BRCA2

BRCA2 is a protein in the nuclei of most eukaryotes, which takes as a subunit of several protein complexes play a key role in DNA repair and homologous recombination. In humans, BRCA2 is produced mainly in breast and thymus, as well as in the lung, ovary and spleen. Mutations in the BRCA2 gene are responsible for increased risk for breast and ovarian cancer, as well as for the Fanconi anemia group D type 1. The gene is therefore counted in the ( outdated) class of tumor suppressor genes.

The BRCA2 protein binds to RAD51 and PALB2. The complex with RAD51 binds with the help of PALB2 at DNA double -strand breaks and initiates the DNA repair. BRCA2 is required for the formation of RAD51 Nukleofilamente by RPA from resected DNA portion and replaced by Rad51 it. BRCA2 is therefore essential for the genomic stability of a eukaryotic cell.

Name

BRCA2 is an abbreviation for the English term breast cancer 2, early-onset ( German: breast cancer 2, early onset ), in some publications, the gene is also called breast cancer gene 2.

The location of BRCA2 in the genome

The BRCA2 gene is located on the long arm ( q arm ) of chromosome 13, locus 12.3. It extends from base pair 31,787,616 to base pair 31,871,804, that is, it includes 84 193 base pairs. The resultant encoded protein consists of 3418 amino acids and has a molar mass of 384,225 Da.

Risk and detection

Women and men with a germline mutation in BRCA2 have an increased risk of developing breast or ovarian cancer, but also in other cancers.

With the help of a DNA analysis can be determined whether a patient has a mutated form of the BRCA2 gene. For women and men with a family history of breast and ovarian cancer, the statutory health insurance companies cover the cost of counseling, genetic testing and screening program. The performance of the test is considered to be useful if one of the following criteria apply:

  • At least two people in the family or were diagnosed with breast cancer, of which at least one before the age of 51
  • Three people with breast cancer in the family (regardless of the age of onset )
  • An illness in the family with unilateral breast cancer and an age of onset before 31 years of age
  • A case of double-sided breast cancer in the family, the first disease at the age of 41 years or have occurred previously, is
  • One case of ovarian cancer in the family, when the disease occurred before the age of 41
  • One in the family with breast and ovarian cancer
  • Two or more cases of ovarian cancer in the family.

Before and after genetic testing are intensive discussions with the patient is of great importance.

Discovery

The BRCA2 gene was discovered in 1994 by Michael Stratton and Richard Wooster at the Institute of Cancer Research, University of London.

Prevention

See BRCA1 # prevention

Pictures of BRCA2

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