Breast and Ovarian Cancer Screening Tests

Personalised test to assess predisposition risk

Womanfocus Genetic Screening Test

For women aged 25+

Test results in 7 working days

Identify cancer risk

The Womanfocus genetic cancer test accurately calculates the risk of a person developing breast and ovarian cancer during their lifetime, using a single saliva sample.

  • If aged 25+
  • Your mother or sister has had breast or ovarian cancer
  • Or there is a strong history of cancer in the family

Breast and Ovarian Cancer is the Most Common Cancer in Women

48,000 new breast
cancer cases in the
UK annually

12,000 die from
breast cancer
annually

7,500 new ovarian
cancer cases in the
UK every year

4,100 die from
ovarian cancer
annually

Breast cancer is the most common cancer in women and Ovarian cancer is the most common gynaecological malignancy.

Family history and genetic factors are major risk factors in the development of breast and ovarian cancer.

Other risk factors include:

  • advancing age
  • being overweight
  • hormonal and reproductive factors
  • smoking history
  • ethnic background

Family history is not enough. Test everyone and you overlook no one

Mutated genes involved in DNA repair called DNA Damage Repair (DDR) genes are associated with high or moderate risk of a person developing breast cancer. High risk genes such as BRCA1, BRCA2, PALB2 and STK11 genes are associated with a 40-90% lifetime risk of developing breast cancer. Similarly BRCA1 and BRCA2 genes are associated with a 30-50% and 10-25% risk of ovarian cancer development during a person’s lifetime.

Breast and ovarian cancer risk can also be increased by the inheritance of common genetic mutations called single nucleotide polymorphisms (SNPs). Individually a single SNP causes a very small increase in risk but cumulatively inheritance of many SNPs can give a lifetime breast cancer risk of 33%.

Those women identified at high risk can benefit from lifestyle changes, cancer preventative drugs and increased screenings to catch potential cancers at an early and treatable stage.

Womanfocus is a simple and easy saliva test which uses DNA sequencing to assess the status of a person’s DDR genes and their SNP profile. This information is used to accurately calculate the risk of a person developing breast or ovarian cancer during their lifetime.

If a genetic mutation is identified, close relatives (children, siblings, parents) could have as high as a 50% risk of developing the disease.

1
Customer requests a pre-test consultation with a Healthcare Provider
2
Order Womanfocus directly from the Healthcare Provider
3
Collect saliva sample as per instructions.
4
Oncologica receives the sample and performs the test.
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Customer receives results via a follow up consultation with Healthcare Provider

What is cancer?

A loss of the balance of control between cell growth, division and cell death caused by changes in genes. Genes are a series of messages coded by our DNA that help to build and maintain the body.

Is all cancer genetic?

Yes, all tumours are caused by gene changes meaning the balance of cell growth, division and death is lost.

Is all cancer inherited?

No, familial factors are thought to be responsible for about 20% of tumours.

What can increase the risk of breast cancer?

Age and gender are the two biggest factors followed by oestrogen exposure, genetics and family history. Oestrogen exposure includes the combined oral contraceptive pill and hormone replacement therapy. Please do not change any preparation until you have spoken to your family doctor.

How can genetic testing be helpful?

To identify a gene change that might increase your risk of breast cancer that might mean lifestyle changes, a cancer preventative drug, screening or preventative testing may be offered.

What if nothing is found?

This is likely to lower your risk of breast cancer but if you have a positive family history of breast cancer then additional screening from 40 onwards may still be offered.

What if a significant gene change is found?

Your risk of developing breast cancer can be calculated by either comparing with other people with the same gene change or through computer modelling that also takes into consideration other risk factors and your family history. Then you can be offered advice on risk reduction or early detection strategies.

What if a subtle gene change is identified where the significance is unclear?

The vast majority of these are part of the normal variation of life and are assessed using an internationally agreed code of practice (ACMG). If one of these variants are identified, these will be regularly re-assessed and you will be informed if the classification of the variant changes due to new information coming to light from laboratory research or other families being reported.

How does this compare to NHS testing?

The NHS offers genetic testing to those at the very highest level of risk where the chance of finding a significant gene change is at least 10%. This will miss half of all individuals at the highest risk of developing breast cancer.

What can be done to lower the risk of breast cancer?

Maintaining body mass index in the normal range, reducing alcohol consumption and the use of hormonal blockers such as tamoxifen or aromatase inhibitors (after the menopause). In individuals with approximately a 1% per year risk of developing breast cancer, preventative surgery may sometimes be appropriate with psychological support and further discussion with peer patient champions.

What can be done to detect breast cancer at an early stage?

Screening via annual mammograms can be offered from the age of 40. For individuals approaching a 1% per year risk of breast cancer can be offered MRI screening, usually from age 30 but sometimes earlier.

Can screening be harmful?

Yes, screening might detect a lesion then turns out to benign causing unnecessary investigations and stress. Also not all breast tumours are dangerous and lower life expectancy and so there is a risk of over-treatment. Mammograms involve a very low dose of radiation and some people are concerned that these can increase the risk of gene changes within the breast although the evidence that it causes cancer is lacking.

Are there risks associated with genetic testing?

Genetic testing can raise anxiety, find unclear changes that could be difficult to interpret or give false reassurance if a gene change that hasn’t been identified yet is present but not detected. This is why other risk factors such as family history should be considered.

Can insurance companies use this information?

No, insurance companies cannot use these results but could ask about a family history of cancer or whether an individual is undergoing regular screening or accessing additional healthcare.

What do we know about inherited breast cancer?

We know that there are some genes associated with a very high risk of breast cancer that can also be associated with an increased risk of ovarian and prostate cancer. Oncologica and the NHS offer these tests. There are also genes associated with a moderately increased risk of breast cancer that can be detected with this test which are included alongside a series of tests that can detect subtle changes throughout the DNA which are known to slightly affect the risk of breast cancer, called Single Nucleotide Poymorphisms or SNPs) but when combined together might have a significant impact on the risk calculation.

What new technologies may be coming onto the market?

Oncologica offer genetic testing of tumours to help identify weaknesses within it that might be exploitable with personalised treatments. Oncologica is also developing a test so that drug choices and dosage can be tailored to an individual’s genetic code to reduce the risk of side effects and ensure the drug choice is likely to benefit the individual. Oncologica is also developing technology to help identify and then track genetic changes released from tumours into the bloodstream using similar technology used in pregnant women to detect DNA released from the placenta from the unborn child into a mother’s blood.

Where is additional information available?

At our website and through our dedicated specialist clinics.

BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins to repair damaged DNA. Everyone has two copies of each of these genes—one copy inherited from each parent. BRCA1 and BRCA2 are sometimes called tumour suppressor because when they have certain changes, called harmful or pathogenic mutations cancer can develop. People who inherit harmful mutations in one of these genes have increased risks of several cancers—most notably breast and ovarian cancer. People who inherited a BRCA1 and BRCA2 mutation tend to develop cancer at younger ages. Each child of a parent who carries any mutation in one of these genes has a 50% chance (or 1 in 2 chance) of inheriting the mutation. Cells that don’t have any functioning BRCA1 or BRCA2 proteins can grow out of control and become cancer.

DNA (Deoxyribonucleic acid) contains the genetic instructions in all living things. DNA is made up of two strands that form a double helix. A DNA strand has four different bases arranged in different orders. These bases are T (thymine), A (adenine), C (cytosine), and G (guanine). DNA is “read” by the order of the bases, Ts, Cs, Gs, and As. The specific order, or sequence, of these bases determines the exact information carried in each gene (e.g., instructions for making a specific protein).

Genetic cancer risk 5-10% of all cancer is due to a genetic fault (mutation) which can be inherited. Families with an inherited mutation can benefit from cancer risk screening. Families with an increased risk of cancer often show one of the following clues:
• Several relatives with the same or linked types of cancer
• Relatives diagnosed at particularly young ages (before 50)
• Several affected generations
• Individuals who have been diagnosed with multiple cancers
Cancers which can be linked in some families are Breast, Ovarian, Prostate, Pancreatic, Bowel, Womb and Stomach cancers.

Genetic Counsellor can help explain the risks and benefits of a genetic test, the potential results of a genetic test, what the results mean, how family members may be effected, and direct individuals to relevant patient support groups.

Mutations All cancers begin when one or more genes in a cell mutate. A mutation is a change. It creates an abnormal protein. Or it may prevent a protein’s formation. Mutations happen often and may be beneficial, harmful, or neutral. Typically, the body corrects most mutations. A single mutation will likely not cause cancer. Usually, cancer occurs from multiple mutations over a lifetime. That is why cancer occurs more often in older people.

Oncology is the study of cancer. An Oncologist is a doctor who treats cancer and provides medical care for a person diagnosed with cancer.

Targeted therapy is treatment that targets specific genes, proteins, or other molecules that contribute to cancer growth and survival.

Variant of Uncertain Significance (VUS) is a genetic change whose impact on an individual’s cancer risk is not yet known. Everyone’s genes are slightly different. Some genetic changes (variants/mutations) do not affect the gene’s function and therefore do not increase cancer risk. With genetic testing you might not get a “Normal” or “Positive.” You might get an Inconclusive mutation VUS. Unlike harmful mutations that cause cancer or benign ones that don’t, researchers don’t yet have enough information about VUS to know whether they’re involved in cancer. Almost 20% of genetic tests identify a VUS.

Genetic categories of variants/mutations are ranked from most to least severe.

  • Pathogenic (harmful, increased risk of disease)
  • Likely pathogenic
  • Variant of Uncertain Significance (VUS)
  • Likely benign
  • Benign (harmless)

The categories follow American College of Medical Genetics and Genomics (ACMG) guidelines and genetic results should be shared with a healthcare professional and discussed with a medical doctor.

Read full Glossary

  • ACCURATE GENETIC TEST
    Examines the DNA code of genes known to cause increased risk.
  • EASY SALIVA SAMPLE KIT
    enables genetic testing to aid treatment or future cancer prevention.
  • QUICK RESULTS
    within 7 working days of sample receipt at Oncologica’s laboratory.