Simplifying the tricky ins and outs of inheriting the faulty breast cancer gene
Some people might know of it as the ‘Angelina Jolie gene’ – after the star went public with her diagnosis – but the faulty breast cancer gene (BRCA) remains largely unknown and misunderstood.
Perhaps due to its name, mutations and variants of BRCA are primarily associated with increased cancer risks in women. However, as a recent Emmerdale storyline has helped to highlight, the complicated genetic variant also has possible cancerous effects in men.
Here, with the help of Cancer Research UK and Breast Cancer Now, we explain what it is and what inheriting it might mean for you.
What is BRCA?
Every human, male and female, possesses the ‘BReast CAncer’ gene (BRCA), also referred to as BRCA1 and BRCA2. These genes are vital within our DNA, stop our cells from dividing and growing out of control and are often referred to as ‘tumour suppressors’. However, these genes can be faulty or mutate, therefore encouraging our cells to grow rapidly, which can lead to cancer developing in those that are positive for the mutation.
As we inherit DNA, the faulty version of the gene is passed down from our parents from birth. A child conceived from a BRCA-positive parent, male or female, has a 50% chance of receiving the same mutated gene.
Gene types
A positive BRCA mutation diagnosis increases the risk of more than one cancer type in both men and women. These increased risks are associated with breast, ovarian, prostate and pancreatic cancers across both genders. Cancer Research UK reports that women who are confirmed to have the faulty BRCA1 or BRCA2 gene have a 70% chance of developing breast cancer by the age of 80. This compares to the lifetime risk of around 15% in the general population.
It’s important to note that most cancers are not linked to inherited faulty genes and those with the faulty BRCA genes do not always develop cancer.
Specialist cancer nurse, Caroline Geraghty at Cancer Research UK says, ‘Most cancers are not associated with mutated genes and only around five to 10% are linked to a faulty gene.’
The diagnosis
While the faulty BRCA1 and BRCA2 genes might be hard to wrap your head around, predictive genetics testing for the diagnosis is straightforward via a simple blood test. To be eligible for genetics testing via the NHS, there needs to be a strong history of cancer within your family, or the faulty gene must already have been identified in a relative.
Private tests outside of the NHS are also available if you do not meet the criteria, with tests starting from £1000 per person. Unlike a standard blood test, the turnaround time for results is lengthy, usually with a six to eight week wait.
Knowledge is power
Following a positive diagnosis for either variant, patients are fully supported via knowledgeable genetics specialists on next steps and possible screening options that are available, depending on the cancer risk.
The NHS currently offers those over 50 low-dose X-rays – otherwise known as mammograms – that typically take place every three years. Following a faulty BRCA diagnosis, breast screening can begin at the age of 35, and those diagnosed under this age are advised to look out for tell-tale signs of breast cancer including, but not limited to, lumps, dimpling and discharge.
Speaking on BRCA testing, Baroness Delyth Morgan, Chief Executive of Breast Cancer Now says, ‘Crucially, identifying more people at increased risk of breast cancer due to the BRCA gene alterations will help empower them with the knowledge and opportunity to take action to reduce their risk of developing the disease and increase the chances of an early diagnosis.’
Reduce your risk
While faulty BRCA genes do not always result in cancer, some women with BRCA1 or 2 opt to have risk-reducing preventative surgery. This is a personal choice and will be discussed thoroughly with healthcare professionals.
Preventative risk-reducing breast surgery (bilateral mastectomy), followed by reconstruction, can lower the breast cancer risk by 95% by removing most of the breast tissue.