{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T23:00:30Z","timestamp":1779145230557,"version":"3.51.4"},"reference-count":51,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T00:00:00Z","timestamp":1741737600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008730","name":"Kreftforeningen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008730","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["febs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molecular Oncology"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:p>\n                    Germline pathogenic variants in\n                    <jats:italic>CDKN2A<\/jats:italic>\n                    are well established as an underlying cause of familial malignant melanoma. While pathogenic variants in other genes have also been linked to melanoma, most familial cases remain unexplained. We assessed pathogenic germline variants in 360 cancer\u2010related genes in 56 Norwegian melanoma\u2010prone families. The index cases were selected based on familial history of melanoma and\/or multiple primary melanomas, along with previous negative tests for pathogenic\n                    <jats:italic>CDKN2A<\/jats:italic>\n                    variants. We found 6 out of 56 index individuals to carry germline pathogenic or likely pathogenic variants in\n                    <jats:italic>BRCA2<\/jats:italic>\n                    ,\n                    <jats:italic>MRE11<\/jats:italic>\n                    ,\n                    <jats:italic>ATM<\/jats:italic>\n                    ,\n                    <jats:italic>MSH2<\/jats:italic>\n                    ,\n                    <jats:italic>CHEK2<\/jats:italic>\n                    , and\n                    <jats:italic>AR<\/jats:italic>\n                    . One family member with melanoma (not index case) carried a pathogenic variant in\n                    <jats:italic>MAP3K6<\/jats:italic>\n                    . In addition, we found a high fraction of variants previously considered benign and\/or as variants of uncertain significance in xeroderma pigmentosum\u2010related genes. In particular,\n                    <jats:italic>XPC<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>L48F<\/jats:italic>\n                    <\/jats:sup>\n                    was found in 8 indexes; thus, the allele fraction (0.07) was significantly higher than in comparable healthy populations (0.02\u20130.03;\n                    <jats:italic>P<\/jats:italic>\n                    \u2010values from 0.007 to 0.014). In conclusion, we found that several melanoma\u2010prone families have pathogenic variants in genes not usually linked to melanoma.\n                  <\/jats:p>","DOI":"10.1002\/1878-0261.70020","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T09:30:37Z","timestamp":1741771837000},"page":"1493-1507","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Germline variants in\n                    <i>CDKN2A<\/i>\n                    wild\u2010type melanoma prone families"],"prefix":"10.1002","volume":"19","author":[{"given":"Gjertrud T.","family":"Iversen","sequence":"first","affiliation":[{"name":"Department of Clinical Science, K.G. Jebsen Center for Genome\u2010Directed Cancer Therapy University of Bergen  Bergen Norway"},{"name":"Department of Oncology Haukeland University Hospital  Bergen Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Loeng","sequence":"additional","affiliation":[{"name":"Department of Oncology Akershus University Hospital  L\u00f8renskog Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amalie Lund","family":"Holth","sequence":"additional","affiliation":[{"name":"Department of Oncology Akershus University Hospital  L\u00f8renskog Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Per E.","family":"L\u00f8nning","sequence":"additional","affiliation":[{"name":"Department of Clinical Science, K.G. Jebsen Center for Genome\u2010Directed Cancer Therapy University of Bergen  Bergen Norway"},{"name":"Department of Oncology Haukeland University Hospital  Bergen Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6239-3856","authenticated-orcid":false,"given":"J\u00fcrgen","family":"Geisler","sequence":"additional","affiliation":[{"name":"Department of Oncology Akershus University Hospital  L\u00f8renskog Norway"},{"name":"Institute of Clinical Medicine University of Oslo  Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4153-1655","authenticated-orcid":false,"given":"Stian","family":"Knappskog","sequence":"additional","affiliation":[{"name":"Department of Clinical Science, K.G. Jebsen Center for Genome\u2010Directed Cancer Therapy University of Bergen  Bergen Norway"},{"name":"Department of Oncology Haukeland University Hospital  Bergen Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,3,12]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2005.11.999"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994\u201015"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.critrevonc.2021.103425"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.13210"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20518"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2015.09.070"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(99)80004-5"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s12276-023-00979-1"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cup.13689"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01240-8"},{"key":"e_1_2_11_12_1","first-page":"210","article-title":"Update 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