Hereditary Breast and Ovarian Cancer Syndrome

URI: https://gptkb.org/entity/Hereditary_Breast_and_Ovarian_Cancer_Syndrome
GPTKB entity
Statements (37)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb:hereditary_cancer_syndrome
gptkbp:affects both men and women
gptkbp:alsoKnownAs gptkb:HBOC
gptkbp:associatedWith family history of breast or ovarian cancer
gptkbp:chemoprevention gptkb:tamoxifen
raloxifene
gptkbp:diagnosedBy genetic testing
gptkbp:firstDescribed 1990s
gptkbp:geneticCounselingRecommended yes
gptkbp:ICD-10_code Z15.01
gptkbp:inheritsFrom autosomal dominant manner
gptkbp:managedBy risk-reducing surgery
chemoprevention
increased surveillance
gptkbp:MeSH_ID D054549
gptkbp:mutationAssociatedWith gptkb:BRCA1_gene
gptkb:BRCA2_gene
gptkbp:OMIM 604370
gptkbp:parentDisorder hereditary cancer predisposition syndrome
gptkbp:prevalence about 1 in 400 people
gptkbp:riskFactor gptkb:cancer
pancreatic cancer
prostate cancer
gptkbp:riskOfBreastCancerByAge70 up to 69% (BRCA2 mutation carriers)
up to 72% (BRCA1 mutation carriers)
gptkbp:riskOfOvarianCancerByAge70 up to 17% (BRCA2 mutation carriers)
up to 44% (BRCA1 mutation carriers)
gptkbp:riskReducingSurgery mastectomy
salpingo-oophorectomy
gptkbp:screeningRecommendations CA-125 blood test
annual breast MRI
annual mammogram
transvaginal ultrasound for ovaries
gptkbp:bfsParent gptkb:Breast_cancer_type_1_susceptibility_protein
gptkbp:bfsLayer 8
https://www.w3.org/2000/01/rdf-schema#label Hereditary Breast and Ovarian Cancer Syndrome