Breast cancer 2, early onset
|PDB rendering based on 1n0w. The Protein Data Bank ( PDB) is a repository for 3-D structural data of Proteins and Nucleic acids These data typically obtained by X-ray crystallography|
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BRCA2 (Breast Cancer Type 2 susceptibility protein) is a human gene that is involved in the repair of chromosomal damage and belongs to a class of genes known as tumor suppressor genes. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles Human beings, humans or man (Origin 1590–1600 L homō man OL hemō the earthly one (see Humus History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance A chromosome is an organized structure of DNA and Protein that is found in cells. A tumor suppressor gene, or antioncogene is a Gene that protects a cell from one step on the path to cancer Tumor suppressor genes regulate the cycle of cell division by keeping cells from growing and dividing too rapidly or in an uncontrolled way.
Although the structures of the BRCA1 and BRCA2 genes are very different, their functions appear to be similar. BRCA1 ( Breast cancer 1 early onset is a Human Gene, some mutations of which are associated with a significant increase in the risk of Breast cancer The proteins made by both genes are essential for repairing damaged DNA. Proteins are large Organic compounds made of Amino acids arranged in a linear chain and joined together by Peptide bonds between the Carboxyl History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance The BRCA2 protein binds to and regulates the protein produced by the RAD51 gene to fix breaks in DNA. RAD51 is a human Gene. The Protein encoded by this gene is a member of the RAD51 protein family which assist in repair of DNA double strand breaks. These breaks can be caused by natural and medical radiation or other environmental exposures, but also occur when chromosomes exchange genetic material during a special type of cell division that creates sperm and eggs (meiosis). In Biology or life science meiosis (pronounced my-oh-sis is a process of reductional division in which the number of chromosomes per cell is cut in half The BRCA1 protein also interacts with the RAD51 protein. By repairing DNA, these three proteins play a role in maintaining the stability of the human genome. The human genome is the Genome of Homo sapiens, which is stored on 23 chromosome pairs
Like BRCA1, BRCA2 probably regulates the activity of other genes and plays a critical role in embryo development.
The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12. Chromosome 13 is one of the 23 pairs of Chromosomes in Humans People normally have two copies of this chromosome 3 (13q12. 3), from base pair 31,787,616 to base pair 31,871,804. In Molecular biology, two Nucleotides on opposite complementary DNA or RNA strands that are connected via Hydrogen bonds are called
Certain variations of the BRCA2 gene cause an increased risk for breast cancer. Breast cancer is a Cancer that starts in the cells of the Breast in women and men Researchers have identified about 450 mutations in the BRCA2 gene, many of which cause an increased risk of cancer. BRCA2 mutations are usually insertions or deletions of a small number of DNA base pairs (the building material of chromosomes) in the gene. As a result of these mutations, the protein product of the BRCA2 gene is abnormally short and does not function properly. Researchers believe that the defective BRCA2 protein is unable to help fix mutations that occur in other genes. As a result, mutations build up and can cause cells to divide in an uncontrolled way and form a tumor.
People who have two mutated copies of the BRCA2 gene have one type of Fanconi anemia. Fanconi anemia (FA is a genetic disease that affects children and adults from all ethnic backgrounds This condition is caused by extremely reduced levels of the BRCA2 protein in cells, which allows the accumulation of damaged DNA. Patients with Fanconi anemia are prone to several types of leukemia (a type of blood cell cancer); solid tumors, particularly of the head, neck, skin, and reproductive organs; and bone marrow suppression (reduced blood cell production that leads to anemia). Leukemia or leukaemia (Greek leukos λευκός, "white" aima αίμα, "blood" is a Cancer of the Blood Bone marrow suppression or myelotoxicity (adjective myelotoxic) is a serious side-effect of Chemotherapy and certain drugs affecting the immune system Anemia ( AmE) or anæmia/anaemia ( BrE) (from the Ancient Greek grc-Latn anaîmia, meaning “without blood” is defined as a qualitative
In addition to breast cancer in men and women, mutations in BRCA2 also lead to an increased risk of ovarian, Fallopian tube, prostate, and pancreatic cancers, as well as malignant melanoma. Ovarian cancer is a cancerous growth arising from an Ovary. The cancer most commonly forms in the lining of the ovary (resulting in epithelial The Fallopian tubes, also known as oviducts, uterine tubes, and salpinges ( singular salpinx) are two very fine tubes lined with ciliated Pancreatic cancer is a malignant tumor of the Pancreas. Each year about 37680 individuals in the United States are diagnosed with this condition and 34290 Melanoma is a Malignant Tumor of Melanocytes which are found predominantly in skin but also in the Bowel and the Eye (see In some studies, mutations in the central part of the gene have been associated with a higher risk of ovarian cancer and a lower risk of prostate cancer than mutations in other parts of the gene. Ovarian cancer is a cancerous growth arising from an Ovary. The cancer most commonly forms in the lining of the ovary (resulting in epithelial Several other types of cancer have also been seen in certain families with BRCA2 mutations.
The BRCA2 gene was discovered in 1995 by Professor Michael Stratton and Dr Richard Wooster (Institute of Cancer Research, UK). The Wellcome Trust Sanger Institute (Hinxton, Cambs, UK) collaborated with Stratton and Wooster to isolate the gene. In honour of this discovery and collaboration, the Wellcome Trust has participated in the construction of a cycle path between Addenbrooke's Hospital site in Cambridge and the nearby village of Great Shelford. It is decorated with over 10,000 lines of 4 colours representing the nucleotide sequence of BRCA2. It makes-up part of the National Cycle Network route 11, and can be seen from the Cambridge-London Liverpool Street train. The National Cycle Network is a network of cycle routes in the United Kingdom.