When we talk about BRCA today, genetic testing can sound almost routine, but the journey to understanding these genes has been remarkable. In this article, I look back at how BRCA1 and BRCA2 were discovered, how genetic testing has developed from those early breakthroughs to the testing available today, and what we now understand about inherited cancer risk. I also explore the statistics for women who inherit a BRCA mutation, including the increased risks of breast and ovarian cancer, and the implications for men, including male breast, prostate and pancreatic cancer. Behind every percentage is a person and a family, which is why understanding our genetic risk, and how far the science has come matters so much.
Breast Cancer: From the 1980s to Today
The outlook for breast cancer has changed dramatically over the past four decades. Although more people are diagnosed today, survival rates have improved significantly thanks to earlier detection and major advances in treatment
Why survival has improved
- Earlier diagnosis through breast screening.
- Greater public awareness of symptoms.
- More accurate imaging and pathology.
- Improved surgical techniques.
- Targeted therapies and hormone treatments.
- Better chemotherapy and radiotherapy.
- Genetic testing, including BRCA testing, to guide treatment and prevention.
Key Message
While breast cancer remains the most common cancer in women, the chances of surviving it have improved enormously since the 1980s. Today, many people diagnosed with early-stage breast cancer can expect excellent outcomes thanks to earlier detection and advances in personalised care.
Facts About the BRCA Gene
The risk of breast cancer and ovarian cancer significantly increases with people who inherit a harmful change in BRCA1 and BRCA2
Everyone has BRCA1 and BRCA2 genes, which act as tumour suppressors by repairing damaged DNA in cells. It is a mutation within the gene which we inherit. That is why when researchers first discovered it, it was so hard to find - like finding a needle in a haystack- unless comparing healthy genes to a living relative who has cancer and a gene carrier.
What Are BRCA Genes?
• Normal function: They produce proteins that fix broken DNA and stop cells from growing out of control.
• Shared by everyone: Both men and women have two copies of each BRCA gene, inherited from each
parent.
• Not a disease: The genes themselves do not cause cancer; a harmful mutation or change in the gene is
what raises risk
Risks of BRCA Mutations
Statistics from The Breast Cancer Research Foundation
• Breast cancer: More than 60% of women who inherit a harmful change in BRCA1 or BRCA2 will develop breast cancer in their lifetime versus 13% in the general population.
• Of those, 30 to 40% with BRCA1 and 25% with BRCA2 will develop recurrence in the opposite breast within 20 years, compared with 8% of the general population.
• The stats are much lower in men - 0.2 - 1.2% of men who inherit the harmful BRCA1 will develop breast cancer by age 70 years compared to 0.1% of the general population.
People who inherit the BRCA gene have a higher lifetime risk of ovarian cancer.
- 39 - 58% of women who inherit the harmful change in BRCA1 and 13 - 29% of BRCA2 will develop ovarian cancer, compared to 1.1% of the general population
Finding BRCA: How One Scientific Discovery Changed Families Forever
1990 - Mary Claire-King proved there was a link with Breast Cancer to Chromosome 17 and she called it BRCA1
1994 - A team of researchers officially cloned and identified the exact sequence of BRCA1
1995 - A separate team discovered Brca2
1996 - The 1st test became available
Late 90s - The test was offered to high risk families.
2013 - Testing became much cheaper and available.
Today the test is offered according to The National Risk Guidelines.
🧪 SCIENCE SAYS…
Our understanding of hereditary breast and ovarian cancer has changed dramatically over the past few decades.
In the early 1990s, genetic science was still developing. BRCA1 was identified in 1994 and BRCA2 followed in 1995. For families already being devastated by breast and ovarian cancer, however, answers were not always readily available. Genetic testing was far more limited than it is today, and doctors often had to rely heavily on patterns of cancer within a family when assessing someone's risk.
Today, genetic testing can identify harmful variants in BRCA1 and BRCA2, helping people understand their inherited cancer risk and giving them the opportunity to discuss increased screening, medication or risk-reducing surgery with specialist teams.
What can now begin with a blood or saliva sample represents decades of scientific progress, and for some families, that progress came painfully late.
❤️ JANE SAYS…
For my family, the history of BRCA isn't simply a scientific timeline. It is our timeline.
My sister had already died in the early 1988, when genetic testing was still being researched. With our family history, the genetics team could advise me that I was very likely to carry the inherited mutation, but at that stage they could not give me the kind of straightforward genetic answer that families can often receive today.
I was referred for a consultation to discuss preventative breast surgery.
I said no.
At the time, I was being asked to consider removing healthy breasts because of something that might happen in the future. I wasn't ready to make that decision.
Then came 2011.
Within the space of just one month, my two sisters and I were all diagnosed with cancer.
One of those sisters subsequently died.
I underwent a double mastectomy, and during that surgery I briefly regained consciousness before the operation had been completed: an experience that became another defining moment in my life.
Since then, my remaining sister has also developed ovarian cancer. Thankfully, she is now in remission.
So when I look at how far BRCA science has travelled: from trying to piece together patterns in families like mine to today's sophisticated genetic testing, I don't just see medical progress.
I see my sisters.
I see the decisions we had to make with the information available to us at the time.
And I think about families today who can receive answers that simply weren't available to us in the same way all those years ago.
From a needle in a haystack to a simple blood test, the science has changed enormously. My family's story shows why that progress matters.
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