Hereditary cancer solutions by SOPHiA GENETICS™️

Solutions for the analysis of genetic alterations associated with different hereditary cancer predisposition syndromes, based on next-generation sequencing and automated analysis using the SOPHiA DDM™ software.

Detailed Description

SOPHiA GENETICS™️ solutions for hereditary cancer use capture-based NGS technology to achieve uniform coverage of target regions and high on-target rates. The analytical workflow is supported by SOPHiA DDM and Alamut Visual Plus, enabling the detection of complex genomic variants and efficient data interpretation.

This combination provides high-quality variant calling and annotation, pathogenicity preclassification based on ACMG guidelines, and filtering and prioritisation tools through to final report generation.

Available Panels

SOPHiA GENETICS™️ Comprehensive HCS_117 Community Panel

The panel analyses a total of 117 genes associated with hereditary cancer predisposition:

ACD, AIP, AKT1, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK2, CREBBP, CTNNA1, DICER1, DIS3L2, EGFR, EGLN1, EPCAM, ERBB2, ERCC2, EXT1, EXT2, FANCC, FANCG, FANCM, FH, FLCN, GALNT12, GATA2, GREM1, HNF1A, HOXB13, HRAS, KIF1B, KIT, LZTR1, MAX, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRKAR1A, PRSS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RHBDF2, RNF43, RPS20, RUNX1, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC, XRCC2, YAP1

SOPHiA DDM™ Hereditary Cancer Solution (HCS) v2.0

The panel includes a total of 83 biologically relevant genes associated with the most important cancer predisposition syndromes, together with enhanced regions for sequencing promoter regions in the APC, BRCA1, BRCA2, FAM157A, GREM1, MLH1, NTHL1, PTEN, SPINK1 and TERT genes.

The panel also includes specific probes for capturing SNPs, enabling sample traceability.

SOPHiA DDM™ Dx Hereditary Cancer Solution (HCS)

The CE-IVD-marked panel includes 26 genes and 1 pseudogene:

ABRAXAS1, APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL (pseudogene), PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, XRCC2.

SOPHiA GENETICS™ Custom Panel HCS_74 genes

Includes 74 genes associated with hereditary cancer, 1 pseudogene (PMS2CL), 13 SNPs and 2 promoter regions (APC and TERT).

Gene list:

ABCC9, ACD, AIP, AKAP9, AKT1, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CACNA1D, CACNB2, CDH1, CDK4, CDKN2A, CHEK2, CTNNA1, DES, DICER1, DSP, EPCAM, FAM175A/ABRAXAS1, FH, FLCN, GREM1, HABP2, HOXB13, KIF1B, MAX, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, PMS2CL, POLD1, POLE, POT1, PRKAR1A, PRSS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SCG5, SCN5A, SDHA, SDHAF2, SDHB, SDHC, SDHD, SGCD, SLC45A2, SMAD4, SMARCB1, STK11, SUFU, TERF2IP, TERT, TMEM127, TMEM43, TNNT2, TP53, TPM1, UTY, VCL, VHL, XRCC2

Operating Principle

These kits are based on targeted capture enrichment followed by sequencing on different NGS platforms. Secondary and tertiary analyses are performed using the SOPHiA DDM™ platform, which enables the detection of all types of genomic variants—including SNVs, indels and CNVs—with highly efficient clinical performance.

Clinical Applications

Hereditary cancer panel solutions are essential tools in clinical practice for identifying genetic alterations associated with cancer predisposition syndromes. These solutions enable efficient and accurate detection of the most relevant variants, facilitating rapid diagnosis and informed therapeutic decision-making.

By focusing on key mutations associated with different types of cancer, these panels provide a cost-effective and highly specific option for personalising patient prevention, monitoring and treatment, thereby improving clinical outcomes.

Benefits

Genomic variant assessment and reporting: SNVs, indels and CNVs, as well as more complex alterations such as Alu insertions, Boland inversion and the PMS2/PMS2CL gene conversion module, enabling variants to be distinguished between these two highly homologous genes. Data storage: Unlimited access to data on the SOPHiA DDM™ platform, in compliance with the highest encryption standards and data security policies. Support programme providing specialised assistance during implementation and follow-up for the rapid resolution of incidents. Comprehensive analysis through an integrated workflow, from library preparation to final report generation. Advanced analytical performance: Improves data interpretation through cascading filters, variant preclassification according to ACMG guidelines, integration with the leading genomic databases and additional tools such as the Alamut™ Visual Plus browser for more in-depth genomic analysis.

Intended Audience / User

For professional use by healthcare professionals to support clinical decisions related to cancer predisposition syndromes, assisting with diagnosis and genetic counselling in familial cases.

Key Features

Pre-designed panels validated by experts in cancer predisposition syndromes.

High coverage uniformity across the genomic regions included in each panel, ensuring advanced analytical performance.

Integrated detection of all variant types in a single experiment.

Efficient variant annotation using >55 databases, ACMG preclassification and machine-learning tools.

Streamlined interpretation limited to the genes of interest through virtual panel creation and cascading filters, through to the generation of a standardised clinical report.

Option to automate protocols for rapid clinical implementation and optimised sample management.

Area:

Hereditary cancer, Molecular Genetics, Targeted study of specific pathologies

Technology:

Next Generation Sequencing (NGS)

Brand:

SOPHIA Genetics

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