Melanoma pp 583-597 | Cite as

Genetic Counseling

  • Kelly Jo Hamman
  • Wendy Kohlmann
  • Sancy LeachmanEmail author
Reference work entry


Since the first international consensus paper in 2009, genetic counseling and testing options for melanoma have progressed rapidly. The number of known high-penetrance genes has expanded from P16/CDKN2A, P14arf/CDKN2A, and CDK4, to include BAP1, and several telomere-related genes, including TERT, POT1, ACD, and TERF21P. In addition, moderate- and low-penetrance genes have been added to MC1R as contributors to overall risk for melanoma, including: MITF, HERC2/OCA2, TYR, TYRP1, SLC45A2, and ASIP. Besides these genes that increase the inherited risk for melanoma, there are other genes that have well-established roles as high-penetrance genes for other cancer syndromes that appear to also serve as less-penetrant melanoma predisposition genes as well. These other cancer predisposition genes include BRCA1, BRCA2, PTEN, and CHEK2. (The xeroderma pigmentosum spectrum genes are not included in this chapter because genetic counseling for this subset of disorders requires additional considerations specific to the syndrome.) This chapter reviews the data supporting high-, moderate- and low-penetrance genes as relevant melanoma susceptibility genes, suggests a standardized protocol for risk assessment, and presents referral criteria for genetic assessment. The chapter also reviews rapidly progressing genetic testing technologies with an emphasis on selecting the most appropriate test and tailoring the testing process to each individual. Finally, a discussion of nuances related to genetic test interpretation, insurance discrimination, and the unique impact that genetic testing can have on individuals and society is explored.


Melanoma Genetics Counseling Testing FAMMM Inherited Familial Predisposition Susceptibility 


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Kelly Jo Hamman
    • 1
  • Wendy Kohlmann
    • 2
  • Sancy Leachman
    • 3
    Email author
  1. 1.Department of Molecular and Medical GeneticsOregon Health and Science UniversityPortlandUSA
  2. 2.Huntsman Cancer Institute, University of UtahSalt Lake CityUSA
  3. 3.Department of DermatologyOregon Health and Science UniversityPortlandUSA

Section editors and affiliations

  • Keith T. Flaherty
    • 1
  • Boris C. Bastian
    • 2
  • Hensin Tsao
    • 3
    • 4
  • F. Stephen Hodi
    • 5
    • 6
  1. 1.Henri and Belinda Termeer Center for Targeted TherapiesMGH Cancer CenterBostonUSA
  2. 2.UCSF Helen Diller Family Comprehensive Cancer CenterSan FranciscoUSA
  3. 3.AuburndaleUSA
  4. 4.Harvard-MIT Health Sciences and TechnologyCambridgeUSA
  5. 5.FraminghamUSA
  6. 6.Department of Medicine, Brigham and Women's HospitalDana-Farber Cancer InstituteBostonUSA

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