Genetics and Hereditary Cancers

CDKN2A

Appointment New Patient Appointment or 214-645-8300

Appointment New Patient Appointment or 214-645-8300

female melanoma patient

What You Should Know About CDKN2A Pathogenic/Likely Pathogenic Variants

Individuals with a pathogenic/likely pathogenic (P/LP) variant in the CDKN2A gene have an increased risk for melanoma and pancreatic cancer.

UT Southwestern Medical Center is home to one of the largest hereditary cancer programs in the nation, with extensive experience in working with individuals with CDKN2A pathogenic/likely pathogenic variants.

Cancer Risks Associated with a CDKN2A Mutation

Individuals with a CDKN2A P/LP variant have up to an 80% lifetime risk for melanoma, with risks varying based on geographic location. Individuals also have a greater than 15% lifetime risk for pancreatic cancer.

Managing Cancer Risks

UT Southwestern’s Genetic Cancer Prevention Clinic (GCPC) helps ensure people are receiving appropriate cancer surveillance and management based on their genetic testing results. For more information about the GCPC or to request an appointment, please call us at 214-645-2563.

Melanoma

  • Dermatologists work with patients to determine appropriate surveillance and risk management.
  • Our specialists follow recommendations from the National Comprehensive Cancer Network (NCCN), including:
    • Comprehensive skin exam twice a year, supplemented with total-body photography and dermoscopy
    • Appropriate treatment and follow-up based on findings

Pancreatic Cancer

  • Specialists at the UT Southwestern Pancreatic Cancer Prevention Clinic work with patients to create a personalized surveillance and risk management plan for hereditary pancreatic cancer.
  • Our specialists follow NCCN recommendations, including:

Other Cancers

  • UT Southwestern experts from other specialties, such as internal medicine or surgical oncology, may also be an important part of the care team.
  • Additional surveillance or management recommendations might include:
    • Additional screenings or earlier ages of screenings, depending on personal risk factors and family history

Risks to Family Members

P/LP variants in the CDKN2A gene are inherited in an autosomal dominant fashion. This means that children, brothers, sisters, and parents of individuals with a CDKN2A P/LP variant have a 1 in 2 (or 50%) chance of having the P/LP variant as well. Both males and females can inherit a familial CDKN2A P/LP variant, and both males and females can pass it on to their children.