{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T20:17:30Z","timestamp":1791231450852,"version":"4.1.0"},"reference-count":111,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,1,5]],"date-time":"2015-01-05T00:00:00Z","timestamp":1420416000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Health and Medical Research Council of Australia"},{"name":"Cure Cancer Australia"},{"name":"Australia and New Zealand Banking Group Limited Trustees and Rigshospitalet"},{"name":"University Hospital of Copenhagen"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Twenty years ago, the first familial melanoma susceptibility gene, <jats:italic><jats:styled-content style=\"fixed-case\">CDKN<\/jats:styled-content>2A<\/jats:italic>, was identified. Two years later, another high\u2010penetrance gene, <jats:styled-content style=\"fixed-case\">CDK<\/jats:styled-content>4, was found to be responsible for melanoma development in some families. Progress in identifying new familial melanoma genes was subsequently slow; however, with the advent of next\u2010generation sequencing, a small number of new high\u2010penetrance genes have recently been uncovered. This approach has identified the lineage\u2010specific oncogene <jats:italic><jats:styled-content style=\"fixed-case\">MITF<\/jats:styled-content><\/jats:italic> as a susceptibility gene both in melanoma families and in the general population, as well as the discovery of telomere maintenance as a key pathway underlying melanoma predisposition. Given these rapid recent advances, this approach seems likely to continue to pay dividends. Here, we review the currently known familial melanoma genes, providing evidence that most additionally confer risk to other cancers, indicating that they are likely general tumour suppressor genes or oncogenes, which has significant implications for surveillance and screening.<\/jats:p>","DOI":"10.1111\/pcmr.12333","type":"journal-article","created":{"date-parts":[[2014,11,27]],"date-time":"2014-11-27T15:30:08Z","timestamp":1417102208000},"page":"148-160","source":"Crossref","is-referenced-by-count":142,"title":["Genetics of familial melanoma: 20\u00a0years after <i><scp>CDKN<\/scp>2<scp>A<\/scp><\/i>"],"prefix":"10.1111","volume":"28","author":[{"given":"Lauren G.","family":"Aoude","sequence":"first","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Brisbane Qld Australia"},{"name":"University of Queensland Brisbane Qld Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin A. W.","family":"Wadt","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia L.","family":"Pritchard","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Brisbane Qld Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas K.","family":"Hayward","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Brisbane Qld Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,1,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100156"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.5.446"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12046"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/dju408"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19951101)76:9<1571::AID-CNCR2820760912>3.0.CO;2-6"},{"key":"e_1_2_8_7_1","first-page":"78","article-title":"Familial aggregation of malignant melanoma\/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness","volume":"40","author":"Bahuau M.","year":"1997","journal-title":"Ann. Genet."},{"key":"e_1_2_8_8_1","first-page":"2298","article-title":"Germ\u2010line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors","volume":"58","author":"Bahuau M.","year":"1998","journal-title":"Cancer Res."},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/dju384."},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.959"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/dji312"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10539"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12215"},{"key":"e_1_2_8_14_1","first-page":"2497","article-title":"Novel germline p16 mutation in familial malignant melanoma in southern Sweden","volume":"56","author":"Borg A.","year":"1996","journal-title":"Cancer Res."},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/92.15.1260"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-10-179"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3459"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.4161\/cbt.10.6.12537"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2009.00653.x"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2013.05.018"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199602153340714"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2009.00578.x"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12472"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1346005"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2004.12.033"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2591"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/513891"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1158\/1541-7786.MCR-13-0111"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03401664"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11912-010-0119-y"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03664"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0215(19991112)83:4<441::AID-IJC2>3.0.CO;2-R"},{"key":"e_1_2_8_33_1","first-page":"362","article-title":"Multiple melanoma susceptibility factors function in a UVR response pathway in skin","volume":"162","author":"Giles N.","year":"2011","journal-title":"Br. J. Dermatol."},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1086\/377140"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9247"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199510123331504"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/92.12.1006"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-06-0494"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043802"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2014.03.003"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0795-351"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-08-596445"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1194472"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(200005)28:1<45::AID-GCC6>3.0.CO;2-F"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1208678"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11912-000-0022-z"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102320"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22035"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1230062"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1229259"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-15"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.10155"},{"key":"e_1_2_8_53_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-13-3109"},{"key":"e_1_2_8_54_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/dji280"},{"key":"e_1_2_8_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-22"},{"key":"e_1_2_8_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10286"},{"key":"e_1_2_8_57_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.9.1728"},{"key":"e_1_2_8_58_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1303607110"},{"key":"e_1_2_8_59_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.248567.114"},{"key":"e_1_2_8_60_1","first-page":"409","article-title":"Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ\u2010line p16, BRCA1, and BRCA2 mutations","volume":"60","author":"Lal G.","year":"2000","journal-title":"Cancer Res."},{"key":"e_1_2_8_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(200004)27:4<358::AID-GCC4>3.0.CO;2-O"},{"key":"e_1_2_8_62_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.322"},{"key":"e_1_2_8_63_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0038892"},{"key":"e_1_2_8_64_1","doi-asserted-by":"publisher","DOI":"10.1038\/5082"},{"key":"e_1_2_8_65_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1142"},{"key":"e_1_2_8_66_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01688"},{"key":"e_1_2_8_67_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.10159"},{"key":"e_1_2_8_68_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2013-303814"},{"key":"e_1_2_8_69_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-13-371"},{"key":"e_1_2_8_70_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20238"},{"key":"e_1_2_8_71_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20202"},{"key":"e_1_2_8_72_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:1<70::AID-HUMU12>3.0.CO;2-J"},{"key":"e_1_2_8_73_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10551.x"},{"key":"e_1_2_8_74_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035295"},{"key":"e_1_2_8_75_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-7-86"},{"key":"e_1_2_8_76_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.1159"},{"key":"e_1_2_8_77_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450119"},{"key":"e_1_2_8_78_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22129"},{"key":"e_1_2_8_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.012"},{"key":"e_1_2_8_80_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101455"},{"key":"e_1_2_8_81_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2584"},{"key":"e_1_2_8_82_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.1.55"},{"key":"e_1_2_8_83_1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdt135"},{"key":"e_1_2_8_84_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204728"},{"key":"e_1_2_8_85_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2947"},{"key":"e_1_2_8_86_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-419X(98)00017-1"},{"key":"e_1_2_8_87_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.06.021"},{"key":"e_1_2_8_88_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1185100"},{"key":"e_1_2_8_89_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.48"},{"key":"e_1_2_8_90_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2941"},{"key":"e_1_2_8_91_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0215(19990730)82:3<325::AID-IJC3>3.0.CO;2-G"},{"key":"e_1_2_8_92_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)7:4<294::AID-HUMU2>3.0.CO;2-9"},{"key":"e_1_2_8_93_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.2.209"},{"key":"e_1_2_8_94_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-251"},{"key":"e_1_2_8_95_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.912"},{"key":"e_1_2_8_96_1","doi-asserted-by":"publisher","DOI":"10.1097\/CMR.0b013e3283608695"},{"key":"e_1_2_8_97_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms3185"},{"key":"e_1_2_8_98_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12006"},{"key":"e_1_2_8_99_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12501"},{"key":"e_1_2_8_100_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05454"},{"key":"e_1_2_8_101_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199510123331505"},{"key":"e_1_2_8_102_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.910"},{"key":"e_1_2_8_103_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2011.41.2965"},{"key":"e_1_2_8_104_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05469"},{"key":"e_1_2_8_105_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-14-1328"},{"key":"e_1_2_8_106_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.225870"},{"key":"e_1_2_8_107_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1360"},{"key":"e_1_2_8_108_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1215404"},{"key":"e_1_2_8_109_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10630"},{"key":"e_1_2_8_110_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81401-4"},{"key":"e_1_2_8_111_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.07.012"},{"key":"e_1_2_8_112_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-97"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpcmr.12333","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.12333","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T13:47:29Z","timestamp":1695563249000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.12333"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,5]]},"references-count":111,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1111\/pcmr.12333"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.12333","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,1,5]]}}}