{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:58:42Z","timestamp":1781657922095,"version":"3.54.5"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,9,13]],"date-time":"2002-09-13T00:00:00Z","timestamp":1031875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2002,11,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We studied the BRCA2 gene for germline mutations in 71 of 99 patients (72%) with ocular melanoma who were diagnosed consecutively in Australia in 1997 and 1998. Patients considered for our study fulfilled one of the following critiera: <jats:italic>(i)<\/jats:italic> were 50 years of age or less at diagnosis; <jats:italic>(ii)<\/jats:italic> had bilateral disease (2 patients); <jats:italic>(iii)<\/jats:italic> reported a family history of ocular melanoma (4 patients). Mutation detection was performed using the protein truncation test and denaturing high\u2010performance liquid chromatography with primers designed to include intron\u2010exon boundaries. Six DNA changes were found of which 2 were exonic, in exons 14 (A&gt;C in nucleotide 7244 leading to His&gt;Arg) and 27 (base pair substitution in nucleotide 9976 leading to a stop codon). One exonic change has been reported previously. None of the intronic mutations were deemed to affect splicing efficiency. Neither exonic mutation was in a person with bilateral ocular melanoma or a family history of cutaneous melanoma. We estimated the prevalence of possible loss of function changes in BRCA2 in patients with ocular melanoma at 3% (95% CI 0\u201310%). This figure was similar to previous estimates of 2.8% and 2% in nonrepresentative samples of patients with ocular melanoma and 2.1% in a representative sample of young women with breast cancer. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ijc.10693","type":"journal-article","created":{"date-parts":[[2002,10,17]],"date-time":"2002-10-17T19:55:50Z","timestamp":1034884550000},"page":"188-191","source":"Crossref","is-referenced-by-count":27,"title":["BRCA2 mutations in a population\u2010based series of patients with ocular melanoma"],"prefix":"10.1002","volume":"102","author":[{"given":"Rodney J.","family":"Scott","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire M.","family":"Vajdic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce K.","family":"Armstrong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher J.","family":"Ainsworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cliff J.","family":"Meldrum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne F.","family":"Aitken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Kricker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,9,13]]},"reference":[{"key":"e_1_2_6_2_2","series-title":"Cancer incidence in five continents","author":"Parkin DM","year":"1997"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.1281"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1996.01100130388005"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.10159"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1994.01690080084012"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-4310(97)01105-2"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/378789a0"},{"key":"e_1_2_6_9_2","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_6_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/513891"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.10155"},{"key":"e_1_2_6_12_2","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1093\/nar\/16.3.1215","article-title":"A salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller SA","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199312303292702"},{"key":"e_1_2_6_14_2","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1093\/clinchem\/45.8.1133","article-title":"Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single stranded conformation polymorphism and heteroduplex analysis","volume":"45","author":"Jones AC","year":"1999","journal-title":"Clin Chem"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200172"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/eye.1999.9"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/93.16.1215"}],"container-title":["International Journal of Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fijc.10693","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.10693","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T02:08:15Z","timestamp":1696903695000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ijc.10693"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9,13]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,11,10]]}},"alternative-id":["10.1002\/ijc.10693"],"URL":"https:\/\/doi.org\/10.1002\/ijc.10693","archive":["Portico"],"relation":{},"ISSN":["0020-7136","1097-0215"],"issn-type":[{"value":"0020-7136","type":"print"},{"value":"1097-0215","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,9,13]]}}}