Frequently asked questions: BRCA gene mutations

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What are BRCA genes?

Br(east) Ca(ncer) susceptibility genes are tumour suppressor genes. Every cell in a human body contains them. There are two types: BRCA1 and BRCA2. Their main function in the body is to repair DNA, keep other genes healthy, and prevent cancerous changes.

What is a BRCA gene mutation?

A mutation is a change in the gene which makes the gene stop doing its main function therefore no longer keeping abnormal cell growth in check. These changes (mutations) can be inherited or passed on from your parent, grandparents, and great grandparents.

If you have a gene mutation, your risk of cancer increases.

Can anyone have a BRAC gene mutation?

Yes, anyone can have a BRCA gene mutation. Though, they are more commonly found in certain ethnic groups, including Ashkenazi Jews, Afrikaners, French Canadians, and people of Icelandic backgrounds.

What cancers are associated with the BRCA mutation gene?

The most common cancers are breast cancer, ovarian cancer, and prostate cancer but the full list is below.

WOMEN

BRCA1

• Breast
• Ovarian
• Pancreatic

BRCA2

• Breast
• Ovarian
• Pancreatic
• Melanoma

MEN

• BRCA1
• Breast
• Prostate
• Pancreatic

BRCA2

• Breast
• Prostate
• Melanoma
• Pancreatic

If I have a BRCA gene mutation, will I get cancer?

If you have a BRCA gene mutation, your risk of developing cancer does increase. For example, your risk of developing breast cancer will be five times higher and for ovarian cancer three to five times higher.

It’s also important to note that cancers in people with BRCA mutations often present at younger ages. Though, it’s also essential to know that only 5 – 10% of breast cancers and 10 – 15% of ovarian cancers are due to mutations in BRCA1 and BRCA2.

How do I know if I have a BRCA gene mutation?

There are no specific symptoms for BRCA gene mutations. Though, if you have the following risk factors, genetic counselling and testing is advised.

• A personal or family history of breast and/or ovarian cancer.
• Breast cancer diagnosis younger than age 50.
• Ovarian cancer diagnosis at any age.
• A breast cancer diagnosed more than once (in
• the same breast or in both breasts).
• Triple-negative breast cancer tumour histology.
• Multiple cancer diagnoses at any age.
• If you are male and diagnosed with breast cancer
• at any age.
• If you’re of Ashkenazi Jewish or Afrikaner ancestry.
• A close relative with a known BRCA1 or BRCA2 mutation.

How do I go about having a BRCA gene test?

Before you have a genetic test, it’s imperative to first consult with a genetic counsellor. Genetic counsellors provide you and your family with insight into the role of genetics, specifically BRCA1 and BRCA2 mutations, in cancer.

They will explain which specific blood test is needed based on your personal and family history, how the test is done, what the test results mean, and explain your options based on your results. They offer valuable guidance in the medical, emotional, familial, and reproductive implications, and will present ways to prevent or reduce the impact of cancer on you and your family.

If I have a BRCA mutation, will I pass it down to my children? If you have a BRCA mutation, you may pass the mutation to your children. Each child has a 50% chance of inheriting their parents’ BRCA gene mutation. Your siblings may also have inherited the BRCA gene mutation.

Does a negative test result mean I won’t get cancer?

Unfortunately not, a negative result means you don’t have a BRCA mutation and you won’t pass it down to your children. Though, it doesn’t guarantee you won’t get cancer. It means your risk is likely the same as the general population.

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If you’re looking for support or want to know more information, please visit BRCA SA (breastcancersupport.co.za), or follow positivelypredisposed on Instagram.

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