The Encode Hereditary Multi-Cancer Panel is a germline genetic test that analyses 90 genes associated with inherited susceptibility to cancer. It uses DNA extracted from a blood sample to identify genetic variants that may affect a person’s risk of developing one or more types of cancer.
What is this package used for?
This panel provides a broad assessment of inherited cancer susceptibility. Results are considered alongside personal and family history and may help healthcare professionals plan appropriate cancer-risk management.
Because inherited variants can be shared among biological relatives, an identified pathogenic variant may also provide relevant information for family members.
Genes analysed
ACVRL1, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN2A, CFTR, CHEK2, ENG, EPAS1, EPCAM, EXT1, EXT2, FAM175A, FANCA, FANCC, FANCG, FH, FLCN, GALNT12, GEN1, GREM1, HOXB13, KIT, MAX, MC1R, MDH2, MEN1, MET, MITF, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NF2, NTHL1, NTRK1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RHBDF2, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SPINK1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1 and XPC.
Testing method and scope
Genomic DNA is extracted from EDTA whole blood and analysed using next-generation sequencing.
The panel examines exons, adjacent ±10-base-pair intronic regions and known splice regions of the 90 genes for:
- Single-nucleotide variants
- Small insertions and deletions
Copy-number variants are also screened in the following 13 genes:
APC, ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2 and TP53.
Identified variants are classified as pathogenic, likely pathogenic, variants of uncertain significance, likely benign or benign according to recognised genetic-variant interpretation guidelines.
Understanding the results
A positive result may identify an inherited genetic variant associated with increased cancer susceptibility. The significance of the result depends on the gene, variant and the individual’s personal and family history.
A negative result means that no deleterious germline variant was identified within the regions covered by the test based on current cancer-mutation databases. It does not eliminate the possibility of hereditary cancer risk or the future development of cancer.
Important information
This is an inherited cancer-susceptibility test and does not diagnose an existing cancer. Results should be interpreted by an appropriately qualified healthcare professional and considered alongside personal risk factors, family history and standard cancer-screening recommendations.
