BRCA

Pathogenic variants in the BRCA1 and BRCA2 genes can increase a person’s risk of certain cancers, particularly breast, ovarian, prostate and pancreatic cancers. Carrying a pathogenic BRCA variant does not mean that you have cancer, or will definitely develop it. Genetic testing can identify people who carry a variant, allowing them to discuss additional cancer surveillance and risk-reducing options that may be appropriate for their individual circumstances.

Those with Jewish ancestry are significantly more likely to be a BRCA carrier than the general UK population.

Testing via NHS → Testing via Jnetics → I have a BRCA mutation →

BRCA is a big topic.

You probably have some big questions.

What is BRCA?

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What is Jewish about BRCA?

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Why should I test?

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Which cancers are associated with BRCA1 and BRCA2 ?

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Cancer in my family

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A BRCA variant has been identified in my family

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Is BRCA testing right for me?

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Which BRCA testing route is right for me?

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What results might I receive?

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Managing your cancer risk

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Passing BRCA onto children

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BRCA is derived from ‘BReast CAncer’. BRCA1 and BRCA2 were given these names because they were first identified through research into inherited breast cancer.

The genes do not cause cancer. Their usual function helps cells repair damaged DNA and protects against cancer. Certain pathogenic variants can prevent the genes from working properly, increasing the risk of breast, ovarian, prostate and pancreatic cancer.

No. People of all sexes and genders have BRCA1 and BRCA2 genes. People normally have two copies of each gene, with one copy inherited from each biological parent.

Anyone can carry a pathogenic variant in BRCA1 or BRCA2 and pass it on to biological children. The associated cancer risks and management options depend on factors including the gene involved, a person’s anatomy, age, medical history, hormone treatment and any previous surgery.

Yes. A pathogenic BRCA variant can be inherited from either biological parent. A person who carries a variant has the same 1 in 2 chance of passing it on, regardless of whether they are the child’s mother or father.

Yes. Eligibility for testing is not determined by sex or gender.

If a pathogenic variant is identified, your risk-management plan should reflect the organs and breast tissue you have, any gender-affirming surgery, hormone treatment, age and medical history. A clinical genetics specialist can provide personalised advice.

No. Pathogenic variants in BRCA1 and BRCA2 occure in people from all ethnic backgrounds. However, some variants are more common among people of Jewish ancestry because of population history and founder effects.

Current estimates suggest that a pathogenic BRCA variant is present in approximately:

  • 1 in 40 Ashkenazi Jewish people;
  • 1 in 140 Sephardi Jewish people;
  • 1 in 250 people in the general UK population.

These are population estimates and do not predict whether a particular person carries a variant.

Yes. This programme is open to eligible people from all Jewish backgrounds, including Ashkenazi, Sephardi, Mizrahi and mixed Jewish ancestry.

There is less published prevalence data for some Jewish populations, but pathogenic BRCA variants are found across Jewish communities.

No. Ancestry-based testing is intended to identify people who may carry a pathogenic variant but have no significant family history of cancer.

Research supporting the NHS programme found that family history-based testing criteria could miss up to 60% of Jewish people carrying a pathogenic BRCA variant. Families may be small, relatives may not have lived to an age at which cancer developed, or a variant may have been inherited through people who did not develop cancer.

If you have had a relevant cancer, have a significant family history of cancer, or know that a pathogenic variant has already been identified in your family, an NHS clinical genetics pathway may be more appropriate.

Speak to your GP or treating cancer team about referral to an NHS clinical genetics service. They can assess your personal and family history and may offer testing for a wider range of cancer-predisposition genes.

Where possible, testing may begin with a relative who has had cancer, as this can provide the most informative result for the family.

If you are unsure which route is most appropriate, please contact us before registering. Our independent genetic counsellor can help you understand your options.

There is no single right time. Factors you may wish to consider include:

  • Whether you feel emotionally ready to receive the result;
  • Your age and when screening or risk-reducing options might begin;
  • Family planning;
  • Pregnancy or caring for a new baby;
  • Your personal or family history of cancer
  • How you might communicate the result to relatives.

You do not need to make the decision alone. An independent genetic counsellor can help you consider the possible advantages and disadvantages without telling you what to choose.

Genetic testing should not replace medical assessment. If you have symptoms that concern you, speak to your GP rather than waiting for a genetic test.

This test analyses the BRCA1 and BRCA2 genes. It is not limited to the pathogenic variants most commonly found in people of Ashkenazi Jewish ancestry.

The test is designed to identify different types of genetic change, including:

  • Single-letter changes in the DNA;
  • Small insertion or deletions;
  • Larger deletions or duplications affecting part of, or all of, a gene.

It does not analyse other cancer-predisposition genes. If your personal or family history suggests that a broader genetic test may be appropriate, the genetic counsellor may recommend referral to an NHS clinical genetics service instead.

Only variants classified as pathogenic or likely pathogenic will be reported through this pathway. Variants of uncertain significance will not be reported.

As with every genetic test, there are technical limitations, and no test can identify every possible genetic change. More detailed information about the regions covered and the test’s limitations is available from Jnetics or Nonacus Clinical Services.

The subsidised fee for the service is £295. Payment is made online as part of the registration process.

The fee covers:

  • The saliva collection kit and postage;
  • Laboratory analysis of BRCA1 and BRCA2;
  • Clinical review of your result;
  • Access to the independent genetic counsellor;
  • Communication of your result;
  • Advice about appropriate next steps.

There should be no additional charge for genetic counselling provided as part of this pathway.

Yes. Taking part is voluntary, and you can change your mind.

Please contact Jnetics as soon as possible if you wish to cancel. What can be stopped and whether a refund can be provided will depend on how far your test has progressed. For example, it may not be possible to stop the process or provide a full refund once your kit has been dispatched, clinical review has taken place, or laboratory analysis has begun.

Once a clinical result has been produced, the laboratory and relevant healthcare professionals may be required to retain the report as part of the clinical record, even if you later withdraw.

Full details are available in our cancellation and refund policy.

The genetic counsellor will review the information you provide to assess whether this BRCA1 and BRCA2 testing pathway is suitable.

If another route would be more appropriate, for example, because of your personal history of cancer, a significant family history, or a known pathogenic variant in your family, the counsellor may recommend that you speak to your GP or treating medical team about an NHS clinical genetics referral.

Jnetics will explain what happens next and signpost you to the appropriate service. Any refund will be made in accordance with our cancellation and refund policy.

Being redirected does not mean that you cannot have genetic testing. It means that a different test or clinical pathway may provide more appropriate information and support.

No. Pathogenic variants in BRCA1 and BRCA2 occure in people from all ethnic backgrounds. However, some variants are more common among people of Jewish ancestry because of population history and founder effects.

Current estimates suggest that a pathogenic BRCA variant is present in approximately:

  • 1 in 40 Ashkenazi Jewish people;
  • 1 in 140 Sephardi Jewish people;
  • 1 in 250 people in the general UK population.

These are population estimates and do not predict whether a particular person carries a variant.

Yes. This programme is open to eligible people from all Jewish backgrounds, including Ashkenazi, Sephardi, Mizrahi and mixed Jewish ancestry.

There is less published prevalence data for some Jewish populations, but pathogenic BRCA variants are found across Jewish communities.

No. Ancestry-based testing is intended to identify people who may carry a pathogenic variant but have no significant family history of cancer.

Research supporting the NHS programme found that family history-based testing criteria could miss up to 60% of Jewish people carrying a pathogenic BRCA variant. Families may be small, relatives may not have lived to an age at which cancer developed, or a variant may have been inherited through people who did not develop cancer.

If you have had a relevant cancer, have a significant family history of cancer, or know that a pathogenic variant has already been identified in your family, an NHS clinical genetics pathway may be more appropriate.

Speak to your GP or treating cancer team about referral to an NHS clinical genetics service. They can assess your personal and family history and may offer testing for a wider range of cancer-predisposition genes.

Where possible, testing may begin with a relative who has had cancer, as this can provide the most informative result for the family.

If you are unsure which route is most appropriate, please contact us before registering. Our independent genetic counsellor can help you understand your options.

BRCA in the Jewish Population

Certain pathogenic variants in BRCA1 and BRCA2 are more common in some Jewish populations than in the wider UK population. This is partly because of the founder effect, where a genetic variant present in a relatively small ancestral population becomes more common over successive generations.

It is estimated that a BRCA1 or BRCA2 pathogenic variant is carried by approximately:

1/40

people of Ashkenazi Jewish ancestry.

1/140

people of Sephardi Jewish ancestry.

1/250

people in the wider UK population.

These are population estimates and cannot predict an individual person’s likelihood of carrying a variant. Jewish communities are diverse, and prevalence may vary between different groups. People from any Jewish background, including Mizrahi Jewish communities, can carry a BRCA pathogenic variant.

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What is Jewish about BRCA?

Throughout history, Jewish populations experienced migration, geographical separation, persecution, and periods when populations became much smaller. At different times, some communities were established or rebuilt by a relatively small number of ancestors. This can create a founder effect, where particular genetic variants become more common over generations. Historically, many Jewish communities were also endogamous, meaning people tended to marry and have children within the community.

These processes occur in many populations. In Jewish communities, they have made certain inherited conditions and pathogenic variants in BRCA1 and BRCA2 more common. Frequencies vary between Ashkenazi, Sephardi and Mizrahi communities, and most Jewish people do not carry a pathogenic BRCA variant.

Why should I test?

BRCA genetic testing can identify whether you carry a pathogenic variant in BRCA1 or BRCA2. This information may help you and your healthcare team make informed decisions about your future health.

If a pathogenic variant is identified, you may be offered additional cancer surveillance or be able to consider options that reduce your risk. The options available will depend on the gene involved, your age, anatomy, medical history and individual circumstances. Surveillance aims to detect cancer at an earlier stage, when treatment may be more effective, while risk-reducing interventions can lower, but not completely remove the chance of developing cancer.

If you have, or later develop cancer, knowing that you carry a pathogenic BRCA variant may also help your healthcare team select the most appropriate treatment. Your result may provide useful information for biological relatives and for future family planning.

Family History

A pattern of breast, ovarian, pancreatic or prostate cancer on either side of your family may suggest an inherited cancer predisposition.

Indicators can include:

  • Several relatives with related cancers;
  • Cancer diagnosed at a younger age than usual;
  • Breast cancer in a male relative;
  • One person developing more than one related cancer.

If you have a personal or significant family history of cancer, please tell us and speak to your GP. Referral to an NHS clinical genetics or family history service may be more appropriate. These services can assess your wider family history and may offer testing for a broader range of cancer-predisposition genes if NHS eligibility criteria are met.

Where possible, genetic testing may begin with a relative who has had cancer, as this can provide the most informative result for the family.

Not having a family history of cancer does not rule out a pathogenic BRCA variant. Families may be small, relatives may not have lived to an age at which cancer developed, or a variant may have been passed through relatives who did not develop cancer.

Is BRCA testing right for me?

BRCA testing is a personal choice. Being eligible for any programme does not mean that you have to take a test, or that testing will be the right decision for everyone.

Before deciding whether to have BRCA testing, you may find it helpful to think about:

  • Whether you want to know if you have an increased inherited risk of certain cancers;
  • How you might feel if a pathogenic variant were identified;
  • Whether you would want to consider additional screening or options to reduce your risk;
  • How the result could affect or be relevant to your biological relatives;
  • Whether you feel ready to receive information that may affect decisions about your health and future.

A BRCA test cannot tell you whether you will definitely develop cancer. If a pathogenic variant is identified, it means your risk of certain cancers is increased. If no pathogenic variant is identified, this does not remove your general risk of developing cancer.

You do not have to proceed with testing simply because you are eligible. The decision should be the one that feels right for you.

Passing BRCA onto children

Pathogenic variants in BRCA1 and BRCA2 follow an autosomal dominant inheritance pattern. This means that a person who carries a pathogenic variant has a 1 in 2 (50%) chance of passing it on to each biological child, regardless of the child's sex. The chance is the same for every pregnancy, and the variant can be inherited from either biological parent.

Family Planning Options

Some people may consider pre-implantation genetic testing for monogenic disorders (PGT-M).
PGT-M is carried out a part of IVF. Embryos are tested for the specific BRCA variant found in the family, and embryos predicted not to carry the variant may be selected for transfer.

PGT-M can reduce the chance of passing on the known variant, but it is not 100% accurate. It also cannot guarantee that an embryo will be suitable for transfer, that treatment will result in a pregnancy, or that a child will be free from all health risks.

PGT-M may be funded by the NHS if eligibility criteria are met. Funding arrangements and criteria vary across the UK.

There is no obligation to use IVF or genetic testing to have a family. This is a deeply personal decision, and there is no single choice that is right for everyone. Our genetic counsellor can provide information and support without directing your decision. Alternatively, your GP can refer you to an NHS clinical genetics or fertility service.

If a child inherits a pathogenic BRCA variant, they can usually decide whether to have predictive genetic testing once they are an adult and discuss the cancer-risk management available at that time.

Managing your cancer risk

If a pathogenic BRCA1 or BRCA2 variant is identified, you will be referred to an NHS clinical genetics service. Your clinical team will help you develop a personalised risk-management plan based on your gene variant, age, family and medical history, the organs and tissue you have, and any previous surgery or hormone treatment.

Most research and NHS guidance use male and female categories. If you are transgender or non-binary, your clinical team can advise how your anatomy, hormone treatment and any gender-affirming surgeries may affect your individual risks and screening options.

Screening and surgery can help manage cancer risk, but no option can prevent or detect every cancer.

Screening & Surveillance

People with a pathogenic BRCA1 or BRCA2 variant who meet the relevant criteria can be referred for very high-risk breast screening.

In England, the current programme generally provides:

  • Ages 25-39: annual breast MRI
  • Ages 40-50: annual breast MRI and mammogram
  • Ages 51-70: annual mammogram, with MRI where clinically appropriate

Your exact screening plan may differ according to your breast density, previous surgery and medical history. Arrangements may also differ across the UK.

Breast screening aims to detect cancer earlier, when treatment may be more effective. It does not prevent breast cancer and may not detect every cancer. Contact your GP if you notice a new breast or chest change, even if you are receiving regular screening.

People with a prostate who carry a pathogenic BRCA2 variant have an increased risk of prostate cancer, including cancers that may develop at a younger age or behave more aggressively.

In England, a targeted NHS screening programme is expected to begin rolling out in 2027. It will offer a PSA blood test every two years to people aged 45-61 who have both a pathogenic BRCA2 variant and a relevant family history of breast, ovarian, pancreatic or prostate cancer.

Before the programme becomes available, or if you do not meet its criteria, you can discuss PSA testing with your GP or genetics specialist. People with a BRCA2 variant are advised to discuss their prostate cancer risk from the age of 40.

A PSA test cannot diagnose prostate cancer on its own. A raised result can have non-cancerous causes, while a normal result does not completely rule out cancer. Your clinician should explain its possible benefits and limitations before you decide whether to have the test.

There is no national ovarian cancer screening programme, and surveillance has not been shown to reduce deaths from ovarian cancer. Cervical screening does not test for ovarian cancer.

If you choose to delay or not have risk-reducing surgery, a specialist service may consider surveillance using a CA125 blood test every four months, with the results interpreted using a risk algorithm. Availability varies, and surveillance is not a substitute for risk-reducing surgery. It can produce false-positive or false-negative results.

Possible symptoms of ovarian cancer include:

  • Persistent bloating or a swollen abdomen;
  • Pelvic or abdominal pain;
  • Loss of appetite or feeling full quickly;
  • Needing to urinate more urgently or frequently.

These symptoms are common and are often caused by other conditions. However, speak to your GP if they are new, persistent, frequent or unusual for you.

There is no national pancreatic screening programme. A pathogenic BRCA variant alone does not usually lead to routine surveillance. However, specialist surveillance using MRI, MRCP or endoscopic ultrasound may be considered for some people who also have a close family history of pancreatic cancer, sometimes within a research programme.

Possible symptoms include:

  • Yellowing of the skin or whites of the eyes;
  • Itchy skin;
  • Dark urine or paler stools;
  • Unexplained loss of appetite or weight;
  • Persistent tiredness or lack of energy;
  • Pain in the upper abdomen or back;
  • Persistent changes to digestion or bowel habits.

These symptoms do not necessarily mean that you have cancer, but they should be checked if they are new, worsening or persistent. Seek urgent advice from your GP or NHS 111 if your skin or the whites of your eyes become yellow.

Risk-Reducing Surgeries

Risk-reducing surgery removes as much at-risk tissue as possible. It can substantially reduce cancer risk but cannot remove it completely. Deciding whether and when to have surgery is deeply personal. You should be given time, specialist advice and psychological support to make the decision that is right for you.

This involves removing as much breast tissue as possible from both breasts. It can reduce breast cancer by more than 90%, although a small residual risk remains.

Breast reconstruction is optional. It may be performed at the same time, at a later date, or not at all. Your surgical team should explain the possible physical, emotional and practical effects of each option.

Some people may also be offered risk-reducing medication for breast cancer as an alternative or in addition to screening.

This operation removes both ovaries and both fallopian tubes. It substantially reduces the risk of ovarian and fallopian tube cancers.

The operation is commonly considered:

  • Between ages 35 and 40 for people with a pathogenic BRCA1 variant;
  • Between ages 40 and 45 for people with a pathogenic BRCA2 variant.

The timing should be personalised and will include consideration of your family history and plans for having children.

Removing both ovaries means that you will no longer produce eggs or be able to conceive naturally. Fertility preservation and other reproductive options should therefore be
discussed before surgery.

If the operation takes place before natural menopause, it causes an immediate surgical menopause. Hormone replacement therapy (HRT) is usually recommended until around the natural age of menopause unless there is a medical reason why it would not be suitable. Your clinical team should discuss fertility, menopause symptoms, bone and heart health, sexual wellbeing and HRT with you before surgery.

What results might I receive?

There are two reportable outcomes from BRCA testing:

  1. No pathogenic variant identified

    This means that the test did not identify a pathogenic or likely pathogenic variant in BRCA1 or BRCA2. It does not mean that you cannot develop cancer or rule out every form of inherited cancer risk. Your risk may still be influenced by you age, medical and family history, other genes, or environmental or lifestyle factors.

  2. A pathogenic variant identified

    This means that a pathogenic or likely pathogenic variant has been identified in BRCA1 or BRCA2. It does not mean that you have cancer or will definitely develop it, but your lifetime risk of certain cancers will be increased.

    An independent genetic counsellor will explain your result, its implications and the options available to you. Depending on your circumstances, these may include additional cancer surveillance, risk-reducing interventions, and referral to NHS clinical genetics services via your GP. Your result may also have implications for biological relatives.

    What about variants of uncertain significance?
    A variant of uncertain significance (VUS) is a genetic change whose effect on cancer risk is not yet known. VUS are not clinically actionable and are not reported through this pathway. If there is sufficient evidence for a variant to be classed as pathogenic or likely pathogenic, it will be reported.

    Occasionally, a saliva sample may not provide enough suitable DNA for analysis. If this happens, you may be asked to provide another sample.

    As part of this service, a copy of your result will be sent to the GP details you provide.

Which cancers are associated with BRCA1 and BRCA2 ?

Pathogenic variants in BRCA1 and BRCA2 are most clearly associated with breast, tubo-ovarian, prostate and pancreatic cancers. The level of risk and strength of the evidence differ between the two genes.

Most research has reported risks using female and male categories. These terms are used below to reflect how the evidence was collected and are not intended to define anyone's gender identity.

Estimates reported for females: cumulative risk to age 80

Cancer type

Breast

Ovarian*

Pancreatic

General population

Approx. 10-12%

Approx. 1.5%

Up to 1%

BRCA1

72% (65-79%)

44% (36-53%)

Similar to general population risk

BRCA2

69% (61-77%)

17% (11-25%)

Approx. 2%

*Ovarian cancer includes ovarian and fallopian tube cancers.

Estimates reported for males: cumulative risk to age 80

Cancer type

Breast

Prostate

Pancreatic

General population

Less than 0.1%

Approx. 12%

Approx. 1%

BRCA1

0.4% (0.1-1.5%)

Not clearly elevated

Approx. 3%

BRCA2

4% (2-8%)

27% (21-35%)

Approx. 4-5%

These figures are estimates based on large groups of people. Figures in brackets are 95% confidence intervals, showing the uncertainty around each estimate. An individual person's risk may be higher or lower depending on factors such as age, family history, the particular variant, anatomy, medical history, hormone treatment, or previous surgery.

For transgender and gender-diverse people, individual risk and surveillance options will depend on the organs and tissues present, and other personal circumstances. A genetics professional can provide personalised advice.

What is BRCA?

Everyone has two genes called BRCA1 and BRCA2. We usually have two copies of each gene, with one inherited from each biological parent.

BRCA1 and BRCA2 belong to a group known as tumour suppressor genes. They provide instructions for proteins that help repair damage to DNA and prevent cells from growing uncontrollably.

Everyone has variations in their genes, and most do not affect health. However, a small number of changes in BRCA1 or BRCA2 are classified as pathogenic variants because they prevent the gene from working properly. A person who inherits a pathogenic variant usually has one altered copy and one working copy of the gene. If the working copy is later lost or damaged in a particular cell, further DNA damage can build up, making it more likely that the cell will become cancerous. This increases the risk of cancer but does not make cancer inevitable.

People of any sex, gender or background can carry a pathogenic BRCA variant. It can be inherited from either biological parent, and passed onto any biological children. If someone carries a pathogenic variant, each biological child has a 1 in 2, or 50% chance of inheriting it.

Carrying a BRCA pathogenic variant does not mean that someone will definitely develop cancer. Similarly, if testing does not identify a pathogenic variant in BRCA1 or BRCA2, this does not mean that they can never develop cancer. Most cancers are not caused by inherited BRCA variants, and cancer risk is also influenced by factors such as age, other genes, medical and family history, and environmental and lifestyle factors.

Which BRCA testing route is right for me?

If you have had cancer, have a significant family history of cancer, or know that a pathogenic variant has already been identified in your family, an NHS Clinical Genetics referral may be the most appropriate route. This is because you may benefit from a more detailed assessment or testing that looks beyond BRCA1 and BRCA2. Your GP can refer you to this service.

Jnetics is facilitating a BRCA testing service as an interim option while the NHS Jewish BRCA Testing Programme is unavailable. This type of testing programme aims to identify people who carry a pathogenic variant in BRCA1 or BRCA2 but may not otherwise be aware of their increased cancer risk.

You can contact us before registering, or at any point during the process if you have questions. Our independent genetic counsellor can also help you understand whether this programme is the most suitable route for you.

A BRCA variant has been identified in my family

If a pathogenic BRCA1 or BRCA2 variant has been identified in your biological family, you have an increased chance of carrying it. Your chance depends on how closely you are related to the person with the variant. For example, if one of your biological parents carries the variant, you have a 1 in 2 (50%) chance of having inherited it.

This does not mean that you definitely carry the variant or will develop cancer. However, if you have inherited it, your risk of certain cancer will be increased.

If possible, obtain a copy of your relative's genetic test result. This can help ensure that you receive the correct test. Testing through an NHS clinical genetics service may be more appropriate when a specific familial variant is confirmed.

If you believe there may be a pathogenic BRCA variant in your family but are unsure, or cannot obtain a copy of your relative's result, you can still use the Jnetics facilitated service if you meet the programme's eligibility criteria. NHS testing for a known familial variant will usually require confirmation of the specific variant, so this route may not be available without your relative's result. Our genetic counsellor can help you understand your chance of carrying a variant and identify the most suitable testing route. Jnetics will not collect this information as this is a 'population screening' programme, but it will be important information to share with our genetic counsellor upon receipt of your results.