Natalie Overton
Like every other aspect of her life, they’ve been massively broadcasted. And in her case, they might have proven deadly.
Due to her mutated BRCA 1 gene, two years ago Angelina Jolie Pitt underwent a preventative double mastectomy. This year, she says in her Op-Ed piece in the New York Times, she underwent further surgery to remove her ovaries and fallopian tubes, which sent her straight into forced menopause and a bout of hormone therapy. This Hollywood icon committed to these seemingly drastic surgeries due to a simple but potentially lethal mutation on her X chromosome, specifically in the BRCA1 and BRCA2 genes. These gene mutations are also capable of affecting the pancreas and prostate.
The Genetics Home Reference identifies BRCA1 and BRCA2 (an acronym for BReast CAncer 1 and 2, early onset) as tumor suppressor genes—collectively referred to as the BRCA genes. They produce tumor suppressor proteins that monitor cell growth, and specifically maintain DNA strands. If a DNA strand is broken or mutated, these proteins will fix it. A mutated BRCA gene will provide inaccurate instructions for the production of maintenance proteins, which could lead to uncontrolled cell growth, or a tumour. The result? A potentially cancerous growth on Angelina Jolie’s ovaries.
Cancer is a risky business, and the risks increase exponentially when BRCA mutations occur. According to the National Cancer Institute, a mutated BRCA1 gene increases the risk of breast cancer by 43-53%, while a mutated BRCA2 gene increases the risk of breast cancer by 33%. The risk of developing ovarian cancer is increased by 38% with a BRCA1 mutation, and by 10-16% with a BRCA2 mutation. Note that there have been no long-term population studies comparing the risk of carriers (those who express the mutated gene) with non-carriers.
Additionally, there is a higher prevalence of mutated BRCA genes in Ashkenazi Jews, along with Norwegian, Dutch, and Icelandic people.
Current clinical trials focus on screening and treating BRCA mutations, as well as its epidemiology and biomarkers. Interesting research has involved the consequences of faulty BRCA1 function—one of its more specific jobs is to randomly inactivate one of the X-chromosomes. If the BRCA1 gene is mutated and, in turn, does not inactivate one of these copies, the female will have twice the amount of X-chromosome gene products as she should. Gene products are either RNA (ribonucleic acid) or proteins that, among other things, regulate oncogenes.
Oncogenes, when overly expressed or mutated, allow cells that were otherwise scheduled for death to survive and proliferate. This is cancer.
The mutated gene is hereditary, so it is recommended to consider medical evaluation if your family has a history of breast, prostate, fallopian, pancreatic or ovarian cancer. However, the National Cancer Institute warns, “Professional societies do not recommend that children, even those with a family history suggestive of a harmful BRCA1 or BRCA2 mutation, undergo genetic testing for BRCA1 or BRCA2. This is because no risk-reduction strategies exist for children, and children’s risks of developing a cancer type associated with a BRCA1 or BRCA2 mutation are extremely low.”
All this buzz about miss Jolie’s ovaries has been centered around the intriguing and groundbreaking discoveries about the BRCA1 and BRCA2 genes, which could foretell great advances in cancer research and save many lives—including yours, perhaps.