Hereditary breast and ovarian cancer syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 3 |
OrphanetNr: | 145 |
OMIM Id: |
604370
612555 613399 614291 |
ICD-10: |
C50 C56 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 25 of 100 000 [Orphanet] |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Familial ovarian cancer
-Rare genetic disease Rare genetic gynecological and obstetrical diseases -Rare genetic disease Rare malignant breast tumor -Rare gynecologic or obstetric disease -Rare oncologic disease |
Symptom Information:
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(HPO:0003002) | Breast carcinoma | 23 / 7739 | ||||
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(HPO:0001426) | Multifactorial inheritance | 37 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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