The Genetic Genealogist

Today represents a brief break from genetic genealogy, in a way, but I thought the topic was interesting enough to talk about.

BRCA2 (Breast Cancer Type 2 susceptibility protein) is a tumor suppressor gene involved in the repair of DNA damage. BRCA2 binds to and regulates another protein (the product of the RAD51 gene) to fix DNA breaks caused by any number of factors. BRCA2 was discovered in 1995 by Professor Michael Stratton and Dr. Richard Wooster in cooperation with the Wellcome Trust Sanger Institute.

To date, researchers have identified 450 different mutations in the BRCA2 gene, some of which unfortunately cause an increased risk of cancer. Typically, the mutated gene produces an abnormally short protein that is unable to help the cell fix DNA breaks. Thus, mutations can accumulate and eventually lead to cancer (breast, ovarian, prostate, or pancreatic).

As always, identifying a gene involved in cancer is just the first step in what will someday be prevention of cancer. In honor of the discovery of the BRCA2 gene, the Wellcome Trust helped in the construction of a bicycle path between Addenbrooke’s Hospital in Cambridge and the nearby village of Great Shelford. The path, part of the National Cycle Network Route 11, is decorated with over 10,000 lines of 4 colors representing the nucleotide sequence of BRCA2. You can see a brief portion of the path in the picture above.

According to a recent article in Nature (doi:10.1038/447991a), “were the entire human genome laid down at the same scale, the path would circle Earth about ten times.

Many thanks to Brian!