What to consider before testing

What is BRCA?

BRCA refers to two genes – BRCA1 and BRCA2- that every person (males and females) has. They are just two of the close to 30,000 genes in almost every cell of our body.

The BRCA genes fall into a category of genes known as ‘tumour suppressor’ genes and they play a vital role in the prevention of cancer.

What if someone has a faulty BRCA gene?

Some people may have faults in one of their BRCA genes. Both men and women can have faulty BRCA genes.

Since BRCA gene faults compromise the gene’s ability to function, these people have an increased risk for developing certain cancer types.

Additionally, both women and men can pass on their faulty BRCA genes to both their daughters and sons. For a couple in which one partner has a faulty BRCA gene, there is a 50% chance with every pregnancy that this will be passed on. This is referred to as dominant inheritance.

I have a faulty BRCA gene – which cancers am I at risk of developing?

Someone with a faulty BRCA gene has a higher risk of developing certain cancer types. The cancers for which someone with a faulty BRCA gene has an elevated risk are often referred to as the ‘BRCA related cancers’.

These are as follows:

I have a faulty BRCA gene – what is my risk for developing BRCA–associated cancers?

As stated, someone with a faulty BRCA gene has a greater risk for developing the BRCA-associated cancers compared to someone who has fully functioning BRCA genes (I.e. the general population). The risks are different for each cancer type and depend on which BRCA gene is faulty.

The tables below show the detailed cancer risks for females and males.  Ranges are given, as the risk to each individual depends on multiple factors.

Female Cancer Risk Over Lifetime (to age 80)
Cancer General Population With BRCA1 gene fault With BRCA2 gene fault
Breast 11.5% 72% (65-79%) 69% (61-77%)
Ovarian 1.5% 44% (36-53%) 17% (11-25%)
Pancreatic 1% Not elevated 2% (1-4%)
Male Cancer Risk Over Lifetime (to age 80)
Cancer General Population With BRCA1 gene fault With BRCA2 gene fault
Breast < 0.1% 0.4% (0.1-1.5%) 4% (2-8%)
Prostate 12.5% Not elevated 27% (21-35%)
Pancreatic 1.0% Not elevated 3% (2-5%)

Sources: Cancerresearchuk.org; UKCGG BRCA1 Germline Pathogenic Variant Carriers Management Guidelines for Healthcare Professionals; UKCGG BRCA2 Germline Pathogenic Variant Carriers Management Guidelines for Healthcare Professionals

As is clear from the table above, the greatest risks are for female breast cancer and ovarian cancer.

  • A women with a BRCA1 or BRCA2 gene fault has approximately a 70% chance of developing breast cancer , more than a 6X increase compared to the general population
  • A women with a BRCA1 gene fault has a 44% chance, a 30X increase compared to the general population
  • A women with a BRCA2 gene fault 17% chance for developing ovarian cancer, a 30X increase compared to the general population

It is important to remember that men are impacted by BRCA gene faults too. Most significantly, the risk for developing prostate cancer is double (to over 25%) for a man with a BRCA2 gene fault.

 

I have a faulty BRCA gene – is there anything I can do to manage or reduce my cancer risks? YES

Someone who is identified as having a faulty BRCA gene is eligible, on the NHS, to access several options that help to manage or reduce their cancer risk.

These options, often referred to as ‘risk management options’, are designed to either:

  • catch the cancers earlier when the prognosis is better
  • reduce the chance of BRCA-associated cancers developing altogether

There are also options for couples in which one partner has a faulty BRCA gene to avoid passing on the gene to their children.

Much more information about these risk management options can be found here

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