{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:17:31Z","timestamp":1787015851198,"version":"build-2736575974"},"reference-count":52,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,7,6]],"date-time":"2019-07-06T00:00:00Z","timestamp":1562371200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008239","name":"Highlands and Islands Enterprise","doi-asserted-by":"publisher","award":["9353763"],"award-info":[{"award-number":["9353763"]}],"id":[{"id":"10.13039\/100008239","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1093017"],"award-info":[{"award-number":["1093017"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1117663"],"award-info":[{"award-number":["1117663"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001793","name":"Queensland University of Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001793","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Approximately 1%\u20132% of cutaneous melanoma (CM) is classified as strongly familial. We sought to investigate unexplained CM predisposition in families negative for the known susceptibility genes using next\u2010generation sequencing of affected individuals. Segregation of germline variants of interest within families was assessed by Sanger sequencing. Several heterozygous variants in oculocutaneous albinism (OCA) genes:\n                    <jats:italic>TYR<\/jats:italic>\n                    ,\n                    <jats:italic>OCA2, TYRP1<\/jats:italic>\n                    and\n                    <jats:italic>SLC45A2<\/jats:italic>\n                    , were present in our CM cohort. OCA is a group of autosomal recessive genetic disorders, resulting in pigmentation defects of the eyes, hair and skin. Missense variants classified as pathogenic for OCA were present in multiple families and some fully segregated with CM. The functionally compromised\n                    <jats:italic>TYR<\/jats:italic>\n                    p.T373K variant was present in three unrelated families. In\n                    <jats:italic>OCA2<\/jats:italic>\n                    , known pathogenic variants: p.V443I and p.N489D, were present in three families and one family, respectively. We identified a likely pathogenic\n                    <jats:italic>SLC45A2<\/jats:italic>\n                    frameshift variant that fully segregated with CM in a family of four cases. Another four\u2010case family harboured cosegregating variants (p.A24T and p.R153C) of uncertain functional significance in\n                    <jats:italic>TYRP1<\/jats:italic>\n                    . We conclude that rare, heterozygous variants in OCA genes confer moderate risk for CM.\n                  <\/jats:p>","DOI":"10.1111\/pcmr.12804","type":"journal-article","created":{"date-parts":[[2019,6,25]],"date-time":"2019-06-25T13:36:53Z","timestamp":1561469813000},"page":"854-863","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7201-6819","authenticated-orcid":false,"given":"Vaishnavi","family":"Nathan","sequence":"first","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Brisbane Queensland Australia"},{"name":"University of Queensland Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7015-5452","authenticated-orcid":false,"given":"Peter A.","family":"Johansson","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane M.","family":"Palmer","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Howlie","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayley R.","family":"Hamilton","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Wadt","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6ran","family":"J\u00f6nsson","sequence":"additional","affiliation":[{"name":"Department of Oncology, Clinical Sciences Lund University Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly M.","family":"Brooks","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5336-0454","authenticated-orcid":false,"given":"Antonia L.","family":"Pritchard","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Brisbane Queensland Australia"},{"name":"University of Highlands and Islands Inverness Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas K.","family":"Hayward","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100156"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003350010120"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000468538"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008390-199604000-00011"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/dju408"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1375\/twin.11.2.183"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10539"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0129273"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr.08.2010.3262"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.1994.tb00068.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000369065"},{"key":"e_1_2_6_13_1","first-page":"140","article-title":"Hypopigmentation: A common feature of Prader\u2010Labhart\u2010Willi syndrome","volume":"45","author":"Butler M. 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