Hereditary Cancer Testing

When is hereditary cancer testing used?

Hereditary cancer is defined as cancer that has been caused by an inherited genetic variant. Inheriting certain genetic variants does not necessarily mean that cancer will develop, but the lifetime risk is significantly increased, and it is estimated that 5-10% of all cancer cases have a genetic variant that leads to cancer susceptibility.
 
A genetic cause is suspected when the clinical features or family history include the following, in which case a hereditary cancer panel is recommended:

What are the benefits of hereditary cancer testing?

Our hereditary cancer clinical service at Rainbow Diagnostics aims to identify individuals at a higher-than-population risk for hereditary cancer. We offer a range of hereditary cancer panels to study genes associated with the most common hereditary cancers ranging from a comprehensive multi-cancer panel to targeted panels for breast, ovarian, colorectal, prostate, melanoma and pancreatic cancer.
 
The panels have been expertly curated using current literature and national testing guidelines to maximise clinical actionability, whilst minimising uncertainty. Our routine turnaround time for this testing is 3-4 weeks, however, prioritisation options are available. Please contact us to discuss your requirements.
 
The final clinical report summarises test results by providing variant interpretation, the implications of the results, and any recommended actions. Full genetic counselling is available for patients to explain test results and the associated implications, and to inform relevant support networks.

The 31 gene Comprehensive Hereditary Cancer Panel is the flagship panel for Rainbow Diagnostics. The full gene list for this panel and the other panel options are shown in table 1 below.

Genes included

Comprehensive Hereditary Cancer Screening APC, ATM1, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK22, EPCAM3, HOXB13, MLH1, MSH2, MSH6, MUTYH, NF1, NTHL1, PALB2, PMS24, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL £599
Breast Ovarian Hereditary Cancer Screening ATM1, BARD1, BRCA1, BRCA2, CHEK22, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 £499
Colorectal Hereditary Cancer Screening APC, BMPR1A, EPCAM3, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS24, POLD1, POLE, PTEN, SMAD4, STK11, TP53 £499
Prostate Hereditary Cancer Screening ATM1, BRCA1, BRCA2, CHEK22, EPCAM3, HOXB13, MLH1, MSH2, MSH6 £499
Pancreatic Hereditary Cancer Screening APC, BRCA1, BRCA2, CDKN2A EPCAM3, MLH1, MSH2, MSH6, PALB2, STK11, TP53, VHL £499
Melanoma Hereditary Cancer Screening BAP1, BRCA2, CDK4, CDKN2A, PTEN £499

What do the results mean?

Detection of a pathogenic or likely pathogenic variant means that a variant has been found that increases the risk of the patient developing a certain cancer, but this does not mean that cancer will definitely occur. Genetic variants can occur naturally as we get older, and they are also influenced by both environmental and lifestyle factors.
 
Hereditary cancer susceptibility is linked to genes known as tumour suppressors. The body has two copies of these genes, and a single functional copy of the gene is sufficient at preventing cancer from developing; however, by having a pre-existing variant in a tumour suppressor gene, the risk of both copies being inactivated through a random second fault is increased. In essence, cancer has been given a head start and if the body is found to have these inherited genetic mutations, then a patient’s chances of developing certain types of cancers are higher compared to a person who does not have these genetic variations.
 
If no clinically relevant variant is detected, this means that we have not found any evidence of a genetic variant that is linked to cancer susceptibility. This lowers the risk of a genetic predisposition to cancer but does not exclude it. Variants can exist in genes not covered by the hereditary cancer panel, as well as in genomic regions that fall outside of the scope of testing, such as deep intronic variants or promoter regions.
Participation in national screening programmes remains important, as well as adopting a healthy lifestyle, as at least 90% of cancers are sporadic.

FAQ

Cancer is uncontrolled cell growth in an area of the body. When uncontrolled cell growth happens, it can form a tumour. Cancerous tumours can spread to other tissues which can affect how the body functions. Cancer is caused by variants in genes which normally control the growth and replication of cells. For more information please see Cancer Research UK.

Please refer to our hereditary cancer testing information on this website.

Yes. The test is available to all adults over the age of 18 regardless of any known health conditions and family history. Many people get tested when they have been diagnosed with cancer to find out if they have an inherited susceptibility gene which could have resulted in the cancer developing. This information can then be used to inform other family members.

Rainbow Diagnostics offer a range of testing kits to study genes associated with the most common hereditary cancers ranging from a comprehensive multi-cancer testing kit to targeted kits for breast, ovarian, colorectal, prostate, melanoma and pancreatic cancer.

The genes covered in each hereditary cancer testing kit are included in the table 1. All genes have been expertly curated and have known clinical associations with increased cancer risk.

The genes selected in the Rainbow Diagnostics hereditary cancer testing kits have been expertly chosen using scientific and medical literature and have been developed in accordance with national testing guidelines. All genetic variants reported will be clinically actionable and allow for informed decisions regarding risk management programmes.

Yes the BRCA 1 185delAG (c.68_69delAG), BRCA1 5382insC (c.5266dupC), and BRCA2 6174delT (c.5946delT) gene mutations can be detected by the Comprehensive Hereditary cancer panel, the hereditary breast cancer panel, the hereditary breast and gynaecological cancer panel (and the hereditary prostate cancer panel and the hereditary pancreatic cancer panel).

Next Generation Sequencing (NGS) is a large-scale, high-throughput technology that allows the order of nucleotide bases within a genome to be studied. NGS alongside bioinformatic analysis is widely used in both the medical healthcare industry as well as within clinical research to investigate different health conditions including cancer.

The team of HCPC registered clinical scientists at Rainbow Diagnostics will interpret your test results in accordance to well recognised best practice guidelines and provide you with a thorough report of your results.

Your results will be interpreted by our team of expert clinical scientists and the results will be returned securely either to yourself or to your healthcare provider dependent on your healthcare providers preferred method of return. All results are treated as fully confidential, and we will not share any personal details or test results with any third parties without your consent. Your result may become part of your record with your healthcare provider.

After completion of the testing process, the sample will be stored. Please refer to the consent information for further information regarding storage of DNA and data.

Please contact the laboratory via hello@rainbowlabs.co.uk to request a repeat tube or for any further questions regarding sampling.

If you would like more information on any of our hereditary cancer testing kits or the testing process, please get in touch will us via email  hello@rainbowlabs.co.uk

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