Group Hereditary melanoma FAMMM syndrome CDKN2A mutation Clinical management
Group 1   CDKN2A-specific recommendations
  • Genetic counselling and encourage screening of family members
  • Education on skin protection
  • three to six-monthly skin checks, including scalp, oral and genital mucosa from puberty onwards
  • Suspicious lesions should be reviewed regularly with the use of total body photography and/or dermoscopy and have a lower threshold for biopsies
  • Advice to stop smoking
  • Education on possibility of increased pancreatic cancer risk ± regular screening
FAMMM syndrome-specific recommendations
  • Advice that in FAMMM syndrome lesions may arise from melanocytic naevi and from normal skin
  • Skin checks to pay extra attention to the trunk
Y Y Y
 
Group 2  
  • Genetic counselling ± the offer of further testing for other high to intermediate penetrance genes
Same as Group 1, including the recommendations for CDKN2A-specific recommendations, except without the education regarding pancreatic cancer risk
Y Y N
Group 3  
  • Same as Group 1 but without the FAMMM syndrome-specific recommendations
Y N Y
 
 
Group 4  
  • Education on skin protection
  • six to 12-monthly skin checks
  • Suspicious lesions should be reviewed regularly and have a lower threshold for biopsies
Y N N