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CDKN2A mutations in multiple primary melanomas

J Monzon1, L Liu, H Brill

  • 1Institute of Medical Sciences, University of Toronto, ON, Canada.

The New England Journal of Medicine
|March 27, 1998
PubMed
Summary
This summary is machine-generated.

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Germ-line mutations in the CDKN2A gene are found in some patients with multiple primary melanomas, even without a family history. This suggests a genetic susceptibility to melanoma that may benefit family members through surveillance.

Area of Science:

  • Genetics
  • Oncology

Background:

  • Germ-line mutations in the CDKN2A tumor-suppressor gene are linked to inherited melanoma.
  • The role of CDKN2A mutations in sporadic melanoma, particularly in patients with multiple primary lesions, remains unclear.
  • Multiple primary melanomas suggest a potential underlying genetic susceptibility.

Purpose of the Study:

  • To investigate the hypothesis that germ-line CDKN2A mutations predispose individuals to sporadic melanoma.
  • To identify CDKN2A mutations in patients with multiple primary melanomas and no family history of the disease.

Main Methods:

  • Polymerase chain reaction, single-strand conformation polymorphism analysis, and direct DNA sequencing were used to detect germ-line CDKN2A mutations.
  • Quantitative yeast two-hybrid assay was employed to assess the functional significance of identified CDKN2A variants.

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Main Results:

  • Germ-line CDKN2A mutations were identified in 5 out of 33 (15%) patients with multiple primary melanomas and no family history.
  • Identified mutations included a 24-bp insertion, three missense mutations (Arg24Pro, Met53Ile, Ser56Ile), and a 2-bp deletion leading to a truncated protein.
  • CDKN2A mutations were confirmed in family members of affected individuals, revealing previously unrecognized melanoma family histories.

Conclusions:

  • Germ-line CDKN2A mutations are present in a subset of patients with multiple primary melanomas who lack a family history.
  • Multiple primary melanomas can indicate a genetic predisposition to melanoma in both the patient and their relatives.
  • Family members of individuals with multiple primary melanomas may benefit from melanoma surveillance programs.