Unveiling Cancer Susceptibility: Genetic Testing for Inherited Mutations and Risk Assessment
Various panels are available, which screen up to 99 genes for cancer susceptibility. Genes included in these panels may be associated with several different types of cancer and with varying levels of cancer risk.
All genes in this panel have been implicated in cancer predisposition and are associated with increased lifetime cancer risk(s), although a patient’s overall risk may differ depending on the gene and the mechanism of the associated condition. If a patient is found to carry a mutation/variant in any of the genes analyzed, this may also have implications for the patient’s family members, which should be discussed with the healthcare provider.
Specimen requirements: A buccal (cheek) swab provided by Genesys Diagnostics (OraCollect Dx; DNA Genotek Buccal Swab), or a whole blood sample (~5 mL) in a lavender top (K2EDTA) collection tube.
Possible Results
Positive: A mutation has been identified in a gene or genes associated with increased cancer susceptibility. This may indicate that the patient is at an increased risk of developing cancer, with the specific type of cancer depending on the genes involved. The healthcare provider will make cancer screening and medical management recommendations based on what is known about the gene in which the mutation was found.
Negative: No clinically significant mutations have been identified in the genes that were tested. This indicates that the patient is not at increased risk for inherited cancers linked to those genes. Depending on the patient's personal and family history of cancer, they may still be at risk for developing other cancers in their lifetime. The patient’s healthcare provider will make cancer screening and medical management recommendations based on the patient’s personal and family history.
Variant: A variant or mutation has been identified in one or more genes; however, there is not enough information currently available about that variant or mutation to determine whether it is associated with an increased risk of cancer. The patient’s healthcare provider will make cancer screening and medical management recommendations based on the patient’s personal and family history.
Hereditary Cancer Panels
Click each gene for more information
Breast Cancer Panel (19 genes): ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC, FANCM, MUTYH, NF1, PALB2, PTEN, RAD51C, RAD51D, SDHB, SDHD, STK11, TP53
Breast and Gynecological Panel (33 genes): ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, EZH2, FANCC, FANCM, FH, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PRKAR1A, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, STK11, TP53
Colorectal and Gastric Cancer Panel (43 genes): APC, ATM, BLM, BMPR1A, BUB1B, BRCA1, BRCA2, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEP57, CHEK2, EPCAM, FANCC, FLCN, GNAS, GPC3, KIT, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NSD1, PALB2, PMS2, POLD1, POLE, PTEN, RHBDF2, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, VHL
Renal/Urinary Tract Cancer Panel (39 genes): ATM, BAP1, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDKN1C, CEP57, CHEK2, DICER1, DIS3L2, EPCAM, FANCA, FH, FLCN, GPC3, HRAS, MET, MLH1, MSH2, MSH6, NBN, NSD1, PALB2, PMS2, PTEN, RAD51D, SDHA, SDHB, SDHC, SDHD, SMARCB1, TMEM127, TP53, TSC1, TSC2, VHL, WT1
Common Hereditary Cancer Panel (41 genes): APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, KIT, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, TSC1, TSC2, VHL
Nervous System and Endocrine Cancer Panel (44 genes): AIP, ALK, APC, BAP1, CDC73, CDKN1B, CDKN1C, CHEK2, DICER1, EPCAM, EZH2, FH, GNAS, GPC3, HRAS, MAX, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, NSD1, PHOX2B, PMS2, PRKAR1A, PTCH1, PTEN, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMARCB1, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN
Full Hereditary Cancer Panel (99 genes): AIP, ALK, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2, EGFR, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GNAS, GPC3, HRAS, KIT, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NSD1, PALB2, PHOX2B, PMS2, POLD1, POLE, PRF1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC
The best protection is early detection
Our advanced genetic testing is designed to identify inherited mutations that increase the likelihood of developing certain cancers, such as breast, ovarian, colorectal, and pancreatic cancer. With accurate and reliable results, we empower individuals and their healthcare providers to make informed decisions about cancer screening, prevention, and treatment. Contact us today to learn more about our hereditary cancer testing services and take control of your health.
Our Hereditary Cancer Comprehensive panel includes 99 genes with increased risk for blood, breast, gastrointestinal, lung, skin, neurological/endocrine, pancreatic, renal, and reproductive. This panel is designed to optimize diagnostic yield for patients with a personal or family history of cancer. The genes on this panel have defined medical management strategies or are well established in the medical literature.
Cancer types other than those listed in the column headers may be covered. Please inquire for details.
Each Genesys Diagnostics hereditary cancer panel is designed to optimize diagnostic yield for patients with a personal or family history of cancer. The genes on these panels have defined medical management strategies or are well established in the medical literature.
Turnaround time for this test is 3-6 weeks after prior authorization.
Limitations: APC Promoter Region 1A and 1B are not covered by the Illumina Canadian Consortia Inherited Cancer (20011891), and therefore, are not included in the panel. All genes that have pseudogenes will have poorer performance on the MiSeq instrument. PMS2 Exon 15, specifically, does not have consistent coverage that meets our minimum threshold and therefore, is not included in this panel. Variants in pseudogene regions may not be reliably detected. DNA alterations not in regions covered by this test will not be detected using Next Generation Sequencing analysis. There are technical limitations on the ability of Next Generation Sequencing to detect small insertions and deletions and these types of alterations are not detected as reliably as single nucleotide variants. This assay is not designed or validated for the detection of low level mosaicism or somatic mutations. This assay will not detect certain types of genomic aberrations such as translocations, inversions, or repeat expansions. Large deletions or duplications may be identified, but not guaranteed to be detected by this test. Rare diagnostic errors can result from incorrectly assigned family relationships (e.g. non paternity) or DNA alterations (e.g. DNA variant under a primer or probe binding site and the presence of pseudogene artifacts). Additionally, it is possible that a particular genetic abnormality may not be recognized as the underlying cause of genetic disorder dur to incomplete scientific knowledge about the function of all genes in the human genome and the impact of variants in those genes.
