HEREDITARY CANCERS ACCOUNT FOR 5-10% OF ALL CANCERS

GENETIC TESTING CAN AID IN DIAGNOSIS AND IDENTIFY AT-RISK PATIENTS

Inherited genetic mutations can increase a person’s risk of developing cancer through a variety of mechanisms, depending on the function of the gene.  Mutations in genes that control cell growth and the repair of damaged DNA are particularly likely to be associated with increased cancer risk.  The genetic mutations that cause many of the known hereditary cancer syndromes have been identified, and genetic testing can confirm whether a condition is, indeed, the result of an inherited syndrome.  Genetic testing is also done to determine whether family members without obvious illness have inherited the same mutation as a family member who is known to carry a cancer-associated mutation.

So what does a positive result mean? A positive result is not a diagnosis of cancer, nor does it mean that the patient will be diagnosed with cancer. A positive result simply means that a patient is genetically predisposed to a higher risk of being diagnosed with cancer than the general population. Having this information in hand, a clinician can be more diligent in the use of screening and detection techniques, with the hope of an earlier detection if cancer were to appear, leading to a more favorable prognosis for the patient.

COMPREHENSIVE INHERITED CANCER GENE TESTS – 39 GENES

APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKn2A, CHEK2, ELAC2, EPCAM, FANCC, HRAS1, MEN1, MET, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NTRK1, PALB2, PALLD, PMS2, PTCH, PTEN, RAD50, RAD51, RAD51C, RAD51D, RET, SMAD4, STK11, TP53, VHL

BREAST AND OVARIAN CANCER – 18 GENES

ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MSH2, MSH6, NBN, PALB2, PTEN, RAD51C, RAD51D, RET, STK11, TP53, VHL

COLORECTAL, ENDOMETRIAL AND OVARIAN CANCER – 12 GENES

APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, PMS2, SMAD4, STK11

LYNCH SYNDROME – 5 GENES

EPCAM, MLH1, MSH2, MSH6, PMS2