BRCA2 (Breast Cancer Type 2 susceptibility protein) is a protein that in humans is encoded by the ''BRCA2'' gene.
''BRCA2'' orthologs have been identified in most mammals for which complete genome data are available.
''BRCA2'' belongs to the tumor suppressor gene family and the protein encoded by this gene is involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double strand breaks.
The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3 (13q12.3), from base pair 31,787,616 to base pair 31,871,804.
A striking example of a founder mutation is found in Iceland, where a single BRCA2 (999del5) mutation accounts for virtually all breast/ovarian cancer families. This frame-shift mutation leads to a highly truncated protein product.
In a large study examining hundreds of cancer and control individuals, this 999del5 mutation was found in 0.6% of the general population.
Of note, while 72% of patients who were found to be carriers had a moderate or strong family history of breast cancer, 28% had little or no family history of the disease. This strongly suggests the presence of modifying genes that affect the phenotypic expression of this mutation, or possibly the interaction of the BRCA2 mutation with environmental factors.
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