What is the BRCA gene, and why do people keep hearing about it?
BRCA refers to two genes, BRCA1 and BRCA2. These genes help protect the body from certain types of cancer. Everyone has them. Their main job is to repair DNA damage as part of the body’s natural DNA repair process. When they function properly, they help reduce the risk of cancer. BRCA is often mentioned in the media, genetic test results, and clinical settings because inherited changes in these genes can increase the chance of developing cancer, particularly breast and ovarian cancer. However, not all changes are harmful, and even harmful ones do not always lead to cancer. This article explains the BRCA gene in simple terms for anyone navigating new information.
Pro Tip: BRCA isn’t only about surgery. Screening and prevention options vary based on age, lifestyle, and family history.
Understanding the BRCA Gene: Why Patients Keep Hearing About It
People often come across the word “BRCA” in a hospital letter, a news headline, or during family conversations. The term comes from “BReast CAncer,” which naturally causes concern. Public figures like Angelina Jolie have raised awareness, but important clinical context is often missing.
In clinic, I regularly see patients who feel unsettled after hearing or reading about BRCA. It is a short term that can feel overwhelming. However, BRCA is only one part of a much broader picture. Risk depends on several factors including family history, breast symptoms, lifestyle, screening results, hormonal history, and genetic background. The aim is to provide clear explanations that turn uncertainty into understanding.
What Are BRCA1 and BRCA2 – and What Do They Do?
BRCA1 and BRCA2 are tumour suppressor genes. Their role is to detect and repair damaged DNA, which helps prevent cells from becoming cancerous.
Everyone has these genes. For most people, they work silently in the background. If a harmful change (known as a mutation or pathogenic variant) is inherited, the body’s ability to repair DNA is reduced. This can raise the likelihood of developing cancer in breast, ovarian, prostate, and pancreatic cells.
These genes form part of the body’s repair toolkit. They function like a spellchecker for your DNA. The problem only arises if there is an inherited error in the spellchecker itself. BRCA is also part of a wider group of DNA repair genes, such as PALB2.
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BRCA Genes vs BRCA Mutations: Why the Difference Matters
Many people believe that “having the BRCA gene” is the issue. However, everyone has BRCA genes. The concern is whether there is a harmful alteration within one of them.
These changes, known as pathogenic variants or mutations, can increase cancer risk. Some are well understood and clearly linked to disease. Others are harmless. Occasionally, a change is found that researchers have not yet fully classified. These are called variants of uncertain significance (VUS) and are monitored closely.
A mutation increases risk, but it does not mean a person will definitely develop cancer. Results are interpreted by expert teams and always considered alongside the full clinical picture. As more research becomes available, some variants are reclassified.
How BRCA Changes Run in Families
BRCA mutations can be inherited from either parent. When one parent carries a pathogenic BRCA variant, each child has a 50% chance of inheriting it. This is called autosomal dominant inheritance.
Both men and women can carry and pass on BRCA mutations. Family patterns can sometimes be misleading. The variant may pass through male relatives without triggering cancer until it appears in a later generation.
That is why the history of cancers such as prostate and pancreatic cancer in male relatives is important. Certain groups, such as those of Ashkenazi Jewish ancestry, have a higher chance of carrying particular BRCA variants.
Key points about inheritance:
A parent with a BRCA mutation has a 1 in 2 chance of passing it on to each child.
It can be inherited from either the mother or the father.
BRCA mutations affect both men and women.
A lack of family history does not rule it out. Mutations may pass through male relatives unnoticed.
Pro Tip: A BRCA mutation increases risk but doesn’t decide your future. What you do with that information matters more.
What Your BRCA Status Means for Your Breast Health
A harmful BRCA variant can increase the likelihood of developing breast cancer. It may also affect the type of tumour. For example, BRCA1 is more strongly linked with triple-negative breast cancer.
Still, breast health is influenced by many other factors. These include age, hormone exposure, family history, lifestyle, and breast tissue characteristics such as density. A negative BRCA result does not mean there is no risk. It simply means no harmful variant was found in the genes tested.
Your BRCA status can influence your screening plan. Some people may:
Begin breast imaging earlier than usual.
Be offered breast MRI in addition to mammograms.
Have more frequent scans over time.
These plans are created with your consultant and based on your full risk profile.
BRCA and Men’s Health
BRCA is often associated with breast cancer in women, but it also affects men. Men who carry a BRCA mutation may face increased risk of:
Prostate cancer
Pancreatic cancer
Male breast cancer (less common but possible)
Men with a family history of BRCA-related cancers should speak to their GP or a breast specialist to understand whether genetic testing or screening is appropriate.
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How Consultants Use BRCA Information in Breast Clinics
In clinic, BRCA information is used alongside other factors. I begin by discussing your personal and family history, carrying out a clinical examination, and reviewing any imaging such as mammograms or ultrasounds.
If your history suggests a higher genetic risk, we may discuss BRCA testing. If you already have a result, we will go through it together. A pathogenic variant might affect how we plan treatment if cancer is present, or shape surveillance if it is not.
A positive BRCA result is not a decision point. It is the beginning of a conversation. It may lead to:
More frequent or enhanced screening
Considering medication to reduce risk
Exploring preventive surgery, if appropriate
These decisions take time. Patients are encouraged to ask questions, take space to reflect, and return when they are ready.
In most cases, a multidisciplinary team is involved. This includes breast surgeons, oncologists, radiologists, and genetics specialists. At my clinic in Harley Street, all findings are assessed together to provide a balanced and informed plan.
Common Questions and Misconceptions About the BRCA Gene
Do I only have BRCA genes if something is wrong?
No. Everyone has BRCA1 and BRCA2. They are part of normal biology and play a key role in DNA repair.
If I have a BRCA mutation, does that mean I will get cancer?
No. It increases the risk, but many people with mutations never develop cancer.
Does a negative BRCA test mean I’m completely safe?
No. It means no harmful variant was found, but other risk factors could still apply.
Is BRCA only relevant for women?
No. BRCA affects men too. It can increase the risk of prostate, pancreatic, and male breast cancer.
Can my BRCA result change over time?
The test result does not change, but the way we interpret it might. Research continues to refine how variants are classified.
Moving Forward: Using BRCA Knowledge to Support Calm Decisions
Understanding your BRCA status helps support thoughtful planning. It is one piece of your overall breast health profile.
In clinic, we combine your genetic result with examination, imaging, and your medical history. This helps guide decisions about screening, monitoring, or, when appropriate, surgery.
Some people will access BRCA testing through the NHS if they meet the criteria. Others may choose private testing for faster access or broader testing panels. Either way, seeing a consultant breast specialist ensures you receive clear and personalised guidance.
Support is not only clinical. Many people experience emotional responses to genetic information. Counselling services are available to help talk through concerns and provide ongoing support.
Whether seen through the NHS or privately, such as at my practice in Harley Street, your care should feel structured, respectful, and unhurried. BRCA is not the whole story, but understanding it can help you make clear, confident decisions.