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CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015-2020 : implications for novel national recommendations

Pissa, Maria ; Helkkula, Teo LU ; Appelqvist, Frida ; Silander, Gustav ; Borg, Åke LU ; Pettersson, Jenny ; Lapins, Jan ; Nielsen, Kari LU orcid ; Höiom, Veronica and Helgadottir, Hildur (2021) In Acta oncologica (Stockholm, Sweden) 60(7). p.888-896
Abstract

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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Acta oncologica (Stockholm, Sweden)
volume
60
issue
7
pages
9 pages
publisher
Taylor & Francis
external identifiers
  • pmid:33945383
  • scopus:85105340952
ISSN
1651-226X
DOI
10.1080/0284186X.2021.1914346
language
English
LU publication?
yes
id
1078a80b-c463-472c-a23c-3c8baed99489
date added to LUP
2021-05-31 09:43:46
date last changed
2024-04-20 06:42:05
@article{1078a80b-c463-472c-a23c-3c8baed99489,
  abstract     = {{<p>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 &lt;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 &lt; 0.001). The frequency of PVs ranged from 2.1% to 16.5% in families where the youngest case was ≥55 years or &lt;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 &lt; 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.</p>}},
  author       = {{Pissa, Maria and Helkkula, Teo and Appelqvist, Frida and Silander, Gustav and Borg, Åke and Pettersson, Jenny and Lapins, Jan and Nielsen, Kari and Höiom, Veronica and Helgadottir, Hildur}},
  issn         = {{1651-226X}},
  language     = {{eng}},
  month        = {{05}},
  number       = {{7}},
  pages        = {{888--896}},
  publisher    = {{Taylor & Francis}},
  series       = {{Acta oncologica (Stockholm, Sweden)}},
  title        = {{CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015-2020 : implications for novel national recommendations}},
  url          = {{http://dx.doi.org/10.1080/0284186X.2021.1914346}},
  doi          = {{10.1080/0284186X.2021.1914346}},
  volume       = {{60}},
  year         = {{2021}},
}