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Phenocopies in melanoma-prone families with germ-line CDKN2A mutations

Helgadottir, Hildur; Olsson, Håkan LU ; Tucker, Margaret A.; Yang, Xiaohong R.; Höiom, Veronica and Goldstein, Alisa M. (2018) In Genetics in Medicine 20(9). p.1087-1090
Abstract

Purpose: Carriers of CDKN2A mutations have high risks of melanoma and certain other cancers. In this study we examined the occurrence of tumors among CDKN2A wild type (wt) members of melanoma-prone families with CDKN2A mutations. Methods: Swedish and US melanoma-prone families with CDKN2A mutations were included. Data was collected on tumors diagnosed among family members. Among the CDKN2A mutated families, members with CDKN2A wt status who were diagnosed with melanoma were designated phenocopies. Results: Of patients with melanoma in the CDKN2A mutated families (n = 266), 7.1%, were seen among members with CDKN2A wt status (phenocopy rate). Among the CDKN2A wt family members of the CDKN2A mutated families (n = 256), 7.4% were diagnosed... (More)

Purpose: Carriers of CDKN2A mutations have high risks of melanoma and certain other cancers. In this study we examined the occurrence of tumors among CDKN2A wild type (wt) members of melanoma-prone families with CDKN2A mutations. Methods: Swedish and US melanoma-prone families with CDKN2A mutations were included. Data was collected on tumors diagnosed among family members. Among the CDKN2A mutated families, members with CDKN2A wt status who were diagnosed with melanoma were designated phenocopies. Results: Of patients with melanoma in the CDKN2A mutated families (n = 266), 7.1%, were seen among members with CDKN2A wt status (phenocopy rate). Among the CDKN2A wt family members of the CDKN2A mutated families (n = 256), 7.4% were diagnosed with melanoma. The prospective relative risk for melanomas was significantly higher among the CDKN2A wt subjects compared with population-based controls (7.4 (95% confidence interval 1.7–33.2)), while no elevated risks of nonmelanoma cancers were seen and their offspring did not have significantly elevated risks of melanoma or other cancers. Conclusion: Members of CDKN2A mutation carrying families who test negative for their family’s mutation have moderately increased risk for melanoma and should, in addition to being considered for continuing dermatologic surveillance, be encouraged to follow sun safety recommendations and practice skin self-exams.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Genetics in Medicine
volume
20
issue
9
pages
4 pages
publisher
Lippincott Williams & Wilkins
external identifiers
  • scopus:85053370942
ISSN
1098-3600
DOI
10.1038/gim.2017.216
language
English
LU publication?
yes
id
497d779a-a1a7-4929-bb6b-ba939402c5ce
date added to LUP
2018-10-12 13:26:52
date last changed
2019-01-06 14:09:54
@article{497d779a-a1a7-4929-bb6b-ba939402c5ce,
  abstract     = {<p>Purpose: Carriers of CDKN2A mutations have high risks of melanoma and certain other cancers. In this study we examined the occurrence of tumors among CDKN2A wild type (wt) members of melanoma-prone families with CDKN2A mutations. Methods: Swedish and US melanoma-prone families with CDKN2A mutations were included. Data was collected on tumors diagnosed among family members. Among the CDKN2A mutated families, members with CDKN2A wt status who were diagnosed with melanoma were designated phenocopies. Results: Of patients with melanoma in the CDKN2A mutated families (n = 266), 7.1%, were seen among members with CDKN2A wt status (phenocopy rate). Among the CDKN2A wt family members of the CDKN2A mutated families (n = 256), 7.4% were diagnosed with melanoma. The prospective relative risk for melanomas was significantly higher among the CDKN2A wt subjects compared with population-based controls (7.4 (95% confidence interval 1.7–33.2)), while no elevated risks of nonmelanoma cancers were seen and their offspring did not have significantly elevated risks of melanoma or other cancers. Conclusion: Members of CDKN2A mutation carrying families who test negative for their family’s mutation have moderately increased risk for melanoma and should, in addition to being considered for continuing dermatologic surveillance, be encouraged to follow sun safety recommendations and practice skin self-exams.</p>},
  author       = {Helgadottir, Hildur and Olsson, Håkan and Tucker, Margaret A. and Yang, Xiaohong R. and Höiom, Veronica and Goldstein, Alisa M.},
  issn         = {1098-3600},
  language     = {eng},
  month        = {09},
  number       = {9},
  pages        = {1087--1090},
  publisher    = {Lippincott Williams & Wilkins},
  series       = {Genetics in Medicine},
  title        = {Phenocopies in melanoma-prone families with germ-line CDKN2A mutations},
  url          = {http://dx.doi.org/10.1038/gim.2017.216},
  volume       = {20},
  year         = {2018},
}