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Genetic Archaeology
GENETIC ARCHAEOLOGY // PROFILE

BRCA2

Breast Cancer Gene 2

CHR 13
13q13.1

Overview

BRCA2 is another important tumor suppressor gene, closely related to BRCA1, and playing a similar role in DNA repair.

📍 Chromosomal Position

13q13.1 (Chromosome 13)

🧬 Gene Category

Tumor Suppressor

🔬 Inheritance

Autosomal dominant

📊 Prevalence

1:400 to 1:800

Function & Significance

BRCA2 is essential for homologous recombination, a major DNA repair mechanism. It works together with RAD51 to repair DNA double-strand breaks.

🔬 DNA Repair

BRCA2 plays a central role in repairing DNA double-strand breaks through homologous recombination. Mutations lead to:

  • Genomic instability
  • Increased mutation rate
  • Carcinogenesis

Associated Diseases

  • 🎗️ Hereditary Breast and Ovarian Cancer Syndrome

    Up to 85% lifetime risk for breast cancer in mutation carriers

  • 👨 Breast Cancer in Men

    BRCA2 mutations also significantly increase the risk in men

  • 🔬 Prostate Cancer

    Increased risk for aggressive prostate cancer

  • 🎯 Pancreatic Cancer

    3-5 fold increased risk

🧬 Relevant SNPs (Single Nucleotide Polymorphisms)

Key pathogenic variants in BRCA2:

rs80359550
13:32913055
Allele 1

C

/

Allele 2

T

Significance: 6174delT – a common mutation in Ashkenazi Jews (~1% carrier rate). Leads to a truncated, non-functional protein.

rs80359605
13:32914437
Allele 1

G

/

Allele 2

A

Significance: Pathogenic variant in the DNA-binding domain. Impairs the ability to repair DNA.

Clinical Relevance

⚕️ Genetic Testing

BRCA2 testing is recommended in cases of:

  • Familial clustering of breast or ovarian cancer
  • Breast cancer in men
  • Early onset of disease (< 50 years)
  • Multiple primary tumors

💊 Management & Prevention

For BRCA2 mutation carriers:

  • Intensified early detection (MRI, mammography)
  • Prophylactic mastectomy (90% risk reduction)
  • Prophylactic oophorectomy
  • PARP inhibitors if cancer develops
  • Regular prostate screenings (men)

📚 Data Sources

The information on this page is based on the following scientific sources:

  • OMIM: #600185 – Online Mendelian Inheritance in Man
  • ClinVar: Clinical Variant Database (NCBI)
  • dbSNP: rs80359550, rs80359605 – SNP Database (NCBI)
  • NCCN Guidelines: Genetic/Familial High-Risk Assessment
  • PubMed: Peer-reviewed scientific literature

Last Update: February 2026

Biological Function

BRCA2 is essential for homologous recombination, a critical DNA repair mechanism. It works with RAD51 to repair DNA double-strand breaks. Like BRCA1, mutations in BRCA2 significantly increase the risk for various cancers.

Associated Conditions

Hereditary Breast and Ovarian Cancer Syndrome Breast Cancer (also in men) Ovarian Cancer Prostate Cancer Pancreatic Cancer Melanoma
Molecular Analysis

Analyzed Markers

rs80359550 Pathogenic
Pos: 13:32913055 | Alleles: C/T

6174delT - Common mutation in Ashkenazi Jews

rs80359605 Pathogenic
Pos: 13:32914437 | Alleles: G/A

Pathogenic variant in DNA binding domain