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Pan-Cancer Genetic Testing

Pan-Cancer Genetic Testing

What is hereditary Cancer?

Cancer is unfortunately very common with 1 in 2 people (50%) being diagnosed at some point in the lifetime: with the majority occurring after the age of 60.  Most cancer occurs by chance, however approximately 5-10% is hereditary and in some families, it may be possible to find the cause of the cancer. This allows for appropriate cancer screening and risk-reducing options.

What are genes?

Genes are the body’s instructions and they determine how the body develops and is maintained. Some genes prevent cancer developing: if there is a pathogenic variant in one of these cancer genes, then the gene doesn’t work correctly and this causes an increased risk of cancer. Pathogenic variants in at least 61 genes can cause an increased risk of cancer and other cancers. However, we know that there are other genes which are also associated with cancer and research is attempting to understand these other genes. 


In addition, some individuals who do not have a pathogenic variant in one of these 61 genes may have an inherited risk due to multiple small genetic changes known as SNPs, which can both increase and decrease the risk of cancer. It is possible to analyse SNPs relating to breast, prostate and colorectal cancer as well as melanoma and calculate the risk of these cancers, however this is a different test and is not included in pan-cancer testing.

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 known 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% (1 in 2) chance that they will pass this onto their children. The risk of cancer can be inherited from either side of the family. 

The diagram below illustrates this:

AD inheritance image

what is Pan-cancer genetic testing?

Pan-cancer genetic testing is a genetic test for people with no personal history of cancer. It examines the DNA code for 61 genes which are thought to cause an increased risk of 11 cancers and is performed on a saliva sample. It does not look at SNPs.

Which cancers are tested?

Pan-cancer genetic testing analyses the genes related to the following Cancers:

  • Breast Cancer
  • Colorectal Cancer
  • Cutaneous melanoma
  • Gastric Cancer
  • Ovarian Cancer
  • Pancreatic Cancer
  • Prostate Cancer
  • Renal Cell Cancer
  • Thyroid Cancer
  • Uterine Cancer

What are the signs of hereditary cancer?

Individuals with a family history of cancer that shows one or more of the following characteristics may have an increased risk of hereditary cancer:

  • Multiple individuals with the SAME or LINKED cancers on the same side of the family
  • Early onset cancer (before the age of 50)
  • Several affected generations
  • Individuals who have been diagnosed with multiple cancers

There are two main groups of cancers which can be linked in some families. These are:

  • Breast, ovarian, prostate and pancreatic cancers
  • Bowel, womb, stomach, prostate and ovarian cancers

What are the possible results?

There are two possible results:

  1. A pathogenic variant is found in one of the genes which is known to increase the risk of cancer. Increased screening and/or risk-reducing techniques will be recommended.
  2. No variant is found. Cancer screening may still be beneficial and will be advised based on your family history of cancer. For people concerned about their risk of breast, prostate, or colorectal cancer they may wish to have the genetic risk score to further to clarify their risk. For more information please click (link to Genetic Risk score).

We do not report variants of uncertain significance as these are unlikely to be helpful in healthy individuals and can cause considerable anxiety.

Although unknown variants are not reported they are regularly reviewed by our scientists and in the very unlikely event that a variant is later shown to be cancer-causing we would re-issue your report and contact you to explain this in detail. 

What does it mean if I have a pathogenic variant?

If you have a pathogenic variant this means that you have an increased risk of some types of cancer. Your exact risk(s) will depend on which gene variant has been found and 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 variant – the test for this would be free within 90 days. However, relatives would need to pay for the associated initial consultation. Alternatively, relatives can have genetic testing through the NHS.


When someone has an increased risk of cancer it is usual for them to have increased screening and this may include mammography for breast cancer, colonoscopy for colorectal cancer, MRIs for renal cancer and so on. Your consultation letter will detail your personal screening plan.

Risk-reducing surgery

Depending on which pathogenic variant has been identified some individuals may consider risk reducing surgery to lower their risks. In particular, risk-reducing mastectomy to remove healthy breast tissue may be considered by some women with a high risk of breast cancer. This is very much an individual decision and obviously needs careful consideration. If an individual wishes to consider this option they would be referred to an appropriate surgeon and psychologist to discuss this further.

Breast awareness

It is important for all women to be ‘breast aware’ which means becoming familiar with how your breasts look and feel. If you notice a change in your breasts it is  important to seek medical advice.


Signs of breast cancer include:

  • a new lump or thickening in your breast or armpit
  • a change in size, shape or feel of your breast
  • skin changes in the breast such as puckering, dimpling, a rash or redness of the skin
  • fluid leaking from the nipple in a woman who isn’t pregnant or breast feeding
  • changes in the position of the nipple

Prostate awareness

It is important for all men to be prostate aware and inform their doctor if they notice any signs that they are concerned about.

Signs of prostate cancer include:

  • passing urine more often
  • getting up during the night to empty your bladder (nocturia)
  • difficulty passing urine – this includes a weaker flow, not emptying your bladder completely and straining when starting to empty your bladder
  • urgency
  • blood in your urine or semen


Signs of breast cancer include:

  • a new lump or thickening in your breast or armpit
  • a change in size, shape or feel of your breast
  • skin changes in the breast such as puckering, dimpling, a rash or redness of the skin
  • fluid leaking from the nipple in a woman who isn’t pregnant or breast feeding
  • changes in the position of the nipple

Lifestyle factors

It is known that a healthy diet can promote good general health and lower the risk of cancer. In particular, maintaining a normal body weight and avoiding abdominal weight gain will lower the risk of  cancer. Avoiding smoking, limiting alcohol intake and doing  regular physical exercise will also lower the risk of  cancer.

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