Cancer Risk Genetic Testing

Abstract

Understanding your genetic predisposition to health risks is a powerful tool for prevention and personalized healthcare.  Genetic analysis can uncover insights into your likelihood of developing cancer. 

 Applications

• Cancer Risk: Mutations in genes like BRCA1 and BRCA2 significantly increase the risk of breast and ovarian cancers.  Women with these gene mutations may opt for increased cancer screenings or even preventive surgeries to lower their risk.
• Early Detection: Genetic testing can identify your predisposition to diseases long before symptoms appear.  Early detection allows for timely interventions, such as increasing screening frequency or making dietary and exercise adjustments, to catch potential problems before they become serious.
• Targeted Therapies: For diseases like cancer,where specific gene mutations are involved, targeted therapies can be used to directly address the genetic abnormalities, leading to more effective treatment outcomes.  For example, women with BRCA mutations may be eligible for targeted cancer therapies designed for those specific mutations.

Genes tested (70 genes):

AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EGFR, EPCAM, FH, FLCN, GREM1, HOXB13, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL

Test details:

Our Multi-Cancer screening evaluates genes linked to an increased risk of cancers that typically develop in adults and are not associated with specific syndromes. This test covers a range of organ systems, including but not limited to the breasts, reproductive organs (ovarian, uterine/endometrial), gastrointestinal tract (colorectal, gastric, pancreatic), endocrine system (thyroid, parathyroid, pituitary, adrenal glands), urinary system (renal/urinary tract, prostate), skin (melanoma, basal cell carcinoma), and the brain/nervous system. Due to the genetic complexity of these cancers, relying solely on physical symptoms to identify a cause can be challenging. Additionally, some of the genes analyzed may be linked to other unrelated conditions, which are not part of this screening. By detecting germline mutations, our test can support a clinical cancer diagnosis, offer insights into the likely course and outcome of the disease, enable earlier symptom identification, guide decisions about family planning and genetic counseling, and identify eligibility for clinical research studies. This test is not suitable for identifying somatic mutations in tumor samples.