When uncommon, early-onset, or recurrent cancers occur within a family, it is recommended to study 89 key genes that may be associated with a hereditary origin of the disease.
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Cancer development is a multifactorial process driven by both genetic and environmental factors. A subset of individuals inherits pathogenic mutations that increase their lifetime cancer risk. Accurate identification of these mutations through high-resolution genetic testing enables clinicians to:
Recommend enhanced surveillance protocols
Offer risk-reducing interventions (e.g., prophylactic surgery, preventive chemotherapy)
Optimize therapeutic decisions for patients diagnosed with cancer
Facilitate cascade testing for at-risk family members
Test Panel Overview
Our comprehensive Hereditary Cancer Panel includes 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 recently identified in the literature with growing clinical utility
Genes covered: 89 genes
Analytical coverage: >99% of target regions at a sequencing depth >20x
Turnaround time: 10 calendar days
Methodology: Next-Generation Sequencing (NGS) with complementary Sanger sequencing for technically challenging regions when necessary
Variant interpretation: Performed in accordance with ACMG/AMP guidelines, ensuring consistent classification and clinical relevance
Reporting: Actionable results provided with evidence-based management recommendations
The following patient populations benefit the most from comprehensive genetic testing for hereditary cancer:
Individuals with a personal history of early-onset cancer (e.g., breast cancer diagnosed before the age of 50)
Patients with multiple primary cancers within the same organ system or related organ systems
Those with a family history of cancer consistent with hereditary patterns (e.g., multiple relatives with the same or related cancers across generations)
Patients who meet the criteria established by NCCN or ASCO for hereditary cancer testing
Patients with ethnic backgrounds associated with a higher prevalence of mutations (e.g., Ashkenazi Jewish ancestry)
Genetic testing results guide the application of personalized medicine, ensuring that both patients and healthcare professionals clearly understand the risk of hereditary cancer. 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 cancers with BRCA mutations)
Identification of at-risk family members eligible for cascade testing and preventive care
For patients with negative results or a variant of uncertain significance (VUS), risk assessment continues to be guided by family history and clinical factors, while ongoing research offers future opportunities for reclassification.
As oncology care increasingly embraces precision medicine, genetic testing for hereditary cancer has become an essential tool for comprehensive risk assessment, prevention, and personalized treatment. Our 89-gene hereditary cancer panel provides clinicians with a clinically validated, fast, and reliable platform to optimize patient care and clinical outcomes in high-risk populations.
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 evaluated genes. Pathogenic and likely pathogenic variants detected in these genes must be confirmed through orthogonal methods. Genetic variants classified as benign, likely benign, or of uncertain significance are not included in this report.
Homopolymeric regions and regions outside the coding areas cannot be captured using standard NGS target enrichment protocols. At this time, the assay does not detect large deletions or duplications. Additionally, this analysis cannot detect pathogenic variants within regions not analyzed (e.g., introns, promoter and enhancer regions, long repeat regions, and mitochondrial sequences).
This assay is not designed to detect mosaicism, complex genetic rearrangements, or genomic aneuploidy events. It is important to understand that there may be variants in these genes that are undetectable with current technology. Furthermore, there may be genes associated with specific pathologies whose clinical significance has not yet been definitively established. Therefore, the test may not detect all variants associated with a specific condition.
Variant interpretation is based on our current understanding of the genes included in this panel and on the current ACMG professional guidelines for germline sequence variant interpretation. Interpretations may change over time as more information becomes available regarding these genes. Qualified healthcare professionals should be aware that future reclassifications of genetic variants may occur as ACMG guidelines are updated.
Factors influencing the quantity and quality of extracted DNA include, but are not limited to, the collection technique, the number 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 as other interfering substances and matrix-dependent influences. PCR inhibitors, foreign DNA, and nucleic acid–degrading enzymes may negatively affect assay results.
This laboratory-developed test (LDT) was designed and its performance characteristics determined by our partner laboratory. The test was performed in our partner laboratory, which holds certifications (CLIA ID: 10D2210020 and CAP ID: 9101993) and is accredited 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). FDA clearance or approval is not required for the clinical use of this analytically and clinically validated laboratory test. This assay has been developed for clinical purposes and should not be considered for research use.
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