CancerCheck+
Prioritize 89 key genes if there's a family history indicating a potential hereditary link to cancer, like early-onset, rare, bilateral, or multiple primary cancers among family members.
Hereditary cancer syndromes contribute to a significant proportion of cancer cases, particularly in patients with strong familial histories or early-onset disease. Genetic testing plays a pivotal role in identifying individuals within herited predispositions to cancer, thereby enabling personalized preventive strategies, enhanced surveillance, and tailored treatment plans. Our HereditaryCancer Testing offers comprehensive genetic screening covering 89 clinically relevant genes, including BRCA1, BRCA2, and other high-risk markers implicated in hereditary cancers such as breast, ovarian, colorectal, pancreatic, and others.
Cancer development is a multifactorial process driven by genetic and environmental factors. A subset of individuals inherits pathogenic mutations that significantly elevate their lifetime cancer risk. Accurate identification of these mutations through high-resolution genetic testing empowers clinicians to:
* Recommend intensified surveillance protocols
* Offer risk-reducing interventions (e.g., prophylactic surgery, chemo prevention)
* Optimize therapeutic decisions for patients diagnosed with cancer
* Facilitate cascade testing of at-risk relatives
Testing Panel Overview
Our comprehensive hereditary cancer panel encompasses 89 genes implicated in hereditary cancer syndromes, including:
- High-penetrance genes: BRCA1, BRCA2, TP53, PTEN, MLH1, MSH2, MSH6,PMS2, APC
- Moderate-risk genes: CHEK2, ATM, PALB2
- Emerging markers: Genes identified in recent literature with growing clinical utility
* Genes Covered: 89 genes
* Analytical Coverage: >99% of target regions at >20x sequencing depth
* Turnaround Time: 10 calendar days
* Methodology: Next-generation sequencing (NGS) with supplemental coverage using Sanger sequencing for technically challenging regions if necessary
* Variant Interpretation: Performed according to ACMG/AMP guidelines, ensuring classification consistency and clinical relevance
* Reporting: Actionable findings provided with evidence-based management recommendations
The following patient populations benefit most from comprehensive hereditarycancer genetic testing:
- Individuals with a personal history of early-onset cancer (e.g.,breast cancer diagnosed before age 50)
- Patients with multiple primary cancers in the same or related organ systems
- Those with family histories of cancer consistent with hereditary patterns (e.g., multiple relatives with the same or related cancers acrossgenerations)
- Patients meeting established NCCN or ASCO criteria for hereditary cancer testing
- Patients with ethnic backgrounds associated with elevated mutation prevalence (e.g., Ashkenazi Jewish ancestry)
Genetic testing results guide the delivery of personalized medicine,ensuring that both patients and their healthcare providers have a clearunderstanding of hereditary cancer risk. Positive findings enable:
* Earlier and more frequent cancer screening
* Consideration of risk-reducing surgeries (mastectomy, oophorectomy, colectomy)
* Targeted therapeutic strategies (e.g., PARP inhibitors for BRCA-mutated cancers)
* Identification of at-risk relatives eligible for cascade testing and preventive care
* For patients with negative or variant of uncertain significance (VUS)results, risk remains guided by family history and clinical factors, withongoing research offering future reclassification opportunities.
As cancer care increasingly embraces precision oncology, hereditary cancer genetic testing has become an essential tool in comprehensive risk assessment, prevention, and personalized treatment. Our 89 genes hereditary cancer panel offers clinicians a clinically validated, rapid, and reliable platform to enhance patient care and improve clinical outcomes in high-risk populations.
The Hereditary Cancer Panel is designed to detect single nucleotide variants (SNVs) and small insertions and deletions in 89 genes associated with neurological risk. Targeted regions for this panel include the coding exons and 10 bp intronic sequences immediate to the exon-intron boundary of each coding exon in each of these genes. Extracted patient DNA is prepared using targeted hybrid capture, assignment of a unique index, and sequencing via Illumina sequencing by synthesis (SBS) technology. Data is aligned using human genome build GRCh37. Variant interpretation is performed according to current American College of Medical Genetics and Genomics (ACMG) professional guidelines for the interpretation of germline sequence variants using Fabric EnterpriseTM Pipeline6.6.15. Variant interpretation and reporting is performed by Fabric Clinical (CLIA ID: 45D2281059 and CAP ID: 9619501). The following quality filters are applied to all variants: quality <500, allelic balance <0.3, coverage <10x.
APC, ATM, BRCA1, BRCA2, CDH1, CDKN2A, EPCAM, FANCC, FH, HNF1A, HRAS, KIT, MAX, MEN1, MLH1, MSH2, MSH6, MUTYH, NF1, NF2, NSD1, PALB2, PHOX2B, PMS2 PTEN, RET, RUNX1, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, WT1, BARD1, BRIP1, CHEK2, MBD4, MHS3, NTHL1, POLD1, RAD51D BMPR1A, CTNNA1, GREM1, POLE, AXIN2, BAP1, CDK4, DICER1, PDGFRA, SMARCA4, RAD51C, HOXB13, TERT, COL1A1, BLM, FBN1, MITF, NBN, AIP, ALK, CDC73, DKN1B CDKN1C, CEBPA, CYLD, DDX41, EGFR, EXT1, EXT2, FLCN, GATA2, LZTR1, MET, POT1, PRKAR1A, PTCH1, RB1, RHBDF2, SDHAF2, SMARCB1, SMARCE1, SUFU
This test aims to detect all clinically relevant variants within the coding regions of the genes evaluated. Pathogenic and likely pathogenic variants detected in these genes should be confirmed by orthogonal methods. Detected genetic variants classified as benign, likely benign, or of uncertain significance are not included in this report. Homopolymer regions and regions outside of the coding regions cannot be captured by the standard NGS target enrichment protocols. At this time, the assay does not detect large deletions and duplications. This analysis also cannot detect pathogenic variants within regions which were not analyzed (e.g., introns, promoter and enhancer regions, long repeat regions, and mitochondrial sequence). This assay is not designed to detect mosaicism and is not designed to detect complex gene rearrangements or genomic aneuploidy events. It is important to understand that there may be variants in these genes undetectable using current technology. Additionally, there may be genes associated with specified disease pathology whose clinical association has not yet been definitively established. The test may therefore not detect all variants associated with specified disease pathology. The interpretation of variants is based on our current understanding of the genes in this panel and is based on current ACMG professional guidelines for the interpretation of germline sequence variants. Interpretations may change over time as more information about the genes in this panel becomes available. Qualified health care providers should be aware that future reclassifications of genetic variants can occur as ACMG guidelines are updated. Factors influencing the quantity and quality of extracted DNA include, but are not limited to, collection technique, the amount of buccal epithelial cells obtained, the patient’s oral hygiene, and the presence of dietary or microbial sources of nucleic acids and nucleases, as well other interfering substances and matrix-dependent influences. PCR inhibitors, extraneous DNA, and nucleic acid degrading enzymes may adversely affect assay results.
This laboratory developed test (LDT) was developed and its performance characteristics were determined by PreCheck HealthServices, Inc. This test was performed at PreCheck Health Services, Inc. (CLIA ID: 10D2210020 and CAP ID: 9101993) that is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity testing. This assay has not been cleared or approved by the U.S. Food and Drug Administration (FDA). Clearance or approval by the FDA is not required for the clinical use of this analytically and clinically validated laboratory developed test. This assay has been developed for clinical purposes and it should not be regarded as investigational or for research.
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