I love solving mysteries and problems, which is how I would describe what I do for a living. Technically speaking, I am a biochemist – a structural biologist. I like looking at the 3-dimensional structure of proteins and understanding how other things (other proteins, DNA, small molecules, etc) fit into those proteins. And while I have some interest in understanding the biological processes of cancer, I am not a cancer researcher. However, I have been spending a lot of my spare time trying to understanding more about BRCA2 (pronounced as “bracka two” and stands for Breast Cancer Type 2 susceptibility protein). For most genes and proteins, the gene is in italics while the protein remains in normal font.
BRCA2 was discovered in 1995 by Professor Michael Stratton and Dr. Richard Wooster in cooperation with the Wellcome Trust Sanger Institute. This institute is a charitably funded genomic research center and is located about 9 miles south of Cambridge in a town called Hinxton. The Sanger Institute is a leader in the Human Genome Project, which is an international scientific research project intended to map and identify all of the genes of human genome, both physically and functionally. (Sidenote: a genome is the genetic instructions of how an organism is put together and functions.) From the beginning of the even the idea of the project, there have been strong supporters and strong detractors of this project.
Recently, El’s family has undergone some extensive genetic testing to unveil that some of his family members have a mutation in the BRCA2 gene. His family has a history of breast cancer, specifically related to this gene. Some mutations (but not others) in BRCA2 lead to an abnormal function in the BRCA2 protein. To date, researchers have identified over 450 different mutations in the BRCA2 gene. Some mutations (but not all) of BRCA2 correlated with an increased chance of breast, ovarian, prostate, and pancreatic cancer(s). The mutation that several people in El’s family have causes the BRCA2 protein to be truncated; thereby, causing a reduction in the function of the protein. Why does this all matter? Well, the protein created by the BRCA2 gene is involved in repairing damaged DNA. It binds to and regulates another protein (RAD51) in order to fix breaks found in your DNA. Breaks in DNA happen, which is why your body has a system to repair them. It is only when there are (certain) mutations BRCA2 that result in the cells dividing in an uncontrollable way (this is pretty much the textbook definition of cancer).
Being so far away from El’s family, there really isn’t too much we can do as each member of his family has genetic testing done and then determining what to do with those results. I am so amazed at how his family is coping with the results, especially one person in particular. The level of determination and sustained hope she has is so inspiring, and I admire her for how she (and the rest of his family) are tackling the situation. Therefore, when I discovered there was a BRCA2 cycle path, I knew I had to ride it, no matter the distance (for the record, it is approximately 2 miles long). This cycle path is part of the National Cycle Network in England and extends from the Addenbrooke’s Hospital site (where I work) with a nearby community called Great Shelford. At its unveiling in 2005, it was the 10,000th mile of the National Cycle Network. To represent the 10,257 base pairs of the BRCA2 gene, a series of thermoplastic stripes were heat welded in four different colors and represent the nucleotide sequence of BRCA2. The color scheme is the following: green is adenine (A), red is thymine (T), blue is cytosine (C), and yellow is guanine (G). At each end of the cycle path is a metal structure of the DNA double helix.