{"Name":"Familial cancer of breast","DiseaseID__c":"GARD:0017142","id":17142,"encodedName":"familial-cancer-of-breast","IsDeleted":false,"Disease_Name_Full__c":"Familial cancer of breast","Xref_IDs__c":"254843006; C0346153; C4503; C562840; MEDGEN:87542; MONDO:0016419; OMIM:114480; ORPHA:227535","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016419","Disease_Description__c":"Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.","GARD_Name__c":"Familial cancer of breast","GARD_Synonym__c":"breast cancer susceptibility, autosomal dominant, somatic mutation; breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation; breast cancer, familial; breast cancer, invasive ductal, autosomal dominant, somatic mutation; breast cancer, lobular, somatic; breast cancer, male, susceptibility to, autosomal dominant, somatic mutation; breast cancer, protection against, autosomal dominant, somatic mutation; breast cancer, somatic; breast cancer, susceptibility to, autosomal dominant, somatic mutation; familial breast cancer; familial breast carcinoma; familial cancer of the breast; hereditary breast cancer; hereditary breast carcinoma","Curated_Disease_Description_Source__c":"ORPHA:227535","Curated_Disease_Description__c":"A rare genetic gynecological tumor characterized by early onset breast cancer in association with a germline mutation. Tumors arising in carriers of <i>BRCA1</i> and <i>BRCA2</i> mutations differ morphologically and genetically from each other, as well as from sporadic breast cancers. Most <i>BRCA1</i>-associated tumors are invasive ductal adenocarcinomas of no special type, typically of higher grade than sporadic tumors, and more often negative for hormone receptors. In addition, more cases with features of typical or atypical medullary carcinoma are seen in these patients. Likewise, <i>BRCA2</i>-associated tumors tend to be of higher grade than sporadic ones, although their phenotype is similar. They show a low frequency of HER-2 expression.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:227535","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016419","ORPHANET_ID__c":"ORPHA:227535","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cáncer de mama hereditario","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"cáncer de mama hereditario","Spanish_GARD_Synonym__c":"carcinoma de mama familiar; carcinoma de mama hereditario; cáncer de mama familiar","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 rare genetic gynecological tumor characterized by early onset breast cancer in association with a germline mutation. Tumors arising in carriers of <i>BRCA1</i> and <i>BRCA2</i> mutations differ morphologically and genetically from each other, as well as from sporadic breast cancers. Most <i>BRCA1</i>-associated tumors are invasive ductal adenocarcinomas of no special type, typically of higher grade than sporadic tumors, and more often negative for hormone receptors. In addition, more cases with features of typical or atypical medullary carcinoma are seen in these patients. Likewise, <i>BRCA2</i>-associated tumors tend to be of higher grade than sporadic ones, although their phenotype is similar. They show a low frequency of HER-2 expression.","Curated_Disease_Description_Source__c":"ORPHA:227535","GARD_Synonym__c":"breast cancer susceptibility, autosomal dominant, somatic mutation; breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation; breast cancer, familial; breast cancer, invasive ductal, autosomal dominant, somatic mutation; breast cancer, lobular, somatic; breast cancer, male, susceptibility to, autosomal dominant, somatic mutation; breast cancer, protection against, autosomal dominant, somatic mutation; breast cancer, somatic; breast cancer, susceptibility to, autosomal dominant, somatic mutation; familial breast cancer; familial breast carcinoma; familial cancer of the breast; hereditary breast cancer; hereditary breast carcinoma","Name":"Familial cancer of breast","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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":"Breast Friends","Website__c":"https://breastfriends.org/"},{"Account_Name__c":"SHARE: Cancer Support","Website__c":"https://www.sharecancersupport.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.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:227535"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:227535"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1247","Source__c":"Gene Review","Xref__c":"NBK1247"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254843006","Source__c":"C0346153; MONDO:0016419","Xref__c":"254843006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87542","Source__c":"C0346153","Xref__c":"MEDGEN:87542"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0346153","Source__c":"C0346153","Xref__c":"C0346153"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4503","Source__c":"C0346153; MONDO:0016419","Xref__c":"C4503"},{"URL__c":"https://www.orpha.net/en/disease/detail/227535","Source__c":"C0346153; MONDO:0016419; ORPHA:227535","Xref__c":"ORPHA:227535"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562840","Source__c":"MONDO:0016419","Xref__c":"C562840"},{"URL__c":"https://www.omim.org/entry/114480","Source__c":"MONDO:0016419","Xref__c":"OMIM:114480"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016419","Source__c":"GARD:0017142","Xref__c":"MONDO:0016419"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RB1CC1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HMMR","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PIK3CA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pik3ca","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RAD54L","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RAD51","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rad51","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":"CASP8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"XRCC3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ATM","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atm","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PPM1D","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ppm1d","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BRIP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BARD1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CDH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdh1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TP53","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tp53","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SLC67A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kras","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PHB1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"AKT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/akt1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ESR1","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}],"Inheritance__c":["Non-Mendelian inheritance","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:114480","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":["breast cancer susceptibility, autosomal dominant, somatic mutation"," breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation"," breast cancer, familial"," breast cancer, invasive ductal, autosomal dominant, somatic mutation"," breast cancer, lobular, somatic"," breast cancer, male, susceptibility to, autosomal dominant, somatic mutation"," breast cancer, protection against, autosomal dominant, somatic mutation"," breast cancer, somatic"," breast cancer, susceptibility to, autosomal dominant, somatic mutation"," familial breast cancer"," familial breast carcinoma"," familial cancer of the breast"," hereditary breast cancer"," hereditary breast carcinoma"]}