{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T22:05:54Z","timestamp":1792447554686,"version":"4.5.0"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"24","funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"NCI","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011541","name":"DCEG","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011541","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R01 CA49449, P01 CA87969, UM1 CA186107, and UM1 CA167552"],"award-info":[{"award-number":["R01 CA49449, P01 CA87969, UM1 CA186107, and UM1 CA167552"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,12,15]]},"DOI":"10.1093\/hmg\/ddx368","type":"journal-article","created":{"date-parts":[[2017,9,30]],"date-time":"2017-09-30T03:09:56Z","timestamp":1506740996000},"page":"4886-4895","source":"Crossref","is-referenced-by-count":46,"title":["Rare germline variants in known melanoma susceptibility genes in familial melanoma"],"prefix":"10.1093","volume":"26","author":[{"given":"Alisa M","family":"Goldstein","sequence":"first","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanzi","family":"Xiao","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Sampson","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Zhu","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Rotunno","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hunter","family":"Bennett","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yixuan","family":"Wen","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristine","family":"Jones","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"},{"name":"Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelie","family":"Vogt","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"},{"name":"Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie","family":"Burdette","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"},{"name":"Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Luo","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"},{"name":"Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Zhu","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"},{"name":"Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meredith","family":"Yeager","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"},{"name":"Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belynda","family":"Hicks","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"},{"name":"Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiali","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA"},{"name":"Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Immaculata","family":"De Vivo","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA"},{"name":"Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"Koutros","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Andreotti","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Beane-Freeman","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Purdue","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neal D","family":"Freedman","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen J","family":"Chanock","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret A","family":"Tucker","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohong R","family":"Yang","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,10,3]]},"reference":[{"key":"key\n\t\t\t\t20180328134405_ddx368-B1","doi-asserted-by":"crossref","first-page":"3042","DOI":"10.1038\/sj.onc.1206444","article-title":"Melanoma etiology: where are we?","volume":"22","author":"Tucker","year":"2003","journal-title":"Oncogene"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B2","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1001\/archderm.137.11.1493","article-title":"Genetic epidemiology of cutaneous melanoma: a global perspective","volume":"137","author":"Goldstein","year":"2001","journal-title":"Arch. Dermatol"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmedgenet-2015-103150","article-title":"Melanoma genetics","volume":"53","author":"Read","year":"2016","journal-title":"J. Med. Genet"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B4","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/nature10630","article-title":"A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma","volume":"480","author":"Yokoyama","year":"2011","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B5","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1093\/jnci\/djq363","article-title":"Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study","volume":"102","author":"Demenais","year":"2010","journal-title":"J. Natl. Cancer Inst"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B6","doi-asserted-by":"crossref","first-page":"2208","DOI":"10.1158\/1055-9965.EPI-05-0321A","article-title":"Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations","volume":"14","author":"Goldstein","year":"2005","journal-title":"Cancer Epidemiol. Biomarkers Prev"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B7","doi-asserted-by":"crossref","DOI":"10.1093\/jnci\/djv214","article-title":"Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer","volume":"107","author":"Ramus","year":"2015","journal-title":"J. Natl. Cancer Inst"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B8","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1053\/j.gastro.2014.11.042","article-title":"Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer","volume":"148","author":"Grant","year":"2015","journal-title":"Gastroenterology"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B9","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.1056\/NEJMoa1508054","article-title":"Germline Mutations in Predisposition Genes in Pediatric Cancer","volume":"373","author":"Zhang","year":"2015","journal-title":"N. Engl. J. Med"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B10","doi-asserted-by":"crossref","first-page":"10086","DOI":"10.1038\/ncomms10086","article-title":"Patterns and functional implications of rare germline variants across 12 cancer types","volume":"6","author":"Lu","year":"2015","journal-title":"Nat. Commun"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B11","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1038\/jid.2012.75","article-title":"Melanoma genetics: recent findings take us beyond well-traveled pathways","volume":"132","author":"Law","year":"2012","journal-title":"J. Invest. Dermatol"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B12","first-page":"2497","article-title":"Novel germline p16 mutation in familial malignant melanoma in southern Sweden","volume":"56","author":"Borg","year":"1996","journal-title":"Cancer Res"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B13","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1186\/gb-2012-13-9-248","article-title":"Human pigmentation genes under environmental selection","volume":"13","author":"Sturm","year":"2012","journal-title":"Genome Biol"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B14","first-page":"586","article-title":"Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel","volume":"54","author":"Gershoni-Baruch","year":"1994","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B15","doi-asserted-by":"crossref","first-page":"2442","DOI":"10.1038\/jid.2008.109","article-title":"Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type","volume":"128","author":"Hutton","year":"2008","journal-title":"J. Invest. Dermatol"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B16","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1111\/j.1600-0625.2008.00807.x","article-title":"Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients","volume":"18","author":"Council","year":"2009","journal-title":"Exp. Dermatol"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B17","doi-asserted-by":"crossref","first-page":"2250","DOI":"10.1038\/jid.2009.62","article-title":"Genome-wide association study of tanning phenotype in a population of European ancestry","volume":"129","author":"Nan","year":"2009","journal-title":"J. Invest. Dermatol"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B18","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1002\/ijc.24327","article-title":"Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians","volume":"125","author":"Nan","year":"2009","journal-title":"Int. J. Cancer"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B19","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1038\/ng.411","article-title":"Genome-wide association study identifies three loci associated with melanoma risk","volume":"41","author":"Bishop","year":"2009","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B20","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1002\/ajmg.a.32654","article-title":"The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism","volume":"149A","author":"Oetting","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B21","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1111\/pcmr.12253","article-title":"Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits","volume":"27","author":"Jagirdar","year":"2014","journal-title":"Pigment Cell Melanoma Res"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B22","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/pcmr.12167","article-title":"Increasing the complexity: new genes and new types of albinism","volume":"27","author":"Montoliu","year":"2014","journal-title":"Pigment Cell Melanoma Res"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B23","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/pcmr.12546","article-title":"Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity","volume":"30","author":"Dolinska","year":"2017","journal-title":"Pigment Cell Melanoma Res"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B24","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1038\/ng.410","article-title":"Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi","volume":"41","author":"Falchi","year":"2009","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B25","doi-asserted-by":"crossref","first-page":"E2792","DOI":"10.1073\/pnas.1222534110","article-title":"Deciphering the rules by which 5'-UTR sequences affect protein expression in yeast","volume":"110","author":"Dvir","year":"2013","journal-title":"Proc. Natl. Acad. Sci. U. S. A"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B26","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1126\/science.7792600","article-title":"A single ataxia telangiectasia gene with a product similar to PI-3 kinase","volume":"268","author":"Savitsky","year":"1995","journal-title":"Science"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B27","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1158\/2159-8290.CD-11-0194","article-title":"ATM mutations in patients with hereditary pancreatic cancer","volume":"2","author":"Roberts","year":"2012","journal-title":"Cancer Discov"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B28","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1038\/ng1837","article-title":"ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles","volume":"38","author":"Renwick","year":"2006","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B29","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1073\/pnas.012329699","article-title":"Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer","volume":"99","author":"Scott","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B30","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1093\/jnci\/92.12.1006","article-title":"Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations","volume":"92","author":"Goldstein","year":"2000","journal-title":"J. Natl. Cancer Inst"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B31","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1038\/ng.2941","article-title":"Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma","volume":"46","author":"Shi","year":"2014","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B32","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1007\/s00439-016-1715-1","article-title":"Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations","volume":"135","author":"Yang","year":"2016","journal-title":"Hum. Genet"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B33","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1007\/s00439-015-1550-9","article-title":"Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family","volume":"134","author":"Pathak","year":"2015","journal-title":"Hum. Genet"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B34","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/nar\/29.1.308","article-title":"dbSNP: the NCBI database of genetic variation","volume":"29","author":"Sherry","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B35","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing","volume":"467","author":"Durbin","year":"2010","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B36","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60, 706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B37","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","article-title":"The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine","volume":"133","author":"Stenson","year":"2014","journal-title":"Hum. Genet"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B38","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1093\/hmg\/ddu733","article-title":"Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies","volume":"24","author":"Dong","year":"2015","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180328134405_ddx368-B39","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1093\/biostatistics\/kxs014","article-title":"Optimal tests for rare variant effects in sequencing association studies","volume":"13","author":"Lee","year":"2012","journal-title":"Biostatistics"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/26\/24\/4886\/24339312\/ddx368.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,18]],"date-time":"2020-10-18T14:24:39Z","timestamp":1603031079000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/26\/24\/4886\/4317429"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,3]]},"references-count":39,"journal-issue":{"issue":"24","published-online":{"date-parts":[[2017,10,3]]},"published-print":{"date-parts":[[2017,12,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddx368","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,12,15]]},"published":{"date-parts":[[2017,10,3]]}}}