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BRCA Mutations and Breast Cancer

BRCA mutations are often discussed in relation to breast cancer and refer to a mutation (alteration) in either of the BRCA1 or BRCA2 genes.

A mutation causes an increased risk of breast and ovarian cancer in families affected. Cancer Research UK states that the lifetime risk of breast cancer in women carrying the BRCA1 or BRCA2 mutation is between 45-90% which is why, if you have a family history of breast cancer, ovarian or prostate cancer, a breast cancer genetic test may be advisable.

It should be noted, however, that BRCA mutations are only responsible for approximately 5-10% of all female breast cancer cases, with typically 1 in 500 people in the general population carrying a mutation. Having the mutation does not necessarily mean you will develop breast cancer or ovarian cancer.

BRCA mutations can be inherited from either parent and passed on to male and female children. If one parent has the mutation, the child has a 50% chance of inheriting the gene regardless of their sex which is why it is important for men to realised they too are at risk.

Men have up to a 10% risk of male breast cancer and an increased risk of prostate cancer in they carry a mutation in BRCA2.

Diagram showing how the BRCA mutation can be inherited

Families with the BRCA Mutation may experience one or more of the following:

  • Family members where breast cancer was diagnosed before the age of 50
  • Several close relatives (e.g. sister, mother, brother) with breast cancer
  • Ovarian cancer in at least one member of the family
  • Members of the family with breast cancer in both breasts (bilateral breast cancer)
  • Incidence of male breast cancer
  • Members of the family with both breast and ovarian cancer
  • Ashkenazi Jewish ancestry
  • Increased incidence of other cancers such as prostate and pancreatic cancer

How is BRCA mutation testing done?

A blood or saliva sample is taken and used to identify whether you carry the BRCA1 or BRCA2 gene mutation. You are advised to undergo genetic counselling beforehand, where your risk and family history will be established and the implications of the results discussed and explained.

If you are of Ashkenazi Jewish heritage, there are three specific genetic mutations that can be tested that are most commonly found in people from this background.

Full BRCA testing can also be undertaken if required in the unlikely event that initial testing of the three specific mutations does not identify any risk.

What if I have a BRCA Mutation?

If your tests reveal you do carry the BRCA1 or BRCA2 gene mutation, it doesn’t necessarily mean you will develop breast or ovarian cancer. However, you will be at an increased risk and a number of measures can be put in place to help reduce this risk that may include:

  • Surgery
  • Drug treatment
  • More regular examinations and screening

If you are concerned about a family history of breast cancer, ovarian cancer or prostate cancer and feel you may be at increased risk of a BRCA mutation, please contact us today to discuss your options or see more information about BRCA genetic testing. 

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