Breast-Ovarian Cancer, Familial, Susceptibility to, 1

Alternative Names

  • BROVCA1
  • HBOC1
  • Breast Cancer, Familial, Susceptibility to, 1
  • Ovarian Cancer, Familial, Susceptibility to, 1

Associated Genes

Breast Cancer 1 Gene
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WHO-ICD-10 version:2010

Neoplasms

Malignant neoplasms

OMIM Number

604370

Mode of Inheritance

Autosomal dominant -Multifactorial

Gene Map Locus

17q21.31

Description

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. [From Orphanet]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604370.1YemenFemale Ovarian neoplasmNM_007294.4:c.1140dupAl-Ali et al. 2023
604370.2EgyptFemale Breast carcinomaNM_007294.4:c.1224delAl-Ali et al. 2023
604370.3United Arab EmiratesFemale Breast carcinomaNM_007294.4:c.3228_3229delAl-Ali et al. 2023
604370.4United Arab EmiratesFemaleYes Breast carcinomaNM_007294.4:c.4065_4068delAl-Ali et al. 2023
604370.5United Arab EmiratesFemaleYes Ovarian neoplasmNM_007294.4:c.4065_4068delAl-Ali et al. 2023
604370.6United Arab EmiratesFemaleYes Ovarian neoplasmNM_007294.4:c.4065_4068delAl-Ali et al. 2023
604370.7United Arab EmiratesFemaleYes Breast carcinomaNM_007294.4:c.1250A>GAl-Ali et al. 2023
604370.8United Arab EmiratesFemaleNo Breast carcinomaNM_007294.4:c.5260G>CAl-Ali et al. 2023
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