Breast-Ovarian Cancer, Familial, Susceptibility To, 2

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Alternative Names

  • BROVCA2
  • HBOC2
  • Breast Cancer, Familial, Susceptibility to, 2
  • Ovarian Cancer, Familial, Susceptibility to, 2

Associated Genes

BRCA2 Gene
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WHO-ICD-10 version:2010

Neoplasms

Malignant neoplasms

OMIM Number

612555

Mode of Inheritance

Autosomal dominant

Gene Map Locus

13q13.1

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
612555.1United Arab EmiratesFemaleNo Breast carcinoma
Breast carcinoma click to copy
NM_000059.4:c.262_263delAl-Ali et al. 2023
612555.2United Arab EmiratesFemaleNo Breast carcinoma
Breast carcinoma click to copy
NM_000059.4:c.262_263delAl-Ali et al. 2023
612555.4United Arab EmiratesFemale Breast carcinoma
Breast carcinoma click to copy
NM_000059.4:c.5645C>AAl-Ali et al. 2023
612555.5United Arab EmiratesFemale Breast carcinoma
Breast carcinoma click to copy
NM_000059.4:c.7006C>TAl-Ali et al. 2023
612555.6IraqFemaleYes Breast carcinoma
Breast carcinoma click to copy
NM_000059.4:c.7007G>AAl-Ali et al. 2023
612555.8United Arab EmiratesFemaleYes Ovarian neoplasm
Ovarian neoplasm click to copy
NM_000059.4:c.8023A>GAl-Ali et al. 2023
612555.9United Arab EmiratesFemaleNo Breast carcinoma
Breast carcinoma click to copy
NM_000059.4:c.5474C>TAl-Ali et al. 2023
612555.10United Arab EmiratesFemaleNo Ovarian neoplasm
Ovarian neoplasm click to copy
NM_000059.4:c.4574A>TAl-Ali et al. 2023
612555.11AlgeriaFemaleNo Breast carcinoma
Breast carcinoma click to copy
NM_000059.4:c.8782G>TAl-Ali et al. 2023
612555.12United Arab EmiratesFemaleNo Breast carcinoma
Breast carcinoma click to copy
NM_000059.4:c.6842G>AAl-Ali et al. 2023
612555.13United Arab EmiratesFemaleNo Breast carcinoma
Breast carcinoma click to copy
NM_000059.4:c.9104A>CAl-Ali et al. 2023
612555.14United Arab EmiratesFemaleNo Breast carcinoma
Breast carcinoma click to copy
NM_000059.4:c.3762G>TAl-Ali et al. 2023
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External Links

https://www.ncbi.nlm.nih.gov/books/NBK1247/ https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=145

Contributors

  • Pratibha Nair: 24.01.2024

Edit History

  • Pratibha Nair: 24.01.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.