{"Name":"CHEK2-related cancer predisposition","DiseaseID__c":"GARD:0026411","id":26411,"encodedName":"chek2-related-cancer-predisposition","IsDeleted":false,"Disease_Name_Full__c":"CHEK2-related cancer predisposition","Xref_IDs__c":"C5882668; MEDGEN:1849727; MONDO:0700271; NBK615090; OMIM:609265","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0700271","Disease_Description__c":"Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer.","GARD_Name__c":"CHEK2-related cancer predisposition","GARD_Synonym__c":"cancer predisposition syndrome, chek2-related; chek2-related cancer susceptibility; tpds4; tumor predisposition syndrome 4","Curated_Disease_Description_Source__c":"MONDO:0700271","Curated_Disease_Description__c":"Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0700271","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer.","Curated_Disease_Description_Source__c":"MONDO:0700271","GARD_Synonym__c":"cancer predisposition syndrome, chek2-related; chek2-related cancer susceptibility; tpds4; tumor predisposition syndrome 4","Name":"CHEK2-related cancer predisposition","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0700271","Source__c":"GARD:0026411","Xref__c":"MONDO:0700271"},{"URL__c":"https://www.omim.org/entry/609265","Source__c":"C5882668","Xref__c":"OMIM:609265"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1849727","Source__c":"C5882668","Xref__c":"MEDGEN:1849727"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5882668","Source__c":"C5882668","Xref__c":"C5882668"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK615090","Source__c":"Gene Review","Xref__c":"NBK615090"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CHEK2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609265","Feature__r":{"HPO_Description__c":"A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100242","HPO_Synonym__c":"Cancer of connective tissue; Malignant connective tissue tumor","HPO_Name__c":"Sarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609265","Feature__r":{"HPO_Description__c":"The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009733","HPO_Name__c":"Glioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609265","Feature__r":{"HPO_Description__c":"A cancer arising in any part of the stomach.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012126","HPO_Synonym__c":"Gastric cancer","HPO_Name__c":"Stomach cancer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609265","Feature__r":{"HPO_Description__c":"The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002858","HPO_Name__c":"Meningioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609265","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003002","HPO_Synonym__c":"Breast cancer","HPO_Name__c":"Breast carcinoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["cancer predisposition syndrome, chek2-related"," chek2-related cancer susceptibility"," tpds4"," tumor predisposition syndrome 4"]}