Blogs by Frank P Ryan
Is Angelina Jolie's BRCA gene a
6/26/2015 10:05:09 AM
Angelina Jolie was brave and helpful to other women to tell the world that she was predisposed to breast cancer because she had the BRCA1 gene.
BRCA1 is the gene that caused the admirable Angelina Jolie to undergo mastectomy and, maybe also ovariectomy.
Is BRCA1 a bad gene then?
In fact it is a very large and exceedingly beneficial gene on chromosome 17. Mutations are mistakes in copying DNA during cell division. Damage to DNA arises through mutations as we get older and tissue cells have undergone a great many replications. BRCA1 produces a protein that repairs damaged DNA - or it can't repair it, kills the cells containing the mutations. The problem arises when BRCA1 itself is damaged by mutation, say in germ cells before ever the affected individual is born. These germ cell mutations can then be inherited down through the family pedigree. The problem then is the damaged BRCA1 gene can't do its job - so that mutated cells are not corrected. That's why the risk increases with time.
What can we do about it?
Geneticists would advise a family affected by BRCA1 mutation of the risks over time. The decision to take action must always be the wishes of the patient.
Surgery at a relatively early adult age tends to be the remedy of choice at present. But there are other actions that can be taken that will remove the risk from future generations of the family.
Pre-implantation genetic diagnosis can be offered to the family, which involves testing embryos before re-implantation in the womb, thereby removing the risk from both the embryos and future generations descending from resulting children.
The irony in such a situation is that people, such as Angelina, who have inherited a faulty BRCA1 gene have a normal matching gene. But the BRCA1 gene is a dominant mutation and it takes over. This means that if we had a means of silencing the faulty gene in people who carried it, the normal gene would take over and the risk of breast cancer might be abated. What's more, we are now coming to realise that damage to BRCA1 may also give rise to increased risk of other cancers, including ovarian cancer in women and prostate cancer in men, so the same understanding applies.
In future epigenetic silencing of the mutated gene may become possible, for example through a mechanism known as RNAi. Every protein-coding gene has a matching RNAi - a small gene coding not for a protein but a small molecule of RNA, which is capable of silencing the mutated gene. We're not quite there yet, but a great deal of research is taking place along these lines at present.
I explain DNA, genes, chromosomes, epigenetics, RNAi and many other aspects of your human genome in simple easy to grasp terms in my book, The Mysterious World of the Human Genome.
Good luck and good health!
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