the tumours analysed, and that NOTCH and FOXM1 signalling are involved in serous ovarian cancer pathophysiology." } ] } ] } ], "best_biomarker_role": [ { "role": "prognostic" } ], "evidence_source": [ { "id": "AN6769-1", "database": "BiomarkerKB", "url": "https://biomarkerkb.org/biomarker/AN6769-1" }, { "id": "21720365", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21720365", "tags": [ "best_biomarker_role", " condition" ], "evidence_list": [ { "evidence": "Here we report that high-grade serous ovarian cancer is characterized by TP53 mutations in almost all tumours (96%); low prevalence but statistically recurrent somatic mutations in nine further genes including NF1, BRCA1, BRCA2, RB1 and CDK12; 113 significant focal DNA copy number aberrations; and promoter methylation events involving 168 genes. Pathway analyses suggested that homologous recombination is defective in about half of the tumours analysed, and that NOTCH and FOXM1 signalling are involved in serous ovarian cancer pathophysiology." } ] } ], "crossref": [ { "id": "AN6769-1", "database": "BiomarkerKB", "url": "https://biomarkerkb.org/biomarker/AN6769-1", "categories": [ "Biomarkers" ] } ], "citation": [ { "title": "Integrated genomic analyses of ovarian carcinoma.", "journal": "Nature", "authors": "Bell D, Berchuck A, Birrer M, Chien J, Cramer D, Dao F, Dhir R, DiSaia P, Gabra H, Glenn P, Godwin A, Gross J, Hartmann L, Huang M, Huntsman D, Iacocca M, Imielinski M, Kalloger S, Karlan B, Levine D, Mills G, Morrison C, Mutch D, Olvera N, Orsulic S, Park K, Petrelli N, Rabeno B, Rader J, Sikic B, Smith-McCune K, Sood A, Bowtell D, Penny R, Testa J, Chang K, Dinh H, Drummond J, Fowler G, Gunaratne P, Hawes A, Kovar C, Lewis L, Morgan M, Newsham I, Santibanez J, Reid J, Trevino L, Wu Y-, Wang M, Muzny D, Wheeler D, Gibbs R, Getz G, Lawrence M, Cibulskis K, Sivachenko A, Sougnez C, Voet D, Wilkinson J, Bloom T, Ardlie K, Fennell T, Baldwin J, Gabriel S, Lander E, Ding LL, Fulton R, Koboldt D, McLellan M, Wylie T, Walker J, O'Laughlin M, Dooling D, Fulton L, Abbott R, Dees N, Zhang Q, Kandoth C, Wendl M, Schierding W, Shen D, Harris C, Schmidt H, Kalicki J, Delehaunty K, Fronick C, Demeter R, Cook L, Wallis J, Lin L, Magrini V, Hodges J, Eldred J, Smith S, Pohl C, Vandin F, Raphael B, Weinstock G, Mardis E, Wilson R, Meyerson M, Winckler W, Getz G, Verhaak R, Carter S, Mermel C, Saksena G, Nguyen H, Onofrio R, Lawrence M, Hubbard D, Gupta S, Crenshaw A, Ramos A, Ardlie K, Chin L, Protopopov A, Zhang J, Kim T, Perna I, Xiao Y, Zhang H, Ren G, Sathiamoorthy N, Park R, Lee E, Park P, Kucherlapati R, Absher M, Waite L, Sherlock G, Brooks J, Li J, Xu J, Myers R, Laird PW, Cope L, Herman J, Shen H, Weisenberger D, Noushmehr H, Pan F, Triche T Jr, Berman B, Van Den Berg D, Buckley J, Baylin S, Spellman P, Purdom E, Neuvial P, Bengtsson H, Jakkula L, Durinck S, Han J, Dorton S, Marr H, Choi Y, Wang V, Wang N, Ngai J, Conboy J, Parvin B, Feiler H, Speed T, Gray J, Levine A, Socci N, Liang Y, Taylor B, Schultz N, Borsu L, Lash A, Brennan C, Viale A, Sander C, Ladanyi M, Hoadley K, Meng S, Du Y, Shi Y, Li L, Turman Y, Zang D, Helms E, Balu S, Zhou X, Wu J, Topal M, Hayes D, Perou C, Getz G, Voet D, Saksena G, Zhang J, Zhang H, Wu C, Shukla S, Cibulskis K, Lawrence M, Sivachenko A, Jing R, Park R, Liu Y, Park P, Noble M, Chin L, Carter H, Kim D, Karchin R, Spellman P, Purdom E, Neuvial P, Bengtsson H, Durinck S, Han J, Korkola J, Heiser L, Cho R, Hu Z, Parvin B, Speed T, Gray J, Schultz N, Cerami E, Taylor B, Olshen A, Reva B, Antipin Y, Shen R, Mankoo P, Sheridan R, Ciriello G, Chang W, Bernanke J, Borsu L, Levine D, Ladanyi M, Sander C, Haussler D, Benz C, Stuart J, Benz S, Sanborn J, Vaske C, Zhu J, Szeto C, Scott G, Yau C, Hoadley K, Du Y, Balu S, Hayes D, Perou C, Wilkerson M, Zhang N, Akbani R, Baggerly K, Yung W, Mills G, Weinstein J, Penny R, Shelton T, Grimm D, Hatfield M, Morris S, Yena P, Rhodes P, Sherman M, Paulauskis J, Millis S, Kahn A, Greene J, Sfeir R, Jensen M, Chen J, Whitmore J, Alonso S, Jordan J, Chu A, Zhang J, Barker A, Compton C, Eley G, Ferguson M, Fielding P, Gerhard D, Myles R, Schaefer C, Mills Shaw K, Vaught J, Vockley J, Good P, Guyer M, Ozenberger B, Peterson J, Thomson E", "date": "2011", "reference": [ { "type": "PubMed", "id": "21720365", "url": "https://glygen.org/publication/PubMed/21720365" } ], "evidence": [ { "id": "AN6768-1", "database": "BiomarkerKB", "url": "https://biomarkerkb.org/biomarker/AN6769-1" } ] } ], "section_stats": [ { "table_id": "biomarker_component", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "biomarker", "assessed_biomarker_entity_id", "assessed_entity_type", "assessed_biomarker_entity.recommended_name" ] }, { "table_id": "citation", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "authors", "date" ] } ] }