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BRCA1 and BRCA2 – Ashkenazi Jewish Mutation Testing - Genetic testing for breast cancer and ovarian cancer

gene brca

Jewish individuals with a personal or family history of breast or ovarian cancer may want to consider BRCA1 and BRCA2 genetic testing to understand their risk of hereditary cancer, and help decide what risk reducing measures to consider.

Note: BreastGene includes comprehensive BRCA1/BRCA2 testing for individuals who do not have Jewish ancestry or who have a high risk of a cancer gene mutation.

What is hereditary breast cancer?

Cancer is unfortunately very common, with 1 in 2 people developing cancer at some point in their lifetime. Breast cancer occurs in 1 in 8 women; with 80% being diagnosed after age 50; while ovarian cancer occurs in about 1 in 75 women. Men can also develop breast cancer although this is rarer, accounting for only 1% of all breast cancer. Most breast cancer occurs by chance however about 5-10% is inherited. When breast cancer is inherited it may be caused by a mutation (fault) in one of the breast/ovarian cancer genes, known as BRCA1 and BRCA2, or in a different breast cancer associated gene. Currently we know that there are at least 9 genes which cause breast cancer.

Jewish cancer genetics

One in 40 people of Ashkenazi Jewish ancestry (2.5%) carry a mutation (fault) in the genes BRCA1 or BRCA2. Mutations in these genes cause an increased risk of breast, ovarian, prostate and male breast cancer. Individuals with BRCA mutations often consider increased cancer screening as well as risk-reducing surgeries to lower their risks.

How do I know if I’m at risk?

In addition, to Jewish ancestry families with BRCA mutations generally show one or more of the following clues:

  • Several close relatives with breast cancer
  • Breast cancer diagnosed before the age of 45
  • "Triple negative" breast cancer
  • Bilateral breast cancer (cancer in both breasts)
  • Ovarian cancer
  • Increased frequencies of other cancers such as prostate and pancreatic cancer
  • Male breast cancer

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How are BRCA mutations inherited?

Our genes come in pairs. This means that we inherit two copies of BRCA1; one from our mother and one from our father. The same is true for the BRCA2 gene. BRCA gene mutations can therefore be inherited from either parent. If a parent has a genetic mutation, there is a 50% chance that it will be passed on to each child.

Genetic testing for BRCA1 and BRCA2 Mutations: 

Genetic testing is performed on a saliva or blood sample and analyses the BRCA1 and BRCA2 genes to identify mutations which are likely to lead to an increased risk of developing cancer. 

Cancer Risks Associated with a BRCA mutation

It is important to remember that not everyone who inherits a BRCA gene mutation will develop cancer and the estimated cancer risks associated with BRCA mutations vary. BRCA1 mutations are estimated to have up to an 85% risk of breast cancer and up to a 60% risk of ovarian cancer. Men with BRCA1 mutations have approximately a 20% risk of prostate cancer. Women with BRCA2 mutations have up to a 90% risk of breast cancer and up to a 30% risk of ovarian cancer. Men with BRCA2 mutations have a 5-10% lifetime risk of developing breast cancer, and approximately a 40% risk of prostate cancer. Individuals with BRCA2 mutations also have an increased risk of pancreatic cancer and possibly other cancers. Occasionally, a baby will inherit two BRCA2 mutations and will therefore have the congenital condition known as Fanconi Anaemia.

What if I am found to have a BRCA mutation?

Women with BRCA gene mutations should have annual breast MRI scans from age 30 and annual mammograms from age 40. It is also important for all women to be ‘breast aware’ which means becoming familiar with how your breasts look and feel and noticing any changes unusual for you. Many women have lumpy breasts, which naturally change depending upon the time in your menstrual cycle and therefore it is best to check yourself at the same time each month (mid-cycle). If you notice a change in your breasts it is important to seek medical advice. Ovarian screening has not been shown to be beneficial and therefore some women may consider risk- reducing surgery.

Preventative medication: Two hormonal medications have been shown to lower the risk of developing breast cancer in BRCA2 carriers as well as women at increased risk of breast cancer, when taken for 5 years. These medications have some side effects and it is important to discuss these with a genetics expert or breast specialist, who will be able to discuss the benefits and side effects in detail.

Risk-reducing surgery: Some women who are found to have a BRCA mutation choose to have risk-reducing surgery to lower their risk of cancer. Surgery to remove the ovaries can be carried out from about 40 years of age, when women have completed their families, and when the risk of ovarian cancer starts to increase. Removing a woman’s ovaries before the menopause, is also known to reduce the risk of breast cancer. If a woman decides to have her ovaries removed before the menopause she should consider taking hormone replacement therapy to help treat the symptoms. Risk-reducing surgery to remove healthy breast tissue (risk-reducing mastectomy) may also be considered by some women. This is a very individual decision and needs careful consideration. If a woman wishes to consider this option, her breast surgeon can provide further information.  

Cancer Treatment: Certain chemotherapy treatments may be tailored on the basis of a BRCA mutation. For example, platinum-based chemotherapy and PARP inhibitors can be beneficial in treating cancer associated with BRCA mutations.

Men with BRCA mutations: Men with BRCA mutations should be breast aware and perform monthly breast self-examination. Annual prostate screening with PSA tests should be arranged.

Our knowledge of cancer genetics is rapidly growing, and the information given summarises this to date. Please keep us informed of any significant changes in your family in the future as this may alter our advice to you. Please do not hesitate to contact us if you have any questions or concerns.

Book an initial 1 hour consultation for only £150 and find out if you are at risk

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Insurance & financial information

Some individuals may be concerned about difficulties obtaining insurance coverage following genetic testing. This does not need to be a concern as the Code on Genetic Testing and Insurance ensures that individuals do not have to disclose cancer predictive test results. More information can be found at

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