This is a genotype with recommended actions if clinically confirmed. In brief:
- Pancreatic Cancer/Melanoma Syndrome (PCMS) is a predisposition syndrome associated with an increased risk of developing malignant melanoma and/or pancreatic cancer.
- Semi-annual melanoma screening should begin at age 10 with a baseline total body skin examination including scalp, oral mucosa, genital area, and nails.
- Surveillance based on endoscopic ultrasound and/or MRI of the pancreas is recommended to be performed in experienced centers utilizing a multidisciplinary approach and under research conditions.
- The risk for developing pancreatic cancer in PCMS families with a known pathogenic variant in CDKN2A is increased 13- to 22- fold with some sources reporting a risk as high as 39 fold.
- PCMS mutation carriers are advised not to smoke.
The full ClinGen Actionability report about Pancreatic Cancer/Melanoma Syndrome (PCMS) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.