breast cancer Researchers have identified more than 1,800 mutations in the BRCA2 gene. Many of these mutations are associated with an increased risk of breast cancer in both men and women, as well as several other types of cancer. These mutations are present in every cell in the body and can be passed from one generation to the next. As a result, they are associated with cancers that cluster in families. However, not everyone who inherits a mutation in the BRCA2 gene will develop cancer. Other genetic, environmental, and lifestyle factors also contribute to a person's cancer risk. Most BRCA2 gene mutations lead to the production of an abnormally small, nonfunctional version of the BRCA2 protein from one copy of the gene in each cell. As a result, less of this protein is available to help repair damaged DNA or fix mutations that occur in other genes. As these defects accumulate, they can trigger cells to grow and divide uncontrollably to form a tumor. Fanconi anemia Genetics Home Reference provides information about Fanconi anemia. ovarian cancer Many of the same BRCA2 gene mutations that increase the risk of breast cancer (described above) also increase the risk of ovarian cancer. Families with these mutations are often said to be affected by hereditary breast and ovarian cancer syndrome. Women with BRCA2 gene mutations have an approximately 12 to 25 percent chance of developing ovarian cancer in their lifetimes, as compared with 1.6 percent in the general population. prostate cancer More than 30 inherited BRCA2 gene mutations have been found to increase the risk of prostate cancer. Men with these mutations are also more likely to develop prostate cancer at an earlier age and may be at increased risk of having an aggressive form of the disease. They may also be at increased risk for other cancers. BRCA2 gene mutations likely reduce the BRCA2 protein's ability to repair DNA, allowing potentially damaging mutations to persist in various other genes. The accumulation of damaging mutations can lead to the out-of-control cell growth and division that can result in development of a tumor. other cancers Inherited mutations in the BRCA2 gene also increase the risk of several other types of cancer, including pancreatic cancer and an aggressive form of skin cancer called melanoma. These mutations impair the ability of the BRCA2 protein to help repair damaged DNA. As defects accumulate in DNA, they can trigger cells to grow and divide without order to form a tumor. It is not clear why different individuals with BRCA2 mutations develop cancers in different organs. Environmental factors that affect specific organs may contribute to the development of cancers at particular sites.

     The BRCA2 gene provides instructions for making a protein that acts as a tumor suppressor. Tumor suppressor proteins help prevent cells from growing and dividing too rapidly or in an uncontrolled way. The BRCA2 protein is involved in repairing damaged DNA. In the nucleus of many types of normal cells, the BRCA2 protein interacts with several other proteins to mend breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and they also occur when chromosomes exchange genetic material in preparation for cell division. By helping to repair DNA, the BRCA2 protein plays a critical role in maintaining the stability of a cell's genetic information. Researchers suspect that the BRCA2 protein has additional functions within cells. For example, the protein may help regulate cytokinesis, which is the step in cell division when the fluid surrounding the nucleus (the cytoplasm) divides to form two separate cells. Researchers are investigating the protein's other potential activities.

The following transcription factors affect gene expression:

• NF-kappaB
• GR
• GR-alpha
• p53
• CREB
• deltaCREB
• NF-kappaB1
• NF-1

Tissue specificity:

Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.

Molecular Function:

• Protease Binding
• Single-Stranded Dna Binding
• Protein C-Terminus Binding
• H3 Histone Acetyltransferase Activity
• H4 Histone Acetyltransferase Activity
• Gamma-Tubulin Binding

Biological Processes:

• Telomere Maintenance Via Recombination
• Double-Strand Break Repair Via Homologous Recombination
• Dna Synthesis Involved In Dna Repair
• Strand Displacement
• Cytokinesis
• Oocyte Maturation
• Inner Cell Mass Cell Proliferation
• Nucleotide-Excision Repair
• Double-Strand Break Repair
• Dna Damage Response, Signal Transduction By P53 Class Mediator Resulting In Transcription Of P21 Class Mediator
• Male Meiosis I
• Spermatogenesis
• Brain Development
• Cell Aging
• Response To Nutrient
• Female Gonad Development
• Response To X-Ray
• Response To Uv-C
• Response To Gamma Radiation
• Hemopoiesis
• Mammary Gland Development
• Chromosome Breakage
• Homologous Chromosome Orientation Involved In Meiotic Metaphase I Plate Congression
• Response To Estradiol
• Regulation Of Cytokinesis
• Negative Regulation Of Mammary Gland Epithelial Cell Proliferation
• Multicellular Organism Growth
• Intrinsic Apoptotic Signaling Pathway In Response To Dna Damage By P53 Class Mediator
• Histone H3 Acetylation
• Histone H4 Acetylation
• Positive Regulation Of Transcription, Dna-Templated
• Positive Regulation Of Mitotic Cell Cycle
• Replication Fork Protection
• Centrosome Duplication
• Establishment Of Protein Localization To Telomere
• Mitotic Recombination-Dependent Replication Fork Processing