Your browser doesn't support javascript.
loading
CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015-2020: implications for novel national recommendations.
Pissa, Maria; Helkkula, Teo; Appelqvist, Frida; Silander, Gustav; Borg, Åke; Pettersson, Jenny; Lapins, Jan; Nielsen, Kari; Höiom, Veronica; Helgadottir, Hildur.
Afiliación
  • Pissa M; Department of Dermatology and Venereology, Ryhov County Hospital, Jönköping, Sweden.
  • Helkkula T; Department of Clinical Sciences, Division of Dermatology, Lund University Skin Cancer research group, Lund University, Lund, Sweden.
  • Appelqvist F; Department of Dermatology, Skåne University Hospital, Lund, Sweden.
  • Silander G; Department of Dermatology, Institute of Clinical Sciences, Sahlgrenska University Hospital, Göteborg, Sweden.
  • Borg Å; Department of Radiation Sciences, Division of Oncology, Umeå University, Umeå, Sweden.
  • Pettersson J; Division of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
  • Lapins J; Department of Oncology, Ryhov County Hospital, Jönköping, Sweden.
  • Nielsen K; Department of Dermatology, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.
  • Höiom V; Department of Clinical Sciences, Division of Dermatology, Lund University Skin Cancer research group, Lund University, Lund, Sweden.
  • Helgadottir H; Department of Dermatology, Skåne University Hospital, Lund, Sweden.
Acta Oncol ; 60(7): 888-896, 2021 Jul.
Article en En | MEDLINE | ID: mdl-33945383
Background: Inherited pathogenic variants (PVs) in the CDKN2A gene are among the strongest known risk factors for cutaneous melanoma. Carriers are at high risks to develop multiple primary melanomas and other cancers, in particular pancreatic cancer. In this study, the CDKN2A testing, carried out in Sweden in the years 2015-2020, was evaluated.Materials and methods: Included families had (1) three or more cases of melanoma and/or pancreatic cancer, (2) two melanomas in first-degree relatives, the youngest case <55 years or (3) individuals with three or more multiple primary melanomas, the first before the age of 55 years, and no other affected family members. The included families had at least one affected member that had been tested for CDKN2A PVs.Results: In total, 403 families were included, whereof 913 family members had been diagnosed with cutaneous melanoma and 129 with pancreatic cancer, 33 (8.2%) were found to have PVs in CDKN2A. Frequencies ranged from 0.9% in families with only two melanomas to 43.2% in families with three or more melanoma cases and pancreatic cancer (p < 0.001). The frequency of PVs ranged from 2.1% to 16.5% in families where the youngest case was ≥55 years or <35 years (p = 0.040). In families with or without CDKN2A PVs, 37.6% and 10.0% had melanoma cases that had died from melanoma, respectively (p < 0.001).Discussion: Significant differences were seen in the frequencies of CDKN2A PVs, dependent on numbers or age at diagnosis of melanomas and diagnoses of pancreatic cancers in the family. Further, melanoma cases belonging to families that tested positive for CDKN2A PVs had a significantly higher mortality. To summarize, the current evaluation shows that, with adequately selected criteria to guide genetic testing, CDKN2A PVs are identified at significant frequencies. Identification of carrier families is of importance to ensure that members are enrolled in a preventive surveillance program.
Asunto(s)
Palabras clave

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Melanoma Tipo de estudio: Diagnostic_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Acta Oncol Asunto de la revista: NEOPLASIAS Año: 2021 Tipo del documento: Article País de afiliación: Suecia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Cutáneas / Melanoma Tipo de estudio: Diagnostic_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Acta Oncol Asunto de la revista: NEOPLASIAS Año: 2021 Tipo del documento: Article País de afiliación: Suecia