What is Hereditary Cancer Testing?

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 cancers are caused by an inherited genetic predisposition.

Genetic testing can identify genetic variants associated with an inherited genetic predisposition to developing certain cancers.

What are the benefits of hereditary cancer testing?

Detection of a gene variant empowers the individual to make (not makes) changes to their lifestyle, and where necessary, access more frequent cancer screening, enabling earlier detection, if a cancer does develop. Risk-reducing surgery may also be available in some situations, to reduce the risk of cancer developing.
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Genetic testing enables patients and family members to make informed choices. All our genetic testing services are fully supported by our experienced GCRB and AHCS Registered Genetic Counsellor. Unlike many other private genetic testing companies, we offer pre- and post-test consultations to all our clients. This means that you and your family will be able to fully understand any increased cancer risks and manage them accordingly.

What Genes are included?

Comprehensive Hereditary Cancer Panel

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

Hereditary Breast Cancer Panel

ATM¹, BARD1, BRCA1, BRCA2, CHEK2², PALB2, PTEN, RAD51C, RAD51D, STK11, TP53

Hereditary Breast and Ovarian Cancer Panel

ATM¹, BARD1, BRCA1, BRCA2, BRIP1, CHEK2², EPCAM³, MLH1, MSH2, MSH6, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53

Hereditary Prostate Cancer

ATM¹, BRCA1, BRCA2, CHEK2², EPCAM³, HOXB13, MLH1, MSH2, MSH6

Hereditary Colorectal Cancer (including Lynch syndrome) Panel

APC, BMPR1A, EPCAM³, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2⁴, POLD1, POLE, PTEN, SMAD4, STK11, TP53

Hereditary Melanoma Cancer Panel

BAP1, BRCA2, CDK4, CDKN2A, PTEN

Hereditary Pancreatic Cancer Panel

APC, BRCA1, BRCA2, CDKN2A EPCAM³, MLH1, MSH2, MSH6, PALB2, STK11, TP53, VHL

Target region for all genes includes full coverage of exons and exon/intron boundaries up to +/- 20bp.
Panel does not cover promoter, 5' or 3' UTR.
CNV calling does not include VHL, HOXB13, POLDI, NF1 and NTHL1 genes.
Interpretation is based on the MANE transcript.
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¹Reporting is restricted to the truncating or frameshift variants only and c.7271T>G variants in ATM.
²Truncating or frameshift variants in CHEK2.
³Exon deletion of exon 8 to 9 of EPCAM.
⁴PMS2 and its pseudogene PMS2CL share high sequence homology for exons 12-15. This test does not distinguish whether variants seen in PMS2 originate from PMS2 or PMS2CL. Further testing may be required to disambiguate any variants found in exon 12-15 of PMS2.

How are samples taken?

Our hereditary cancer panels use genomic DNA (gDNA) extracted from saliva or blood samples.

For saliva samples, a complete sampling kit containing a sample collection tube and full instructions is available for self-sampling.

What does it cost?

£600

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Hereditary Cancer Testing