The great majority of cancers arise from (somatic) changes acquired during life. In about 5 to 10% of cases, however, the person carries an inherited gene change that markedly increases cancer risk. Hereditary cancer panels examine such changes together using next-generation sequencing.
Who is genetic testing recommended for?
- Cancer diagnosed at an early age (e.g. under 50)
- More than one primary cancer in the same person
- Clustering of the same or related cancer types in close relatives
- A known cancer predisposition mutation in the family
- Certain tumor types (e.g. triple-negative breast cancer, ovarian cancer, male breast cancer)
What does the result mean?
Detection of a pathogenic variant means an increased lifetime risk for the relevant cancer(s), and brings more frequent or earlier screening, risk-reducing approaches and test planning for family members onto the agenda. A variant of uncertain significance (VUS) is not used on its own in clinical decisions. A negative result does not eliminate risk entirely if the family history is strong.
Panel selection and interpretation of results should be done together with a medical genetics specialist and a genetic counselor.
