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From SNPedia
Pancreatic cancer/Melanoma Syndrome
Is agenotype
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 7 Pancreatic cancer/Melanoma Syndrome

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.