BRCA 1/BRCA2 Ashkenazi Jewish Founder Variant Testing

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.

Individuals with Jewish ancestry can be tested for the three common BRCA1 and BRCA2 pathogenic variants which are found in the Jewish population.

  • National network of registered genetic counsellors
  • Consultations by telephone or face-to-face
  • Genetic counselling given before and after all genetic tests
  • Genetic testing may influence your surgical treatment, choice of chemotherapy and future cancer prevention
  • Expert counsellors explain the testing process and provide you with all the information to help you make the choice that's right for you

 

630

* includes a one-hour phone consultation with a genetic counsellor.

Why should I have genetic testing?

Genetic testing offers you a safe and accurate way of finding out if you are at risk of cancer. We offer a personalised service with pre and post test counselling ensuring you are fully supported every step of the way through the process of genetic testing.

Why should I have genetic testing?
 

Frequently Asked Questions

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 7 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 pathogenic variant (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 nine genes which cause breast cancer.

Jewish cancer genetics

One in 40 people of Ashkenazi Jewish ancestry (2.5%) carry a pathogenic variant (fault) in the genes BRCA1 or BRCA2. Pathogenic variants in these genes cause an increased risk of breast, ovarian, prostate and male breast cancer. Individuals with pathogenic BRCA variants 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 pathogenic variants 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
How are BRCA pathogenic variants 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 pathogenic variants can therefore be inherited from either parent. If a parent has a genetic pathogenic variant, there is a 50% chance that it will be passed on to each child.

Genetic testing for BRCA1 and BRCA2 Ashkenazi Founder variants

Genetic testing is performed on a blood sample and analyses the BRCA1 and BRCA2 genes to look for the three common Ashkenazi Founder variants which are likely to lead to an increased risk of developing cancer.

Cancer risks associated with a pathogenic BRCA variant

It is important to remember that not everyone who inherits a pathogenic BRCA variant will develop cancer and the estimated cancer risks associated with pathogenic BRCA variants vary. Pathogenic BRCA1 variants are estimated to have up to an 85% risk of breast cancer and up to a 60% risk of ovarian cancer. Men with pathogenic BRCA1 variants have approximately a 20% risk of prostate cancer.

Women with pathogenic BRCA2 variants have up to a 90% risk of breast cancer and up to a 30% risk of ovarian cancer. Men with pathogenic BRCA2 variants have a 5-10% lifetime risk of developing breast cancer, and approximately a 40% risk of prostate cancer. Individuals with pathogenic BRCA2 variants also have an increased risk of pancreatic cancer and possibly other cancers. Occasionally, a baby will inherit two pathogenic BRCA2 variants and will therefore have the congenital condition known as Fanconi Anaemia.

What if I am found to have a pathogenic BRCA variant?

Women with pathogenic BRCA variants 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.

Risk-reducing 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 five 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 pathogenic variant 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.  

Men with pathogenic BRCA variants

Men with pathogenic BRCA variants should be breast aware. Annual prostate screening with PSA tests should be arranged from the age of 40 to 69 with a cut off of 3ng/ml indicating a biopsy.

Vicki Kiesel, Consultant Genetic Counsellor

For those with a family history of cancer, genetic testing is an invaluable tool, helping them to understand their risk of developing cancer. Genetic testing can help to reassure those at low risk while enabling individuals at high risk to make proactive decisions to lower their chance of cancer and increase the likelihood of early detection.

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