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About Genetic Testing

What is involved with genetic testing for hereditary cancer risk?

Genetic testing for hereditary cancer risk looks for alterations in genes (units of DNA) which are associated with increased likelihood of developing certain cancer(s). Testing may involve looking at single gene(s) or at a group of genes under consideration (panel testing). Options for genetic testing are discussed during the genetic counseling visit. 

There are many genes know in association with hereditary cancer risk. Examples include genes associated with
  • Hereditary Breast and/or Ovarian cancer (BRCA1, BRCA2, among others),
  • Lynch Syndrome
  • A predisposition to developing many colon polyps and colon cancer (Familial Adenomatous Polyposis (FAP), MUTYH-Associated Polyposis)
  • Less common hereditary cancer syndromes (such as von Hippel-Lindau (VHL) syndrome)

Genetic testing is usually performed on a person’s blood or saliva sample. The sample is sent to a specialty genetics laboratory with a high level of experience in performing testing, analyzing the data and interpreting results.   

The testing laboratory sends the result report to your genetics provider. Once the report is received, your genetic counselor will provide you with your test results and discuss what results might mean for you and your family.

What is tumor (somatic) genetic testing?

All cancer is caused by gene mutations (significant gene alterations) in the cells of a person’s body. The majority of cancers are the result of random gene mutations that develop throughout a patient’s lifetime. Mutations may be due to environmental factors, such as aging, radiation or chemicals. These types of mutations are not passed on to the next generation.

Tumor genetic testing (genetic testing on the cancer sample) may be offered in certain circumstances for information which may impact a person’s cancer treatment if a targeted treatment is known and available.

A small percentage of results from tumor genetic testing may imply a higher likelihood of an associated hereditary gene alteration.