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Sökning: onr:"swepub:oai:lup.lub.lu.se:497d779a-a1a7-4929-bb6b-ba939402c5ce" > Phenocopies in mela...

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

Helgadottir, Hildur, (författare)
Karolinska University Hospital, Karolinska Institutet
Olsson, Håkan, (författare)
Forskargrupper vid Lunds universitet, Lund University Research Groups, Lunds universitet, Lund University, Lunds Melanomstudiegrupp, Lund Melanoma Study Group, Skåne University Hospital
Tucker, Margaret A., (författare)
National Cancer Institute, USA
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Yang, Xiaohong R., (författare)
National Cancer Institute, USA
Höiom, Veronica, (författare)
Karolinska University Hospital, Karolinska Institutet
Goldstein, Alisa M., (författare)
National Cancer Institute, USA
Helgadottir, H, (författare)
Karolinska Institutet
Olsson, H (författare)
Tucker, MA (författare)
Yang, XHR (författare)
Hoiom, V, (författare)
Karolinska Institutet
Goldstein, AM (författare)
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2018
Engelska 4 s.
Ingår i: Genetics in Medicine. - Lippincott Williams & Wilkins. - 1098-3600. ; 20:9, s. 1087-1090
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

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