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

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

4,100 die from
ovarian cancer

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.

Customer requests a pre-test consultation with a Healthcare Provider
Order Womanfocus directly from the Healthcare Provider
Collect saliva sample as per instructions.
Oncologica receives the sample and performs the test.
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

    Examines the DNA code of genes known to cause increased risk.
    enables genetic testing to aid treatment or future cancer prevention.
    within 7 working days of sample receipt at Oncologica’s laboratory.

Dr David Fenelly


Former: Consultant Medical Oncologyst St Vincent’s University Hospital (SVUH); St Luke’s Hospital, National Maternity Hospital; St. Vincent’s Private Hospital; and Blackrock Clinic, Dublin; Member of International Advisory Board of Oneview Ltd. and Oneview Healthcare PLC; Member Director Centre for Colorectal Disease of SVUH;

Member of American Society of Clinical Oncology, European Society of Medical Oncology and Irish Society of Medical Oncology; Fellow of Royal College of Physicians; Formerly: Member of Breast and Gynaecological Cancer; Post Graduate Training from Memorial Sloan Kettering Cancer Centre.

Prof Umberto Tirelli


Former: Consultant Medical Oncologyst National Cancer Institute Aviano; Specialist in Oncology, Hematology and Infectious Diseases; “Commendatore” of the Italian Republic, awarded by the President of the Republic for scientific merit; co-founder and VP of the Associazione Scientifica Galileo 2001; Member of the Technical Scientific Board (CTS) at Centro di Riferimento Oncologico (CRO) in Aviano, Istituto Nazionale Tumori; Assigned to the Scientific Council of AIN (Associazione Italiana Nucleare) on nuclear power; Former President of AIMAC (Cancer Patients Italian Association) and now part of the Scientific Council;

Formerly appointed by the Italian Minister of Health as member of the National Oncology Commission; Member of the American Society of Clinical Oncology (ASCO), the European Society for Medical Oncology (ESMO), the American Society of Hematology (ASH),and the International Immune-compromised Host Society (IHS); Member of the Scientific Committee of the AIOTE (Italian Association of oncology of the elderly);

Task Force Member (EORTC – European Org for Research and Treatment of Cancer) – Cancer in the elderly; Member of National Academy of Medicine for medical oncology (AIOM);  Environmental Comm. Committee mmber appointed by the Minister of the Environment.

Prof Daniele Generali


Former: Consultant Medical Oncologyst, Azienda Istituti Ospitalieri, Cremona and Prof of Medical Oncology, Trieste Univ; Former Prof of Molecular Oncology, Institute of Molecular Medicine, Oxford Univ. Member of the Board of European Commission for initiative on Breast Cancer; Director of the Unit of Molecular Therapy and Pharmacogenomics, Azienda Istituti Ospitalieri, Cremona; Clinical Director of the Italian Red Cross, Cremona Section; Scientific Director of the Association of Research in Oncology Onlus, Cremona.

I would just like to thank you all for your help, support and professionalism this year, I contacted you after my recurrence of breast cancer, everything was explained to me in detail and I decided to go ahead with the test, I am so glad I did, every one I dealt with was so kind and encouraging, I was very scared about the journey ahead of me. The promptness of all the team was amazing my biopsy was collected quickly and I was contacted by Sarah constantly with updates on what was happening. As soon as the tests were completed I was sent the report with a follow up telephone call from the Doctor who talked me through it, he said he would be available to answer any further questions.

I showed the report to my hospital. Doctors and they were impressed with the information gathered and I am on the drugs recommended in my report and I have been really well with no side effects. Thank you all again.

I would like to pass not only my, but my father’s, gran’s and entire family and friends appreciation to not only Oncologica® but to you directly. Sarah, you went above and beyond what was expected, you took a personal interest and gave huge support. Your tone was always polite and you helped to listen to myself during the emotional moments when speaking. The hope you as a person gave and the encouragement, helped when I had to mount the challenge on behalf of my mother and father. Myself and my father agreed before taking to Oncologica® that as long as we tried all avenues and did everything we could for my late mother, this would be the only way we could coped.

Without yourself and Oncologica® we would not have been able to achieve the goal. My late mother took hope, encouragement and huge amounts of mental positively from the work but more importantly the personal touch you gave. As a person your indirect support helped my late mother. A person who didn’t praise health professionals easily due to career in the NHS and private sector. She praised you from the information, hope and personal feel you gave. You helped to give her peace of mind and know all options were looked into. I can’t sum up our, my feelings as they hold you in the highest regard. Perhaps, to say you have our eternal gratitude summons it all.

I just wanted to get in touch to thank you and the whole team at Oncologica® for the reports you did for my Dad. Despite a very poor prognosis, following the advice in the Oncologica® reports he has been receiving an immunotherapy drug under Dr Fennelly in St Vincent’s Hospital, Dublin, since the early spring and is now in much better health. The latest scans show a significant reduction in the size of the main tumour and a stagnation in the growth of secondary tumours. He is no longer in significant pain and is able to enjoy day to day life again. Thank you all for your hard work, we really appreciate it.

After being diagnosed with stage 4 lung cancer my mothers only treatment option on the NHS was chemo therapy. The doctors gave her 6 months without treatment and only 9 with treatment but her quality of life would have been awful if undergoing chemo therapy.

After finding Oncologica® their help, advice and support have been second to none. Their ground breaking analysis and treatment options enabled my mother to undergo immunotherapy which has successfully reduced the size of her tumour and thankfully she is still with us over 2 years later. This would have not been possible without Oncologica®!

Without Oncologica® we do believe that my mother would no longer be with us but through them and their continued support she is still hear and enjoying her life with us and able to watch her grand children grow and play. We cannot thank Oncologica® enough for everything they have done and their continued support and cannot recommend them highly enough.” Many, many thanks from the whole family.

Karan Jensen was diagnosed in 2017, aged 48 with cervical cancer. Karan ordered the Oncofocus® Test to identify additional treatment options and shares her story here in the following Q&A.

How did your diagnosis come about?

I had been having regular smear tests, but then one came back with irregular cells and the doctor asked to see me in 6 months time. We were moving, so I delayed going back, but when I did get to the doctors, they ended up doing a biopsy. Within 2 weeks I was diagnosed with Stage 2B cervical cancer with lymph node involvement.

What happened after you were diagnosed?

Treatment was started to cure my cancer. I had four cycles of chemotherapy plus 32 sessions of radiotherapy.

Did this treatment work?

Unfortunately, the tumour did not change with this type of chemotherapy, so I then started on alternative therapies.

Did the second round of treatment work?

I was meant to have six sessions of this chemotherapy, but after three, I had a scan and found out that the tumour had grown. I was told that there was no point continuing treatment as my cancer was incurable, and to go home and get things in order.

Did you experience any side effects of chemotherapy?

During chemotherapy, I was hospitalised four times with infections and neutropenic sepsis. The chemotherapy also caused swelling of my legs (lymphoedema), and my kidneys had been damaged so that I had to have a nephrostomy bag attached to collect urine.

How did you feel when they told you that you cancer was incurable?

I have an 11-year-old son, so I was not going to give up and did some research online on the best treatments for my cancer.

What did you find searching online?

I found out about the Oncofocus®® cancer test by Oncologica® on their website and got in touch.

Was it easy getting the Oncofocus® test done?

It cost £2000 but it was an easy decision to make. I just had to fill in a few forms and Oncologica® did all the work to get the biopsy from my hospital.

What were the results of the Oncofocus® test?

The test quickly came back that my tumour was exceptionally high in a protein called PD-L1, so it would respond really well to immunotherapy, which works by boosting a person’s immune system to help it recognise and fight cancer cells.

What happened when you knew the results of the test?

The treatment that the test recommended was not available on the NHS so my oncologist contacted Christie Hospital in Manchester, which was part of the PROCLAIM-CX-072 clinical trial that is investigating an experimental drug that targets PD-L1.
I was very sick at this stage, and the doctors were not sure that I would be well enough to get into the trial. As my levels of PD-L1 were so high, however, they thought they had to give me the opportunity.

Was this new treatment successful?

I was meant to have four sessions of CX-072 plus ipilumumab every 3 weeks, plus CX-072 maintenance therapy for a year. Although the treatment was not as bad as chemotherapy and I did not lose any hair, it still made me feel very poorly. After the third session, I developed a bad reaction and the level of some of my white blood cells that fight infection, neutrophils, plummeted and could not be restored to normal. It was therefore too risky to continue the treatment.
The good news was that a scan in March this year showed that the new therapy had reduced the tumour by 50%.

Are you still receiving treatment?

Even though the treatment has stopped, my immune system has taken over and is fighting the tumour. I am scanned every 2 months, and every time my tumour reduces by a further 0.5% to 1%. Last week I had another scan, and it had reduced by 3% and I feel better today than I have over the past 3 years.

What are your thoughts on the Oncofocus® test?

If I had had the test before receiving chemotherapy, this would have saved the NHS a load of money giving me a treatment that did not work and putting me through so much. I continue to need a nephrostomy bag due to the damage done by chemotherapy, which needs changing once a week and the tubes replaced in hospital every 3 months.

What is happening now?

We are now at the ‘watch and wait’ stage. However, as I have had such a good response to the immunotherapy and feel so much better, I can have more treatment if needed in the future. The swelling in my leg has gone down and I can now wear my shoes and move around normally again. I was so sick that I did not think that I would see last Christmas. Now I will get to experience Christmas again this year.

Prof Giovanni Palazzoni


Former Manager of the Centre for antiblastic drug (UFA) preparation, he has delivered ECM courses for nursing staff involved in antiblastic drugs, provided expertise on linear accelerators use and fissile material implants, he has managed a chemotherapy day hospital, Cobalt therapy plant and chemotherapy, biohazard drugs and vaccines which can potentially be fatal. He has managed partially inactivated pathogens, oncological radiotherapy, manipulated antineoplastic agents, run clinical physics lab simulations and managed the digital image processing for therapeutic planning at the Columbus Integrated Complex Gemelli and University Polyclinic Foundation.  He was also an editor of the bestselling book "Seno Buono Seno Cattivo" ie Good Breasts-Bad Breasts in art, illness, and reconstructive surgery.

I was diagnosed with terminal bowel cancer in March 2018. I started radiotherapy, which worked well. The tumour then started to cause a build up of fluid in my abdomen, which chemotherapy helped to reduce. However, when the first line chemotherapy stopped working after 5 months and then the second line chemotherapy failed to work at all, the fluid returned and I had two stays in hospital to help drain it.

Having exhausted standard therapy and become bedbound, I found out about the Oncofocus® Test from an online search. The overall process from submitting the form to Test results was easy and rapid. The company called to talk me through the process and to explain the results of the Test, and also took care of the logistics of collecting the sample from the hospital. It turned out that I have a rare cancer mutation and was lucky to have had a response at all to the initial chemotherapy.

I had a remarkably effective and rapid response to the drugs that the Test recommended for my cancer mutation. After just 2 weeks of treatment, my abdomen returned to normal size. After 4 weeks of treatment, I was swimming, walking and fully enjoying all that life has to offer again. I am truly grateful for the significant improvement in quality of life I experienced, especially as I had no side effects from the new drugs. The extra months that this gave me meant that I had further quality time with my family and could prepare them better for life without me.

A father of two with terminal cancer has been given new hope after being offered a free pioneering test to help find alternative treatments.

Mick Weldon, 38, from Cambourne, has a rare form of stomach cancer which is resistant to conventional forms of treatment.

In April, the News reported on Mick’s efforts to crowdfund enough money to cover the cost of analysis of new treatments.

After reading his story, Cambridge-based research company Oncologica® approached Mick to offer a ground-breaking test for free.

Mick was first admitted to hospital in December 2015 with a suspected ruptured ulcer, only to be later diagnosed with a cancer that had spread to his abdomen, liver, and surrounding organs.

Doctors found that Mick had a rare subset of Stage 4 GIST stomach cancer called wild type SDH deficient, which is incurable, but could be held at bay by new drugs.

Normally costing around £1,500, Mick under went an Oncofocus® test, which has been developed to detect every mutation linked to every drug and applicable to all tumour types.

Oncologica® claim that the test can identify specific treatment options in 85 to 90 per cent of patients.

Mick’s results show that a certain protein, PDL-1, expressed by his tumours, was acting as a ‘cloaking agent’ and effectively hiding the tumour from his immune system.

He now hopes his crowdfunding efforts will help to finance three cycles of anti-PDL-1 drugs.

“I’ve gone from having no options to a lot of options,” he said. “I’m amazingly positive. I’ve gone from a place where I had no hope to where I have a viable option. We’re all really upbeat.”

Mick hopes new treatments will give him more time to spend with his wife Emma and daughters Charlie, 17, and Rebecca, 15.

He previously said: “No one prepares for their own death, no wife wants to stand by and watch her once proud strong husband slowly degrade, and I can’t even begin to imagine how hard it must be for two beautiful young ladies to watch the father they have looked up to for as long as they have known slowly slip away.”

If Mick is able to secure the funding for his three cycles of drugs he hopes the evidence gathered will benefit other cancer patients.

“The NHS needs evidence,” he said. “We have to prove these drugs are viable.”

“I’d like to be in a position to start up a database where people can find this information where people can look up their options.”

He also remains realistic about how any new drugs will help his condition, but very thankful to the support of Oncologica®.

“Even if this fails, at least something is being done and I’m not just waiting to die,” Mick said.

“[Oncologica®] are absolutely amazing people. It buoyed me up. Until that point I was coming to the end of conventional treatment.”

Dr Marco Loddo, co-founder and scientific director at Oncologica®, said: “We saw the article and learnt about Mick’s story and in particular that his tumour type was quite rare and found out that he had exhausted all treatment options on the NHS.

“We hoped that we might be able to help with our tests. We’re happy to help.”

Oncologica® is a precision oncology services laboratory and contract research organisation founded in 2014.

Its Oncofocus® test aims to help encourage a move away from toxic non-specific cancer treatments to the use of the new generation of biological anti-cancer agents called targeted therapies.

Targeted therapies specifically hit cancer cells and not the normal cells of the body. They are said to be more effective than chemotherapy because patients are spared severe toxic side effects such as hair loss, infections, anaemia, gut toxicity and fatigue.

Professor Gareth Williams, co-founder and medical director, said: “What we are doing is to optimise the treatment pathway to provide a roadmap and that can have huge benefits for patients. You can avoid all the toxicity issues.”