Each year nearly 1.7 million women worldwide are diagnosed with breast cancer. Roughly 239,000 are diagnosed with ovarian cancer. Of these women, 5-10% are carriers of a BRCA gene mutation, which is responsible for their cancer.

Not all women with these mutations will develop breast cancer and not all breast cancers are due to these genetic mutations however it’s essential to learn more about breast cancer genes.

  • What are the breast cancer genes?
  • How much does a BRCA gene mutation increase a woman’s risk of breast and ovarian cancer?
  • BRCA1 and BRCA2 in the media
  • Who should be tested for a BRCA gene mutation?
  • How do I find out more about getting tested for a BRCA gene mutation?

What are the breast cancer genes?

Two genes responsible for breast cancer include BRCA1 and BRCA2. These names are abbreviations of the longer terms BReast CAncer susceptibility gene 1 and BReast CAncer susceptibility gene 2.

BRCA1 and BRCA2 are genes that everyone carries however some people have mutated genes that can greatly increase their risk of developing breast and ovarian cancer. The function of these genes, when working correctly is to repair cell damage and keep breast cells growing normally, thereby fulfilling their role as tumour suppressors.

When these genes contain abnormalities that are carried forward genetically, the genes don’t function normally. The damaged cells are not fixed and are more likely to develop in a way that can develop into cancer.

How much does a BRCA gene mutation increase a woman’s risk of breast and ovarian cancer?

A BRCA1 or BRCA2 mutation increases the risk of cancer dramatically. Women have a 12% chance of developing breast cancer and a 1.3% chance of developing ovarian cancer. If a woman inherits a BRCA-1 mutation, her risk increases to 55-65 percent for breast cancer and 39 percent for ovarian cancer.

If a woman inherits a BRCA2 mutation, her risk rises to 45 percent for breast cancer and between 11-17 percent for ovarian cancer. Breast cancers associated with a BRCA gene mutation tend to occur at a much younger age, often before women are advised to get mammograms.

Women who are diagnosed with breast cancer and have an abnormal BRCA1 or BRCA2 gene often have a family history of breast cancer, ovarian cancer, and other cancers.

BRCA1 and BRCA2 in the media

BRCA1 and BRCA2 have been brought to public attention as celebrities including mother and daughter Sharon and Kelly Osborne revealed their positive diagnoses of a BRCA gene mutation.

In 2013, Angelina Jolie brought the BRCA-1 mutation to public attention when she opted to undergo a preventative double mastectomy to remove both of her breasts after she tested positive for BRCA1.

She later underwent surgery to remove her ovaries (oophorectomy) and fallopian tubes (salpingectomy) to reduce her risk of ovarian cancer.

Jolie had a significant family history alongside her BRCA1 gene mutation. She lost her mother, grandmother and aunt to cancer. Her mother was diagnosed with ovarian cancer at 49 and died at 56.

Jolie was told that she had a 87 percent lifetime risk of developing breast cancer and a 50 percent lifetime risk of developing ovarian cancer.

Who should be tested for a BRCA gene mutation?

BRCA1 and BRCA2 gene mutations are relatively rare. The harmful mutations are inherited from either the mother or the father so family history is the best indication of whether the mutation is present.

Doctors look for specific “warning signs” in the family that may indicate a need for testing including:

  • Breast cancer diagnosed before the age of 50 years
  • Cancer in both breasts
  • Both breast and ovarian cancers in either the same woman or the same family
  • Multiple breast cancers
  • Two or more primary types of BRCA1 or BRCA2 related cancers in a single family member
  • Cases of male breast cancer
  • Ashkenazi Jewish ethnicity
  • BRCA gene mutation doctor

How do I find out more about getting tested for a BRCA gene mutation?

  • You can ask your doctor about getting tested for BRCA1 and BRCA2 mutations.
  • Your GP can look at your family history and determine your need to be tested.

Receiving a positive diagnosis for a BRCA gene mutation can be an overwhelming and frightening experience. But when it comes to cancer, knowledge is power. If you know you are BRCA-positive, you can begin to take steps to reduce your risk of breast and ovarian cancer. They can discuss the impact that having the test can have on you and your family members and make the necessary referrals for genetic counselling and testing.

If you would like more information about getting tested you can also contact us here.

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It’s good to know.

Written by Hannah Kingston | Approved by Medical Director Dominic Rowley