{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T04:26:46Z","timestamp":1744864006599,"version":"3.37.3"},"reference-count":60,"publisher":"Oxford University Press (OUP)","issue":"21","license":[{"start":{"date-parts":[[2021,1,7]],"date-time":"2021-01-07T00:00:00Z","timestamp":1609977600000},"content-version":"vor","delay-in-days":82,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Australia Career Development Fellowship","award":["1147843"],"award-info":[{"award-number":["1147843"]}]},{"name":"NHMRC Career Development Fellowship","award":["1125290"],"award-info":[{"award-number":["1125290"]}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["c588\/a19167"],"award-info":[{"award-number":["c588\/a19167"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["ca083115"],"award-info":[{"award-number":["ca083115"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NHMRC Research Fellowships","award":["1058522","1155413","1154543","1117663"],"award-info":[{"award-number":["1058522","1155413","1154543","1117663"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,1,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Germline genetic variants have been identified, which predispose individuals and families to develop melanoma.<\/jats:p>\n               <jats:p>Tumor thickness is the strongest predictor of outcome for clinically localized primary melanoma patients. We sought to determine whether there is a heritable genetic contribution to variation in tumor thickness. If confirmed, this will justify the search for specific genetic variants influencing tumor thickness.<\/jats:p>\n               <jats:p>To address this, we estimated the proportion of variation in tumor thickness attributable to genome-wide genetic variation (variant-based heritability) using unrelated patients with measured primary cutaneous melanoma thickness. As a secondary analysis, we conducted a genome-wide association study (GWAS) of tumor thickness.<\/jats:p>\n               <jats:p>The analyses utilized 10\u2009604 individuals with primary cutaneous melanoma drawn from nine GWAS datasets from eight cohorts recruited from the general population, primary care and melanoma treatment centers. Following quality control and filtering to unrelated individuals with study phenotypes, 8125 patients were used in the primary analysis to test whether tumor thickness is heritable. An expanded set of 8505 individuals (47.6% female) were analyzed for the secondary GWAS meta-analysis. Analyses were adjusted for participant age, sex, cohort and ancestry.<\/jats:p>\n               <jats:p>We found that 26.6% (SE 11.9%, P\u2009=\u20090.0128) of variation in tumor thickness is attributable to genome-wide genetic variation. While requiring replication, a chromosome 11 locus was associated (P\u2009&amp;lt;\u20095\u2009\u00d7\u200910\u22128) with tumor thickness. Our work indicates that sufficiently large datasets will enable the discovery of genetic variants associated with greater tumor thickness, and this will lead to the identification of host biological processes influencing melanoma growth and invasion.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa222","type":"journal-article","created":{"date-parts":[[2020,10,12]],"date-time":"2020-10-12T11:12:35Z","timestamp":1602501155000},"page":"3578-3587","source":"Crossref","is-referenced-by-count":5,"title":["Germline variants are associated with increased primary melanoma tumor thickness at diagnosis"],"prefix":"10.1093","volume":"29","author":[{"given":"Ernest","family":"Mangantig","sequence":"first","affiliation":[{"name":"Regenerative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, 13200, Pulau Pinang, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6731-8142","authenticated-orcid":false,"given":"Stuart","family":"MacGregor","sequence":"additional","affiliation":[{"name":"Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2603-6509","authenticated-orcid":false,"given":"Mark M","family":"Iles","sequence":"additional","affiliation":[{"name":"Leeds Institute for Data Analytics, University of Leeds, Leeds LS2 9JT, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8991-0013","authenticated-orcid":false,"given":"Richard A","family":"Scolyer","sequence":"additional","affiliation":[{"name":"Melanoma Institute Australia, The University of Sydney, Sydney, New South Wales, 2065, Australia"},{"name":"Department of Tissue Oncology and Diagnostic Pathology, Royal Prince Alfred Hospital, Sydney, New South Wales, 2050, Australia"},{"name":"Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, 2050, Australia"},{"name":"Department of Tissue Oncology and Diagnostic Pathology, New South Wales Health Pathology, Sydney, New South Wales, 2000, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5331-6370","authenticated-orcid":false,"given":"Anne E","family":"Cust","sequence":"additional","affiliation":[{"name":"Melanoma Institute Australia, The University of Sydney, Sydney, New South Wales, 2065, Australia"},{"name":"Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, 2050, Australia"},{"name":"School of Public Health, The University of Sydney, Sydney, New South Wales, 2006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas K","family":"Hayward","sequence":"additional","affiliation":[{"name":"Oncogenomics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4140-8139","authenticated-orcid":false,"given":"Grant W","family":"Montgomery","sequence":"additional","affiliation":[{"name":"Molecular Biology, The University of Queensland, Brisbane, Queensland, 4102, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David L","family":"Duffy","sequence":"additional","affiliation":[{"name":"Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John F","family":"Thompson","sequence":"additional","affiliation":[{"name":"Melanoma Institute Australia, The University of Sydney, Sydney, New South Wales, 2065, Australia"},{"name":"Department of Tissue Oncology and Diagnostic Pathology, Royal Prince Alfred Hospital, Sydney, New South Wales, 2050, Australia"},{"name":"Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, 2050, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anjali","family":"Henders","sequence":"additional","affiliation":[{"name":"Molecular Biology, The University of Queensland, Brisbane, Queensland, 4102, Australia"},{"name":"Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Bowdler","sequence":"additional","affiliation":[{"name":"Genetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Casey","family":"Rowe","sequence":"additional","affiliation":[{"name":"Experimental Dermatology Group, Diamantina Institute, The University of Queensland, Brisbane, Queensland, 4102, Australia"},{"name":"Department of Dermatology, Princess Alexandra Hospital, Brisbane, Queensland, 4102, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gemma","family":"Cadby","sequence":"additional","affiliation":[{"name":"School of Population and Global Health, The University of Western Australia, Perth, Western Australia, 6009, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graham J","family":"Mann","sequence":"additional","affiliation":[{"name":"Melanoma Institute Australia, The University of Sydney, Sydney, New South Wales, 2065, Australia"},{"name":"Centre for Cancer Research, Westmead Institute for Medical Research, University of Sydney, New South Wales, 2145, Australia"},{"name":"John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, 2601, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David 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