Everything Genetic Multi-Cancer Panel

A comprehensive cancer risk assessment that provides clinically actionable results to help clinicians and patients make informed healthcare decisions.

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This panel analyses a wide range of genes associated with the reported increased risk in at least one study of one or more of the following hereditary cancers: breast, colorectal, endometrial, gastric, melanoma, ovarian, pancreatic, prostate, renal, skin, thyroid, and uterine.

The test can be used to confirm the presence of a genetic variant in already diagnosed cancer patients, and to inform the presence of an increased risk to develop cancer from the same variant in the immediate relatives of the cancer patient.

It is also suitable for individuals with a family history of cancer to identify their risk of developing the disease due to an inherited genetic variant.

Why choose the Everything Genetic Multi-Cancer Panel?

Comprehensive gene panel – a cost-effective way to identify inherited disease-causing variants to help guide surgical and treatment decisions.
Germline genetic test – the identification of a genetic variant in a patient may guide the testing and management of at-risk relatives.
Accelerated turnaround time – enabling clinicians and patients to make surgical and treatment decisions quickly for better patient outcomes.
Clinically actionable results – helping clinicians and patients to develop personalised screening, prevention, and treatment plans.

Download a copy of our clinicians’ brochure here >>

Download a copy of our patient information leaflet here >>

Diseases tested►Close tab

Hereditary Breast and Ovarian Cancer (HBOC) – BRCA1, BRCA2 and PALB2
Other moderate risk breast cancer genes – ATM, CHEK2, BARD1 and NF1
Other moderate risk HBOC genes – RAD51C and RAD51D
Other moderate risk ovarian genes – BRIP1
Li-Fraumeni Syndrome – TP53
Cowden Syndrome – PTEN
HNPCC (Lynch Syndrome) – MLH1, MSH2, MSH6, PMS1 and PMS2
Familial Adenomatous Polyposis (also MUTYH if homozygous) – APC
Juvenile Polyposis – BMPR1A, SMAD4
Peutz-Jeghers Syndrome – STK11
Other bowel cancer genes – POLE and POLD1
hereditary diffuse gastric cancer (and lobular breast cancer) – CDH1
Von Hippel-Lindau – VHL
Multiple Endocrine Neoplasia – MEN1 and RET
Gorlin Syndrome – PTCH1
Paraganglioma predisposition – SDHB and SDHD
Melanoma genes – CDKN2a, CDK4 and MITF

Genes tested for►Close tab

ABRAXAS1; APC; ATM; AXIN2; BAP1; BARD1; BLM; BMPR1A; BRCA1; BRCA2; BRIP1; CDH1; CDK4; CDKN2A; CHEK2; DICER1; DIS3L2; EPCAM; FANCC; FH; FLCN; GALNT12; HNF1A; HNF1B; HOXB13; KIT; MC1R; MEN1; MET; MITF; MLH1; MLH3; MRE11; MSH2; MSH3; MSH6; MUTYH; NBN; NF1; NTHL1; PALB2; PMS1; PMS2; POLD1; POLE; POT1; PRSS1; PTCH1; PTEN; RAD50; RAD51C; RAD51D; RECQL; RET; RNF43; RPS20; SDHA; SDHAF2; SDHB; SDHC; SDHD; SMAD4; SMARCA4; STK11; TGFBR2; TP53; TSC1; TSC2; VHL; WT1; XRCC2; XRCC3

Test results►Close tab

A personalised results report will be sent to the customer and made available to their clinician (upon the customer’s consent).

There are three possible result outcomes from this test:

A variant detected result – a pathogenic or likely pathogenic variant has been detected
A Variant of Uncertain Significance (VUS) result
A negative result – no pathogenic variant detected

Variant detected: A variant detected result means that a fault in one or more of the persons genes has been found. Therefore, they have an increased risk of developing the cancer related to that gene fault.

View a copy of a sample report here >>

Negative: A negative result means that the test has not identified any faults in the genes analysed. So, the person tested has no variants in the genes analysed that put them at risk of developing the hereditary cancers tested for.

View a copy of a sample report here >>

Variant of Uncertain Significance: The test could report a Variant of Uncertain Significance, also known as a VUS. This means that the test has identified a change in the sequence of one or more of the persons genes, but it is not yet known if that indicates a clinically significant cancer risk. However, it is unusual to receive a VUS result on any of the genes analysed by this test.

View a copy of a sample report here >>

No personal medical guidance is provided with the test result. This should be obtained directly from a clinician.

Ordering information►Close tab

Who can order this test from Everything Genetic? Healthcare providers, individuals, and patient referrals.

Turnaround time: 2 – 3 weeks from receipt of sample in laboratory [1]

Preferred specimen: Non-invasive simple saliva sample using Oragene OG-610.

Alternative specimen collection: Blood. Please use your own EDTA purple top tube (we accept both K2EDTA and K3EDTA). Minimum volume requirement is 3mL for a 10mL tube and 2mL for a 4mL or 6mL tube.

Delivery information: Test kits will be sent out by using a Royal Mail Tracked service, unless otherwise arranged.

[1] MLPA performed on all suspected CNVs may require a longer turnaround time.

Pre and post test clinical support►Close tab

Pre and post-test clinical support is mandatory for those taking the test. This can either be provided by the clinician treating the patient/individual or Everything Genetic’s medical team.

Pre and post-test clinical support provided by Everything Genetic is included in the testing service price. However, if it is provided by a private clinician, the patient/individual taking the test may be charged an additional fee for this service which is at the clinician’s discretion.

This unique and personal clinical support service offered by Everything Genetic provides patients and their relatives the guidance and support they need so they understand their results and what they should do next.

Everything Genetic’s pre-test clinical support is provided through a clinically guided informational video which explains:

What the test is for
Why patients should take the test
What it does and doesn’t test for
What the possible results are from taking the test

If the results show a negative or VUS result, the patient will receive a clinically guided information video explaining what the results mean and what they should do next. A results report will also be sent to the patient and/or clinician via email, with the option of speaking to our medical team.

If the results show a variant detected result, a private consultation will be arranged with either our medical team or the clinician who referred them. Following the consultation, a results report will be sent via email.

For clinicians who provide their own pre and post-test clinical support, the results will be sent directly to them.

Read more about our pre and post-test clinical support service >>

Clinical description►Close tab

Hereditary genetic variants confer an increased risk of an individual’s risk of developing cancers in their lifetime.

Early identification of gene variants which have a predisposition to cancer is an important first step in the diagnosis, management, and treatment of patients and at-risk relatives with a family history of cancer.

This comprehensive panel provides personalised genetic insight to help clinicians create personalised treatment plans for more effective patient care.

Each gene in the Everything Genetic Multi-Cancer Panel has been carefully selected based on its risk potential in the development of one or more of the following cancers: breast, colorectal, endometrial, gastric, melanoma, ovarian, pancreatic, prostate, renal, skin, thyroid, and uterine.

If an individual has a faulty gene, it doesn’t mean that they will develop cancer. It does mean, however, that they are a higher risk than others. Genetic specialists estimate that between 5 – 10% of cancers diagnosed are linked to an inherited gene fault.

It is important to remember that cancers are not only caused by hereditary gene faults: lifestyle, environment and age can all play a part.

Cancer risk and incidences

Breast cancer: Breast cancer is the most common cancer in the UK, accounting for 56,987 cases in 2019. The general population risk of breast cancer for women in the UK is 1 in 7. Approximately 5 – 10% of breast cancer cases are due to an inherited gene fault.

Colorectal cancer: Colorectal cancer is the 4^th most common cause of cancer in the UK, accounting for 44,706 cases in 2019. The general population risk of bowel cancer for men in the UK is 1 in 15. The general population risk of bowel cancer for women in the UK is 1 in 18. Approx. 5 – 10% of bowel cancer cases are due to an inherited gene fault.

Womb cancer; Womb cancer is the 4^thmost common cause of cancer in women the UK, accounting for over 9,700 cases every year. The general population risk of womb cancer for women in the UK is 1 in 15. Less than 5% of womb cancer cases are due to an inherited gene fault.

Gastric cancer: Gastric cancer is the 17^th most common cancer in the UK, accounting for 6,550 cases between 2016-18. The general population risk of gastric cancer for men in the UK is 1 in 76. The general population risk of gastric cancer for women in the UK is 1 in 130. Approx. 1-3% of gastric cancer cases are due to an inherited gene fault.

Melanoma cancer: Melanoma cancer is the 5^th most common cancer in the UK, accounting for 17,845 cases in 2019. The general population risk of melanoma cancer for men in the UK is 1 in 36. The general population risk of melanoma cancer for women in the UK is 1 in 47. Approx. 10% of melanoma cancer cases are due to an inherited gene fault.

Ovarian cancer: Ovarian cancer is the 15^th most common cancer in the UK, accounting for 6,969 cases in 2019. The general population risk of ovarian cancer for women in the UK is 2 in 100 (2%). Approx. 20% of ovarian cancer cases are due to an inherited gene fault.

Pancreatic cancer: Pancreatic cancer is the 9^th most common cancer in the UK, accounting for 11,031 cases in 2019. The general population risk of pancreatic cancer for men in the UK is 1 in 53. The general population risk of pancreatic cancer for women in the UK is 1 in 57. Approx. 5 – 10% of pancreatic cancer cases are due to an inherited gene fault.

Prostate cancer: Prostate cancer is the 2^nd most common cancer in the UK, accounting for 55,068 cases in 2019. The general population risk of prostate cancer for men in the UK is 1 in 6. Approx. 5 – 9% of prostate cancer cases are due to an inherited gene fault.

Renal cancer: Renal cancer is the 8^th most common cancer in the UK, accounting for 12,050 cases in 2019. The general population risk for renal cancer for men in the UK is 1 in 34. The general population risk for renal cancer for women in the UK is 1 in 61. Approx. 3 – 5% of renal cancer cases are due to an inherited gene fault.

Skin (non-melanoma) cancer: Non melanoma skin cancer is the most common cancer in the UK, accounting for 155,985 cases in 2016-18. 1 in 36 UK males and 1 in 47 UK females will be diagnosed with melanoma skin cancer in their lifetime. Most non melanoma skin cancers don’t run in families. But research has found some families seem to have a higher number than normal. You have an increased risk of developing a squamous cell skin cancer (SCC) if one of your parents has had a SCC. People who have a family history of melanoma have an increased risk of basal cell skin cancer (BCC).

Thyroid cancer: Thyroid cancer is the 20^th most common cancer in the UK, accounting for 3,865 cases between 2016 – 18. The general population risk of thyroid cancer for men in the UK is 1 in 332. The general population risk for women in the UK is 1 in 170. Approx. 25% of thyroid cancer cases are due to an inherited gene fault.

Uterine cancer : Uterine cancer is the 11^h most common cancer in the UK, accounting for 10.021 cases in 2019. The general population risk of uterine cancer for women in the UK is 1 in 36.

Limitations

The genetic results are interpreted in the context of the provided clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the provided genetic data or patient information is inaccurate and/or incomplete. If the obtained genetic results are not compatible with the clinical findings, additional testing should be considered.

More complex genetic events such as inversions, translocations, and repeat expansions, are not analysed in this test. In addition, due to technology limitations, certain regions may be poorly covered, or not covered at all. In these regions and others encompassing repetitive, high homology (such as pseudogene homology), and GC-rich sequences, relevant variants can be missed.

The Copy Number Variation (CNV) detection software has a sensitivity of more than 95% for all homozygous/hemizygous deletions, as well as heterozygous deletions/duplications and homozygous/hemizygous duplications spanning at least three consecutive exons. Sensitivity of more than 90% for CNV calling is expected including for single exon. The CNV detection sensitivity is decreased for repetitive and homologous regions, such as pseudogenes. Heterozygous CNVs spanning less than three exons cannot reliably be detected. In cases with low quality DNA, CNV analysis may not be possible to perform.

Potential aberrant splicing is assessed with splice prediction tools. Intronic variants that are beyond 10 nucleotides from exon-intron boundaries are not considered for aberrant splicing analysis, with the exception of known pathogenic splicing variants evidenced by external sources.

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