All of us have a 1 in 2 lifetime risk of cancer, but some common cancers – breast, melanoma, pancreatic, prostate and ovarian – are known to occur more frequently in families, passing from one generation to the next. This is because certain gene mutations can be inherited. Perhaps the most commonly talked about are the BRCA 1 and BRCA 2 genes, where mutations can indicate increased risk of developing breast, melanoma, pancreatic, prostate and ovarian cancers.
The 30-gene Pan Cancer Panel test from Everything Genetic, examines BRCA1 and BRCA2 and an additional 28 genes which can also indicate risk in the areas of uterine, colorectal (bowel) and stomach cancer.
Why have this test?
In 2012 there were 14 million new cases of cancer worldwide and 8.2 million cancer related deaths with predictions of annual numbers of new cases rising to 22 million in the next two decades. With this in mind, prevention is key.
In a well publicised study published in April this year, researchers at the San Diego School of Medicine reported that higher levels of vitamin D (specifically serum 25-hydroxyvitamin D) were associated with a correspondingly reduced risk of cancer in women. The findings were published in PLOS ONE and can be read in full here.
In 1980, 30 years earlier, one of the authors, Cedric Garland and his late brother, Frank, made the first connection between vitamin D deficiency and some cancers when they noted ‘populations at higher latitudes (with less available sunlight) were more likely to be deficient in vitamin D and experience higher rates of colon cancer.’ Subsequent studies by the Garlands and others found vitamin D links to other cancers such as breast, lung and bladder.
The new PLOS ONE study pooled analysis from two previous studies to obtain a larger sample size of over 2,300 women. The only accurate measure of vitamin D levels is a blood test and in this study, the researchers were looking for a greater range of blood serum levels of 25-hydroxyvitamin D or 25(OH)D. What they found was that women with 25(OH)D concentrations of 40 ng/ml (100nmol/L) or greater had a 67 percent lower risk of cancer than women with levels of 20 ng/ml (50nmol/L) or less.
Knowing you have a genetic mutation enables you to make sure you have the appropriate regular screening and investigations. Many mutations are known to be hereditary; if you have a mutation, there is a 50% chance that your siblings and children will have it too.
What genes are tested?
Genes APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4*, CDKN2A(p14ARF), CDKN2A(p16INK4a), CHEK2, EPCAM*, GREM1*, MITF*, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2*, POLD1*, POLE*, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
What does the test involve?
This test is a simple saliva test that you can do in the clinic on the day of your assessment, or in your own home of you prefer – we do not need a blood sample. If you choose to add this test after your health assessment, you will receive a kit in the post with clear instructions on taking your sample, together with all the paperwork you need to sign and post to Everything Genetic. The Cancer 30 Gene Panel can be added to all our assessments for £495.
How long does reporting take?
Once your sample is received at the US laboratory, it will be sequenced, and your genes analysed. A report is then generated, usually within 5 weeks of the laboratory receiving your sample.
How will I get my results?
Your Preventicum doctor will explain the process in your consultation, and you will also have a counselling session with a consultant (usually the day after your Preventicum assessment) so you understand this fully before consenting for the test. Once your genes have been analysed, you will be sent your results from Preventicum. If there are any positive findings you will also be contacted by a Consultant Geneticist to discuss these, the implications, and next steps. If the results are negative but you still wish to discuss these further, a consultation can be arranged at no extra charge.
Discussing your results with a consultant geneticist will help you to:
- Understand your risks
- Monitor your health
- Consider your lifestyle or diet
- Protect your family
All of us have a 1 in 2 lifetime risk of cancer. Prevention is key.
What your results mean for you
A positive result does NOT mean you have cancer, or that you will definitely develop it. It does means that a mutation, or genetic change, has been identified in a specific gene that increases the chance of your developing certain cancers in your lifetime – and your personal results will provide more detailed information specific to you. There may also be implications for other members of your family – and this will also be discussed with you.
A negative result means that no mutations or genetic changes associated with an increased risk of the most common hereditary cancers were identified in the genes that were analysed.
The result does not eliminate your risk of developing cancer completely as there are other factors, such as lifestyle, or perhaps mutations not detected by current technology or mutations in other genes. Again, all this will be discussed with you.
Variant of uncertain significance
This is where a gene mutation has been found, but at present we do not know if this affects your risk of certain cancers. Our scientists use state-of-the-art techniques to classify variants according to American College of Genetics and Genomics guidelines. All clinically actionable variants (i.e. factors like pathogenic and likely pathogenic – in other words able to, or likely to cause a disease/condition) are confirmed using an alternative technology. We understand that this can sound complex, so if your results show you have an actionable variant, this will be explained to you.