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Participants were drawn from a combination of volunteers from dermatology outpatient clinics, private dermatology clinics, the Brisbane Longitudinal Twin Study and QS<\/jats:styled-content>kin study. Case participants had a personal history of melanoma and control participants no personal history of melanoma. We specifically examined seven known candidate pigmentation and melanoma genes and pigmentary phenotypic characteristics in participants with amelanotic\/hypomelanotic melanoma compared to pigmented melanomas. This assayed single nucleotide polymorphisms in MC<\/jats:styled-content>1R<\/jats:italic>, TYR<\/jats:styled-content><\/jats:italic>, HERC<\/jats:styled-content>\/OCA<\/jats:styled-content>2<\/jats:italic>, IRF<\/jats:styled-content>4<\/jats:italic>, MTAP<\/jats:styled-content><\/jats:italic>, PLA<\/jats:styled-content>2G6<\/jats:italic> and MITF<\/jats:styled-content><\/jats:italic>.<\/jats:p><\/jats:sec>Results<\/jats:title>Forty\u2010seven participants had at least one amelanotic\/hypomelanotic melanoma, and 389 had pigmented melanomas, with amelanotic\/hypomelanotic melanoma patients significantly older than pigmented melanoma participants (63.3\u00a0\u00b1\u00a013.0 vs. 54.6\u00a0\u00b1\u00a015.3\u00a0years; P\u00a0<\/jats:italic><\u00a0<\/jats:italic>0.001). Amelanotic\/hypomelanotic melanoma patients were more likely than pigmented melanoma patients to have red hair (34% vs. 15%; P\u00a0<\/jats:italic>=\u00a0<\/jats:italic>0.01), severe hand freckling (13% vs. 5%; P\u00a0<\/jats:italic>=\u00a0<\/jats:italic>0.01) and propensity to sunburn (63% vs. 44%; P\u00a0<\/jats:italic>=\u00a0<\/jats:italic>0.01). MC<\/jats:styled-content>1R<\/jats:italic> R\/R genotype was much more frequent in our amelanotic\/hypomelanotic melanoma population (31.1% vs. 11%; P\u00a0<\/jats:italic><\u00a0<\/jats:italic>0.001; OR<\/jats:styled-content> 26.4 vs. 5.9; control 1.0). Amelanotic\/hypomelanotic melanoma was associated with TYR<\/jats:styled-content><\/jats:italic> rs1126809*A\/A [OR<\/jats:styled-content> (CI<\/jats:styled-content> 95%) 2.7 (1.1\u20136.8) vs. 1.2 (0.8\u20131.9)] and PLA<\/jats:styled-content>2G6<\/jats:italic> rs11570734*A\/A [OR<\/jats:styled-content> (CI<\/jats:styled-content> 95%) 3.7 (1.0\u201313.6) vs. 1.3 (0.9\u20132.0)]. The MTAP<\/jats:styled-content><\/jats:italic> melanoma risk SNP<\/jats:styled-content> genotype, associated with darker pigmentation, (rs4636294*A\/A) was less common in amelanotic\/hypomelanotic melanoma patients [OR<\/jats:styled-content> (CI<\/jats:styled-content> 95%) 0.8 (0.3\u20132.1) vs. 2.0 (1.3\u20133.1)].<\/jats:p><\/jats:sec>Conclusions<\/jats:title>Knowledge of phenotypic and genotypic associations of amelanotic\/hypomelanotic melanoma can help predict risks and associations of this difficult to diagnose melanoma, which may ultimately assist clinical management and patient skin self\u2010examination.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.15446","type":"journal-article","created":{"date-parts":[[2019,1,25]],"date-time":"2019-01-25T07:53:38Z","timestamp":1548402818000},"page":"1076-1083","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients"],"prefix":"10.1111","volume":"33","author":[{"given":"J.E.","family":"Rayner","sequence":"first","affiliation":[{"name":"Dermatology Research Centre The University of Queensland Diamantina Institute The University of Queensland Brisbane Qld Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.K.","family":"McMeniman","sequence":"additional","affiliation":[{"name":"Dermatology Research Centre The University of Queensland Diamantina Institute The University of Queensland Brisbane Qld Australia"},{"name":"Dermatology Department Princess Alexandra Hospital Brisbane Qld Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.L.","family":"Duffy","sequence":"additional","affiliation":[{"name":"Dermatology Research Centre The University of Queensland Diamantina Institute The University of Queensland Brisbane Qld Australia"},{"name":"QIMR Berghofer Medical Research Institute Brisbane Qld 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