{"Name":"Hereditary breast ovarian cancer syndrome","DiseaseID__c":"GARD:0015010","id":15010,"encodedName":"hereditary-breast-ovarian-cancer-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hereditary breast ovarian cancer syndrome","Xref_IDs__c":"718220008; C0677776; C8493; D061325; DOID:5683; MEDGEN:151793; MONDO:0003582; ORPHA:145","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0003582","Disease_Description__c":"An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.","GARD_Name__c":"Hereditary breast ovarian cancer syndrome","GARD_Synonym__c":"brca1- and brca2-associated hereditary breast and ovarian cancer; brca1- and brca2-associated hereditary breast and ovarian cancer (hboc); breast and ovarian cancer; familial breast and ovarian cancer syndrome; familial breast/ovarian cancer (brca1, brca2); hereditary breast and ovarian cancer; hereditary breast and ovarian cancer syndrome; hereditary breast and ovarian cancer syndrome (hboc); hereditary breast and/or ovarian cancer syndrome; hereditary breast/ovarian cancer (brca1, brca2)","Curated_Disease_Description_Source__c":"MONDO:0003582","Curated_Disease_Description__c":"A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:145","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0003582","ORPHANET_ID__c":"ORPHA:145","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de cáncer hereditario de mama y/o de ovario","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de cáncer hereditario de mama y/o de ovario","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","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":"A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history.","Curated_Disease_Description_Source__c":"MONDO:0003582","GARD_Synonym__c":"brca1- and brca2-associated hereditary breast and ovarian cancer; brca1- and brca2-associated hereditary breast and ovarian cancer (hboc); breast and ovarian cancer; familial breast and ovarian cancer syndrome; familial breast/ovarian cancer (brca1, brca2); hereditary breast and ovarian cancer; hereditary breast and ovarian cancer syndrome; hereditary breast and ovarian cancer syndrome (hboc); hereditary breast and/or ovarian cancer syndrome; hereditary breast/ovarian cancer (brca1, brca2)","Name":"Hereditary breast ovarian cancer syndrome","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Breastcancer.org","Website__c":"https://www.breastcancer.org/"},{"Account_Name__c":"Young Survival Coalition","Website__c":"https://youngsurvival.org/"},{"Account_Name__c":"CancerCare","Website__c":"https://www.cancercare.org/"},{"Account_Name__c":"Susan G. Komen","Website__c":"https://www.komen.org/"},{"Account_Name__c":"National Ovarian Cancer Coalition","Website__c":"https://ovarian.org/"},{"Account_Name__c":"Ovarian Cancer Research Alliance","Website__c":"https://ocrahope.org"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"FORCE: Facing Our Risk of Cancer Empowered","Website__c":"https://www.facingourrisk.org/"},{"Account_Name__c":"Tower Cancer Research Foundation","Website__c":"https://www.towercancer.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:145"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:145"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1247","Source__c":"Gene Review","Xref__c":"NBK1247"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0677776","Source__c":"C0677776","Xref__c":"C0677776"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C061325","Source__c":"C0677776; MONDO:0003582","Xref__c":"D061325"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C8493","Source__c":"C0677776; MONDO:0003582","Xref__c":"C8493"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718220008","Source__c":"C0677776; MONDO:0003582","Xref__c":"718220008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=151793","Source__c":"C0677776","Xref__c":"MEDGEN:151793"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5683","Source__c":"MONDO:0003582","Xref__c":"DOID:5683"},{"URL__c":"https://www.orpha.net/en/disease/detail/145","Source__c":"C0677776; MONDO:0003582; ORPHA:145","Xref__c":"ORPHA:145"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0003582","Source__c":"GARD:0015010","Xref__c":"MONDO:0003582"},{"URL__c":"https://www.cdc.gov/breast-ovarian-cancer-hereditary/index.html"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RAD51C","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BRCA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/brca1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BRCA2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/brca2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RAD51D","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:145","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030406","HPO_Name__c":"Primary peritoneal carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cancer of the prostate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012125","HPO_Synonym__c":"Prostatic cancer","HPO_Name__c":"Prostate cancer","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:145","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100615","HPO_Synonym__c":"Neoplasm of the ovaries; Neoplasm of the ovary; Ovarian tumor","HPO_Name__c":"Ovarian neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002894","HPO_Synonym__c":"Neoplasia of the pancreas; Pancreatic tumor","HPO_Name__c":"Neoplasm of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:145","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002861","HPO_Synonym__c":"Malignant melanoma","HPO_Name__c":"Melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:145","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the fallopian tube.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011027","HPO_Synonym__c":"Abnormality of the fallopian tube","HPO_Name__c":"Abnormal fallopian tube morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:145","HPO_Frequency__c":"Frequent (30-79%)","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":{"Specialist":["Cancer - Oncologist","Genetics","Obstetrics / Gynecology"],"Disease Category":["Cancer","Genetics","Urogenital Disorders"],"Cause":["Genetics"]},"synonyms":["brca1- and brca2-associated hereditary breast and ovarian cancer"," brca1- and brca2-associated hereditary breast and ovarian cancer (hboc)"," breast and ovarian cancer"," familial breast and ovarian cancer syndrome"," familial breast/ovarian cancer (brca1, brca2)"," hereditary breast and ovarian cancer"," hereditary breast and ovarian cancer syndrome"," hereditary breast and ovarian cancer syndrome (hboc)"," hereditary breast and/or ovarian cancer syndrome"," hereditary breast/ovarian cancer (brca1, brca2)"]}