BRCA1 & BRCA2 Plus

BRCA 1 & BRCA2 Plus is a genetic test for individuals diagnosed with or at risk of breast cancer. It examines, in detail, the DNA code for nine genes which are known to cause an increased risk of breast cancer and it is performed on a blood sample.

Find out your risk of developing breast cancer with fast, accurate genetic testing.

  • 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

 

1,400

* 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?

Breast cancer is the most common cancer in the UK. Unfortunately, 1 in 7 women will develop breast cancer during their lifetime; with 80% being diagnosed after the age of 50. 1 in 868 men will also be diagnosed with breast cancer. 

Most breast cancer occurs by chance, however approximately 5-10% is hereditary and in some families, ovarian cancer can be genetically related to breast cancer. In families where breast cancer is hereditary it may be possible to find the genetic change (pathogenic variant) which is responsible for the cancer. This allows for appropriate cancer screening and risk-reducing options.

How do I know if I am at risk?

Individuals with hereditary breast cancer generally show one or more of the following clues:

  • Triple negative breast cancer
  • Breast cancer diagnosed before the age of 45
  • Bilateral breast cancer (cancer in both breasts)
  • Several relatives with breast cancer
  • Relatives with Ovarian, prostate, pancreatic cancer or male breast cancer
  • Jewish ancestry
Which genes are tested in BRCA Plus?

The following genes shown in the table below have been shown to be associated with breast cancer and are tested as part of BRCA Plus.

 Gene   Condition   Main Cancer Risks  About the Condition
ATM ATM Associated Cancer

Breast: 17 - 60%
Prostate: moderate risk

Approximately 1 in 200 people (0.5%) will carry a pathogenic variant in the ATM gene. Individuals with a pathogenic variant in the ATM gene have a moderately increased risk of breast cancer, as well as an increased risk of radiation-sensitivity. Increased breast screening is recommended. This gene has also been shown to cause a significantly increased risk of prostate cancer which is more likely to be of a higher grade and therefore to benefit from treatment. Rarely a baby may inherit an ATM pathogenic ATM variant from their mother AND their father, in which case they will have the congenital condition called Ataxia- Telangiectasia (AT). AT causes uncontrollable movements (ataxia), immune defects, and an increased risk of leukaemia and lymphoma.
 BRCA1  HBOC  Breast: <85%
Prostate: ~20%
Ovarian: <60%
Pathogenic variants in BRCA1 & BRCA2 cause hereditary breast and ovarian cancer. In the general population 0.25% of Non-Jewish people and 2% of Ashkenazi Jewish people will have a  pathogenic BRCA variant. 

The estimated cancer risks associated with pathogenic BRCA variants vary. However, pathogenic BRCA1 variants are estimated to cause up to an 85% lifetime risk of breast cancer and up to a 60% risk of ovarian cancer. Men with pathogenic BRCA1 variants may have a slightly increased risk of male breast cancer as well as approximately a 20% risk of prostate cancer. Women with pathogenic BRCA variants should have breast MRI from age 30 years and annual mammogram from age 40 years.

Ovarian cancer screening has not been shown to detect cancer sufficiently early to save lives and therefore some women may consider risk-reducing surgery.

Men may benefit from prostate cancer screening with PSA testing.

 BRCA2  HBOC  Breast: <90%
Prostate: ~40%
Ovarian: <30%
Pathogenic variants in BRCA1 & BRCA 2 cause hereditary breast and ovarian cancer. In the general population 0.25% of non-Jewish people and 2% of the Ashkenazi Jewish people will have a pathogenic BRCA variant. The estimated cancer risk associated with pathogenic BRCA variants vary. However 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. Women with pathogenic BRCA2 variants should have annual breast screening from the age of 30 onwards, including mammograms and breast MRI. 

Ovarian screening has not been shown to be beneficial and therefore some women may consider risk-reducing surgery. Men may benefit from prostate cancer screening with annual PSA testing from age 40.

Occasionally, a baby will inherit two pathogenic BRCA2 variants and will therefore have the congenital condition known as Fanconi Anaemia.

 CDH1

HDGC

Breast: 39-60%  Hereditary Diffuse Gastric Cancer (HDGC) causes a high risk of diffuse stomach cancer (83%) and lobular breast cancer (39-60%) as well as a probable increased risk of bowel cancer. Individuals with HDGC will be treated at a centre with expertise in the condition. Increased breast screening with annual breast MRI and mammograms will be recommended. Some people also consider gastrectomy (removal of the stomach) due to the increased risk of stomach cancer) and bowel screening may be suggested.
CHEK2 Hereditary cancer

Breast: 25%
Prostate: moderate

 
Pathogenic variants in the CHEK2 gene are found in 4% of families with hereditary breast cancer and cause a moderately increased risk of breast cancer as well as an increased risk of prostate cancer and possibly bowel cancer. Rarely individuals have been shown to carry two pathogenic variants in the CHEK2 gene which seems to cause a higher risk of breast cancer. Increased breast screening, and in some situations, bowel screening will be recommended.
PALB2 Hereditary Breast Cancer  Breast: 35-57% Pathogenic variants in PALB2 have been shown to cause an increased risk of breast cancer. The risk is estimated to be approximately 35% although the risk is greater if there is a strong family history of breast cancer (up to 57%) and our knowledge of PALB2 is rapidly increasing. Increased breast screening with mammography and MRI is recommended. PALB2 variants may also cause an increased risk of pancreatic cancer and may cause a slightly increased risk of ovarian cancer. Occasionally, a baby will inherit two 2 PALB2 pathogenic variants and will therefore have the congenital condition known as Fanconi Anemia.
PTEN  Cowden’s syndrome  Breast: <85% Bowel: 9-16% Cowden syndrome causes bowel polyps, benign skin lesions, benign breast disease, large head size (macrocephaly), autism and other features. Individuals with Cowden syndrome have an increased risk of bowel (9%), breast (85%), kidney (34%), thyroid (35%), and womb (28%) cancers as well as a risk of melanoma (5%). Colonoscopy as well as mammograms, renal MRI, skin examination and thyroid ultrasounds will be recommended. Risk reducing surgery may be considered.
STK11 Peutz Jeghers syndrome Breast: 45%
Bowel: 39%
Peutz Jeghers Syndrome (PJS) causes polyps in the large and small bowel, as well as ovarian tumours and abnormal colouring of the skin in childhood, particularly on the lips. PJS causes an increased risk of bowel (39%), breast (45%), pancreatic (11%) and other cancers. Mammograms, colonoscopies and other cancer screening will be recommended.
TP53 Li Fraumeni syndrome Breast: 85% by 60y Li Fraumeni syndrome (LFS) is a very rare condition which causes a high risk of cancer in childhood and adulthood: approximately 1 in 5000 to 1 in 20000, people will have LFS. Li Fraumeni syndrome causes an increased risk of sarcomas, brain tumours, breast cancer (85% risk by age 60), adrenal cortical carcinomas and other cancers. Individuals with pathogenic TP53 variants have a 50% risk of developing some type of cancer by age 30 and a lifetime risk of up to 90%. Breast screening with MRI will be recommended. Individuals are also advised to avoid radiation as they have an increased radiation sensitivity.
How are these conditions inherited?

Genes come in pairs; we get one copy from our mother and one copy from our father. At present most cancer syndromes are inherited in a dominant pattern. This means that if someone has a pathogenic variant in one copy of a gene then there is a 50% chance that they will pass this onto their children. The risk of breast cancer can be inherited from either side of the family. The diagram below illustrates this:

BRCA 1 2 Plus -  how are these conditions inherited?

How can genetic testing help? 

Genetic testing can help determine the risk of cancer within a family and guide appropriate cancer screening. Depending on the specific genetic risk, different screening tests can be arranged, and risk-reducing strategies can be considered.

Do I have to be tested for the whole gene panel?

No, if you wish you can choose to be tested for some or all the nine genes in the panel. The number of genes tested will not affect the testing time or pricing.

What will the test show?

There are three possible results:

  1. A pathogenic variant is found in one of the genes which is known to increase the risk of breast cancer. If you have been diagnosed with cancer, this may change your treatment. Increased screening and/or risk-reducing techniques will be recommended.
  2. A variant of unknown significance is found (VUS), but whether this is the definite cause of cancer is unknown. Screening will be recommended based on the family history.
  3. No pathogenic variants are found. It is possible that there may be an undetectable variant or a variant in a different gene. Cancer screening may still be beneficial.
What does it mean if I have a pathogenic variant?

If you have a pathogenic variant this will explain why you and/or your relatives have developed breast cancer and means that you have an increased risk of breast cancer and possibly other cancers. Your exact risk(s) will depend on which gene pathogenic variant has been found. Extra screening and/or risk-reducing strategies will be discussed. It will also be possible to offer predictive testing to other people in your family to see if they also have the pathogenic variant.

Screening

When someone has an increased risk of breast cancer it is usual for them to have screening mammography and often breast MRI scans. The frequency and timing of screening will depend on which genetic pathogenic variant is found.

Screening for other cancers may also be needed and will be discussed if necessary.

Risk-reducing surgery

Unfortunately no screening is 100% effective and in some situations, people may wish to consider risk-reducing surgery. In particular, risk-reducing mastectomy to remove healthy breast tissue may be considered by some women. This is very much an individual decision and obviously needs careful consideration. If a woman wishes to consider this option, her breast surgeon can provide further information.

Additionally, women with a BRCA mutation may consider bilateral salphingo-ophorectomy (removal of the ovaries and tubes).

Breast Awareness

It is important for all women to be ‘breast aware’ which means becoming familiar with how your breasts look and feel. 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.

Signs of breast cancer are:

lumps, thickening or bumpy areas
changes in appearance, like puckered or dimpled skin
discomfort or pain
bloodstained nipple discharge
a rash or red area on the nipple or areola that won’t heal,
a change in your nipple position (pointing differently or pulled in).

Most of the time people with these signs will not have cancer but it is always important to get them checked out.

Other Risk Factors

Some hormonal factors have been suggested as breast cancer risk factors. In particular, it is known that early menarche (first period) and late menopause increase the risk of breast cancer. Breast-feeding lowers the risk of breast cancer, as does early childbirth (before the age of 30).

It is known that the pill lowers the risk of ovarian cancer when taken for five or more years. However, there may be a slightly increased chance of developing breast cancer for women who take the pill for prolonged periods; this risk decreases once women stop taking the pill.

Hormone replacement therapy (HRT) increases the risk of breast cancer when used after a natural menopause however it may be helpful for women who have an early surgically induced menopause.

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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