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CDKN2A genetic test...
CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015–2020 : implications for novel national recommendations
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- Pissa, Maria (author)
- Department of Dermatology and Venereology, Ryhov County Hospital, Jönköping, Sweden
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- Helkkula, Teo (author)
- Lund University,Lunds universitet,Dermatologi och venereologi, Lund,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Dermatology and Venereology (Lund),Section III,Department of Clinical Sciences, Lund,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Skåne University Hospital
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- Appelqvist, Frida (author)
- Department of Dermatology, Institute of Clinical Sciences, Sahlgrenska University Hospital, Göteborg, Sweden
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- Silander, Gustav (author)
- Umeå University,Umeå universitet,Onkologi
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- Borg, Åke (author)
- Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Department of Clinical Sciences, Lund,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Pettersson, Jenny (author)
- Department of Oncology, Ryhov County Hospital, Jönköping, Sweden
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- Lapins, Jan (author)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital
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- Nielsen, Kari (author)
- Lund University,Lunds universitet,Dermatologi och venereologi, Lund,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Hudcancerforskning vid Lunds universitet,Forskargrupper vid Lunds universitet,Dermatology and Venereology (Lund),Section III,Department of Clinical Sciences, Lund,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,LUSCaR- Lund University Skin Cancer Research group,Lund University Research Groups,Helsingborg Hospital,Skåne University Hospital
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- Höiom, Veronica (author)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital
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- Helgadottir, Hildur (author)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital
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(creator_code:org_t)
- Taylor & Francis Group, 2021
- 2021
- English.
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In: Acta Oncologica. - : Taylor & Francis Group. - 0284-186X .- 1651-226X. ; 60:7, s. 888-896
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- CDKN2A
- Familial melanoma
- genetic testing
- multiple primary melanoma
- mutations
- pancreatic cancer
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Pissa, Maria
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Helkkula, Teo
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Appelqvist, Frid ...
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Silander, Gustav
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Borg, Åke
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Pettersson, Jenn ...
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show more...
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Lapins, Jan
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Nielsen, Kari
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Höiom, Veronica
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Helgadottir, Hil ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Acta Oncologica
- By the university
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Umeå University
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Lund University
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Karolinska Institutet