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CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015–2020: implications for novel national recommendations
Department of Dermatology and Venereology, Ryhov County Hospital, Jönköping, Sweden.
Department of Clinical Sciences, Division of Dermatology, Lund University Skin Cancer research group, Lund University, Lund, Sweden; Department of Dermatology, Skåne University Hospital, Lund, Sweden.
Department of Dermatology, Institute of Clinical Sciences, Sahlgrenska University Hospital, Göteborg, Sweden.
Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.
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2021 (Engelska)Ingår i: Acta Oncologica, ISSN 0284-186X, E-ISSN 1651-226X, Vol. 60, nr 7, s. 888-896Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

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.

Ort, förlag, år, upplaga, sidor
Taylor & Francis Group, 2021. Vol. 60, nr 7, s. 888-896
Nyckelord [en]
CDKN2A, Familial melanoma, genetic testing, multiple primary melanoma, mutations, pancreatic cancer
Nationell ämneskategori
Cancer och onkologi
Identifikatorer
URN: urn:nbn:se:umu:diva-183591DOI: 10.1080/0284186X.2021.1914346ISI: 000646986900001PubMedID: 33945383Scopus ID: 2-s2.0-85105340952OAI: oai:DiVA.org:umu-183591DiVA, id: diva2:1558461
Tillgänglig från: 2021-05-31 Skapad: 2021-05-31 Senast uppdaterad: 2023-03-24Bibliografiskt granskad

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Silander, Gustav

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