Glossary

Learn about the terms and technologies we discuss across our website.

Acquired mutations. These are the most common cause of cancer. They occur from damage to genes in a particular cell during a person’s life. This mutated cell, goes on to divide many times and form a tumour. A tumour is an abnormal mass. Cancer that occurs because of acquired mutations is called sporadic cancer. Acquired mutations are not found in every cell in the body and they are not passed from parent to child. Factors that cause these mutations include:

  • Tobacco
  • Ultraviolet (UV) radiation
  • Viruses
  • Age

Biomarker is a biological molecular marker found in body fluids or tissues that is a sign of a normal or abnormal process, or disease. A biomarker is used to see how well the body responds to a treatment for a disease.

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 suppressors 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.

Break apart translocation is where one end of the gene is labelled red and the other end of the gene is labelled green. Normal copies of the gene are seen as a red-green fused signal (cell on the right). If there is a translocation or rearrangement, the gene breaks into separate red and green signals.

Chromosome. DNA is packaged into small units called chromosomes. A chromosome contains a single, long piece of DNA with many different genes. Every human cell contains 23 pairs of chromosomes.

Clinical cancer trials A cancer clinical trial is a way of testing new approaches in cancer patients. Standard treatment is accepted and well used to treat particular types of cancer. With clinical trials, a new drug is tested against the standard treatment. Patients consider clinical trials to help find a more effective treatment for preventing cancer recurrence or cancer treatment. In a clinical trial every test, procedure, dose of drug is provided according to good clinical practice. Patients talk to their doctor about clinical trials in the treatment decision-making process.

CNV (Copy Number Variation). Is a structural variation where one individual has a different number of copies of a specific gene compared to another individual. The number of variants/repeats can vary between individuals’ genomes. Some people may have two, three or four times the copies in a specific chromosomal region. CNV includes insertions, deletions, and duplications of segments of DNA.

Companion diagnostic testing is a test used to help match a patient to a specific drug or therapy. A companion diagnostic test may identify whether a patient’s tumour has a specific gene change or biomarker that is targeted by the drug. This helps determine if the patient should receive the drug or not.

Dominant diseases can be caused by only one copy of a gene with a DNA mutation. If one parent has a disease, each child has a 50% chance of inheriting the mutated gene.

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).

DNA Methylation is a chemical addition to a piece of DNA that turns it on or off.

DNA Mutation is a change in a DNA sequence. DNA mutations in a gene can change what protein is made.

DNA repair genes fix mistakes made when DNA is copied. Many of them function as tumour suppressor genes. BRCA1, BRCA2, and p53 are all DNA repair genes.
If a person has an error in a DNA repair gene, mistakes remain uncorrected. Then, the mistakes become mutations. These mutations may eventually lead to cancer, particularly mutations in tumour suppressor genes or oncogenes.

Environmental Factors can include exposures related to where we live as well as behaviours such as smoking, exercise and lifestyle factors such as foods that we eat.

Epigenetics is the study of changes in phenotype caused by something other than changes in the underlying DNA sequence (for example, DNA methylation).

Familial cancer refers to cancer that appears to occur more frequently in families than is expected from chance alone. While no specific mutation has been linked to these cancers, familial cancer may have a hereditary component that has not yet been identified.

FISH Fluorescence in situ hybridization is a technique used to detect chromosomal abnormalities. FISH is based on DNA probes pairing specific target sequences of sample DNA. Attached to the probes are fluorescent reporter molecules which under fluorescent microscopy confirm the presence or absence of a genetic mutation. It is an established tool in diagnostic and discovery of cancer.

Gene expression is the process where the information stored in DNA is used to convert the set of instructions into a functional product e.g. a protein. Changes in gene expression can affect how much of a protein is made, as well as when the protein is made.

Genes are the body’s instructions and determine how the body develops and is maintained. Some genes prevent cancer developing: if there is a mutation (change) in one of these cancer genes, then the gene does not work correctly and causes an increased risk of cancer. Mutations in several hundred genes can cause an increased risk to specific types of cancer.

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.

Genetic testing looks at the DNA code for a specific gene or genes known to be associated with cancer. It provides information about the gene(s) which are analysed.

  1. Normal: means no disease-causing mutation is found
  2. Positive: a known cancer-causing mutation is found to aid targeted treatment choices and relatives can have testing for this mutation
  3. Inconclusive: a mutation of unknown significance is found where the lab has found a change in the gene that they cannot interpret

Genetic risk testing helps estimate your chance of developing cancer in your lifetime. It searches for specific changes in your genes, chromosomes, or proteins. These changes are called mutations. Genetic tests include:

  • Breast cancer
  • Ovarian cancer
  • Colon cancer
  • Prostate cancer
  • Pancreatic cancer
  • Melanoma
  • Kidney cancer
  • Stomach cancer

Genetic testing can help:

  • Predict your risk of a particular disease
  • Find if you have genes that may pass increased cancer risk to your children
  • Provide information to guide your therapeutic treatment
  • Results can help with management of a condition e.g. precision medicine, increased surveillance screening, or lifestyle changes.

Genetic testing cannot say if you will develop cancer but can tell you if you have a higher risk than most people.

Genomics refers to the study of all of the genetic material in an organism.

Genotype. The genotype of a person is her or his genetic makeup. It can also refer to the alleles that a person has for a specific gene.

Germline mutations can be passed on from parent to child, while mutations that occur in body cells (somatic mutations) cannot be inherited. Germline mutations in BRCA1 or BRCA2 genes increase a woman’s risk of developing hereditary breast or ovarian cancers and a man’s risk of developing hereditary prostate or breast cancers. They also increase the risk of pancreatic cancer and melanoma in women and men. The most commonly mutated gene in people with cancer is p53 or TP53. More than 50% of cancers involve a missing or damaged p53 gene. Most p53 gene mutations are acquired. Germline p53 mutations are rare, but patients who carry them are at a higher risk of developing many different types of cancer.

Hereditary cancer is caused by an inherited genetic mutation. 10-15% of most cancers are due to inherited genetic mutations. It is typical to see a recurring pattern of cancer across two to three generations—like multiple individuals diagnosed with the same type of cancer(s) and individuals diagnosed with cancer much younger than average.

H&E staining to identify and provide important data on cell structure to aid cancer diagnosis.

IHC Immunohistochemistry provides valuable information on expression of proteins within tissues at a cellular and subcellular level.

Immunotherapy is a type of cancer treatment designed to boost the body’s natural defences to fight the cancer. It uses materials made either by the body or in a laboratory to improve, target, or restore immune system function.

Indels are a genetic variation in the genome that are either insertions or deletions, depending on whether a specific nucleotide (building block) sequence is present or absent.
Methylation is where methyl groups are added to DNA molecules causing inheritable changes to the DNA segment without changing the DNA sequence itself.

Methylation plays a vital role in optimising the function of many processes within the body including; DNA repair, Hormone regulation, Immune system health. Energy production, Strengthening the nervous system, Wellness and Protecting against cancer.

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.

Oncogenes turn a healthy cell into a cancerous cell. Mutations in these genes are not known to be inherited. Common oncogenes are:

  • HER2, a specialized protein that controls cancer growth and spread. It is found in some cancer cells. For example, breast and ovarian cancer cells.
  • The RAS family of genes, which makes proteins involved in cell communication pathways, cell growth, and cell death.

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

PCR assay involves several critical steps, such as DNA extraction from samples, PCR amplification, and detection. It is a highly sensitive and specific method for the amplification and detection of deoxyribonucleic acid (DNA). It is the most widely used technique in molecular biology and can detect as little as a single fragment of DNA. When specific clinical samples are tested by PCR, each procedure is carefully designed. Real-Time Quantitative Reverse Transcription PCR (qRT-PCR) enables reliable detection and measurement during each cycle of the PCR process.

PCR Test is a polymerase chain reaction test to detect genetic material such as a virus. The test detects the presence of a virus and if you have the virus at the time of the test. The test can also detect fragments of the virus even after you are no longer infected.

PD-1. A protein found on T cells (a type of immune cell) that helps keep the body’s immune responses in check. When PD-1 is bound to another protein called PD-L1, it helps keep T cells from killing other cells, including cancer cells. Some anticancer drugs, called immune checkpoint inhibitors, are used to block PD-1. When this protein is blocked, the “brakes” on the immune system are released and the ability of T cells to kill cancer cells is increased.

Phenotype is how a person looks (on the outside and inside the body) due to his or her genes and the environment. Phenotype can refer to how a person’s body functions, e.g., whether he or she has a certain disease.

Pre-symptomatic testing looks at several genes to determine if a healthy individual has an increased risk of developing cancer. There are three possible results:

  1. Normal: there may still be an increased risk of cancer depending on your family history and increased surveillance be recommended by your doctor.
  2. Positive: a known cancer-causing mutation is found. Cancer surveillance can be targeted, and relatives can have testing for this mutation.
  3. Inconclusive: a mutation of unknown significance is found.

Prostate is a gland the size and shape of a walnut which grows bigger as you get older. It sits underneath the bladder and surrounds the urethra, which is the tube that carries urine out of the body. The prostate’s main job is to help make semen.

Prostate cancer is common in men across the UK. 1 in 3 men will get prostate cancer in their lifetime. Men with prostate cancer often have no symptoms unless the disease is detected at a late stage. Early personalised profiling of prostate cancer risk can aid surveillance and mange future disease development.

Prostate cancer mainly affects men 40+ and African-Caribbean males are more likely to get prostate cancer.

Protein is made up of building blocks called amino acids. The main role of DNA is to act as the instructions for making proteins. It is actually proteins that make up most of the structures in our bodies and perform most of life’s functions. Proteins are made in cells and are the major parts of cells, which are the vital working units of all living things.

Recessive diseases are where both copies of a gene must have the DNA mutation for a person to have one of these diseases. If both parents have one copy of the mutated gene, each child has a 25% chance of having the disease, even though neither parent has it. In such cases, each parent is called a carrier of the disease. They can pass the disease on to their children, but do not have the disease themselves.

SNPs (Single Nucleotide Polymorphisms) are the most common occurring genetic variation within an individual’s DNA. Each SNP represents a difference in a single nucleotide (DNA building block). These variations in DNA, that occur between genes, act as biological markers to identify genes associated with different diseases.

Sporadic cancer refers to cancer that occurs due to spontaneous mutations that accumulate over a person’s life. Sporadic cancer cannot be explained by a single cause. There are several factors, such as aging, lifestyle, or environmental exposure, that may contribute to the development of sporadic cancer.

Structural variation is a genomic variation in the structure of a chromosome. There are multiple types of detectable structural variations in the human genome, including; insertions, deletions, CNVs, duplications, inversions and translocations.

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

TMA Trimethylamine production is associated with hardening of the arteries and severe cardiovascular disease.

TMB Tumour Mutational Burden. The total number of mutations (changes) found in the DNA of cancer cells. Knowing the TMB can help plan the best treatment choices. Tumours that have a high number of mutations may be more likely to respond to certain types of immunotherapy.

Tumour suppressor genes are protective genes which normally limit cell growth by:

  • Monitoring how quickly cells divide into new cells
  • Repairing mismatched DNA
  • Controlling when a cell dies

When a tumour suppressor gene mutates, cells grow uncontrollably and may eventually form a tumour. Examples of tumour suppressor genes include BRCA1, BRCA2, and p53 or TP53.

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.

Whole genome sequencing (WGS) is used in research, clinical diagnosis and for public health to decode genes and enable characterization to learn more about health for targeted treatment, molecular epidemiology, and viral identification. Whole-genome sequencing data can identify genetic markers of increased or decreased risk of cancer, as well as markers that help define disease subtype. Each person has a unique DNA sequence which is composed of bases (A, T, C, and G). If you know the sequence of the bases, you have identified their unique DNA fingerprint. Determining the order of bases is called sequencing. Whole genome sequencing is a laboratory procedure that determines the order of bases in the genome of person in one process.

Dr David Fenelly

MD FRCPI ESMO

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

MD

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

MD

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

MD

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.”