{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T07:40:58Z","timestamp":1740123658937,"version":"3.37.3"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,1,6]],"date-time":"2021-01-06T00:00:00Z","timestamp":1609891200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,1,6]],"date-time":"2021-01-06T00:00:00Z","timestamp":1609891200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["R21CA191943"],"award-info":[{"award-number":["R21CA191943"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Patti Blow Research Fund in Ophthalmology"},{"DOI":"10.13039\/501100012643","name":"Ohio Lions Eye Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012643","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1007\/s10689-020-00220-2","type":"journal-article","created":{"date-parts":[[2021,1,6]],"date-time":"2021-01-06T03:03:56Z","timestamp":1609902236000},"page":"1-5","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Atypical choroidal nevus in a subject with a germline PALB2 pathogenic variant"],"prefix":"10.1007","volume":"21","author":[{"given":"Timothy W.","family":"Grosel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Karl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert T.","family":"Pilarski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frederick H.","family":"Davidorf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed H.","family":"Abdel-Rahman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5636-4968","authenticated-orcid":false,"given":"Colleen M.","family":"Cebulla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,1,6]]},"reference":[{"issue":"10","key":"220_CR1","doi-asserted-by":"publisher","first-page":"1784","DOI":"10.1016\/j.ophtha.2005.06.011","volume":"112","author":"AD Singh","year":"2005","unstructured":"Singh AD, Kalyani P, Topham A (2005) Estimating the risk of malignant transformation of a choroidal nevus. Ophthalmology 112(10):1784\u20131789. https:\/\/doi.org\/10.1016\/j.ophtha.2005.06.011","journal-title":"Ophthalmology"},{"issue":"10","key":"220_CR2","doi-asserted-by":"publisher","first-page":"1840","DOI":"10.1097\/iae.0000000000002440","volume":"39","author":"CL Shields","year":"2019","unstructured":"Shields CL, Dalvin LA, Ancona-Lezama D, Yu MD, Di Nicola M, Williams BK Jr et al (2019) Choroidal nevus imaging features in 3,806 cases and risk factors for transformation into melanoma in 2,355 cases: the 2020 Taylor R. Smith and Victor T. Curtin lecture. Retina (Philadelphia, Pa) 39(10):1840\u20131851. https:\/\/doi.org\/10.1097\/iae.0000000000002440","journal-title":"Retina (Philadelphia, Pa)"},{"issue":"2","key":"220_CR3","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1002\/gcc.22424","volume":"56","author":"K Rai","year":"2017","unstructured":"Rai K, Pilarski R, Boru G, Rehman M, Saqr AH, Massengill JB et al (2017) Germline BAP1 alterations in familial uveal melanoma. Genes Chromosom Cancer 56(2):168\u2013174. https:\/\/doi.org\/10.1002\/gcc.22424","journal-title":"Genes Chromosom Cancer"},{"issue":"12","key":"220_CR4","doi-asserted-by":"publisher","first-page":"1328","DOI":"10.1093\/jnci\/djy171","volume":"110","author":"S Walpole","year":"2018","unstructured":"Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH et al (2018) Comprehensive study of the clinical phenotype of germline BAP1 variant-carrying families worldwide. J Natl Cancer Inst 110(12):1328\u20131341. https:\/\/doi.org\/10.1093\/jnci\/djy171","journal-title":"J Natl Cancer Inst"},{"issue":"3","key":"220_CR5","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1016\/j.tibs.2018.10.008","volume":"44","author":"M Ducy","year":"2019","unstructured":"Ducy M, Sesma-Sanz L, Guitton-Sert L, Lashgari A, Gao Y, Brahiti N et al (2019) The tumor suppressor PALB2: inside out. Trends Biochem Sci 44(3):226\u2013240. https:\/\/doi.org\/10.1016\/j.tibs.2018.10.008","journal-title":"Trends Biochem Sci"},{"issue":"5924","key":"220_CR6","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1126\/science.1171202","volume":"324","author":"S Jones","year":"2009","unstructured":"Jones S, Hruban RH, Kamiyama M, Borges M, Zhang X, Parsons DW et al (2009) Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 324(5924):217. https:\/\/doi.org\/10.1126\/science.1171202","journal-title":"Science"},{"issue":"2","key":"220_CR7","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/ng1959","volume":"39","author":"N Rahman","year":"2007","unstructured":"Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A et al (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39(2):165\u2013167. https:\/\/doi.org\/10.1038\/ng1959","journal-title":"Nat Genet"},{"issue":"7","key":"220_CR8","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1016\/s2468-1253(18)30079-7","volume":"3","author":"E Fewings","year":"2018","unstructured":"Fewings E, Larionov A, Redman J, Goldgraben MA, Scarth J, Richardson S et al (2018) Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study. Lancet Gastroenterol Hepatol 3(7):489\u2013498. https:\/\/doi.org\/10.1016\/s2468-1253(18)30079-7","journal-title":"Lancet Gastroenterol Hepatol"},{"key":"220_CR9","unstructured":"Network NCC (2019) Genetic\/familial high-risk assessment: breast, ovarian, and pancreatic (version 1.2020). https:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_bop.pdf. Accessed 11 Feb 2020"},{"issue":"5","key":"220_CR10","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1016\/j.ophtha.2019.11.009","volume":"127","author":"MH Abdel-Rahman","year":"2020","unstructured":"Abdel-Rahman MH, Sample KM, Pilarski R, Walsh T, Grosel T, Kinnamon D et al (2020) Whole exome sequencing identifies candidate genes associated with hereditary predisposition to uveal melanoma. Ophthalmology 127(5):668\u2013678. https:\/\/doi.org\/10.1016\/j.ophtha.2019.11.009","journal-title":"Ophthalmology"},{"issue":"20","key":"220_CR11","doi-asserted-by":"publisher","first-page":"10662","DOI":"10.1093\/nar\/gkz780","volume":"47","author":"A Rodrigue","year":"2019","unstructured":"Rodrigue A, Margaillan G, Torres Gomes T, Coulombe Y, Montalban G, da Costa ESCS et al (2019) A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor. Nucleic Acids Res 47(20):10662\u201310677. https:\/\/doi.org\/10.1093\/nar\/gkz780","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"220_CR12","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1007\/s10689-011-9426-1","volume":"10","author":"EW Hofstatter","year":"2011","unstructured":"Hofstatter EW, Domchek SM, Miron A, Garber J, Wang M, Componeschi K et al (2011) PALB2 mutations in familial breast and pancreatic cancer. Fam Cancer 10(2):225\u2013231. https:\/\/doi.org\/10.1007\/s10689-011-9426-1","journal-title":"Fam Cancer"},{"issue":"2","key":"220_CR13","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1038\/ng1942","volume":"39","author":"B Xia","year":"2007","unstructured":"Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, Sheng Q et al (2007) Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 39(2):159\u2013161. https:\/\/doi.org\/10.1038\/ng1942","journal-title":"Nat Genet"},{"issue":"7","key":"220_CR14","doi-asserted-by":"publisher","first-page":"2823","DOI":"10.1167\/iovs.07-1603","volume":"49","author":"JJ Augsburger","year":"2008","unstructured":"Augsburger JJ, Correa ZM, Trichopoulos N, Shaikh A (2008) Size overlap between benign melanocytic choroidal nevi and choroidal malignant melanomas. Invest Ophthalmol Vis Sci 49(7):2823\u20132828. https:\/\/doi.org\/10.1167\/iovs.07-1603","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"5","key":"220_CR15","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1016\/S0161-6420(03)00078-2","volume":"110","author":"AD Singh","year":"2003","unstructured":"Singh AD, Topham A (2003) Incidence of uveal melanoma in the United States: 1973\u20131997. Ophthalmology 110(5):956\u2013961. https:\/\/doi.org\/10.1016\/S0161-6420(03)00078-2","journal-title":"Ophthalmology"},{"issue":"4","key":"220_CR16","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1001\/jamaophthalmol.2014.5395","volume":"133","author":"ER Simpson","year":"2015","unstructured":"Simpson ER, Gallie BL, Saakyan S, Amiryan A, Finger PT, Chin KJ, Seregard S, Fili M, Wilson M, Haik B, Caminal JM (2015) International validation of the American Joint Committee on Cancer\u2019s 7th edition classification of uveal melanoma. JAMA Ophthalmol 133(4):376\u2013383. https:\/\/doi.org\/10.1001\/jamaophthalmol.2014.5395","journal-title":"JAMA Ophthalmol"},{"key":"220_CR17","doi-asserted-by":"publisher","first-page":"925","DOI":"10.2147\/opth.S129645","volume":"12","author":"BY Brewington","year":"2018","unstructured":"Brewington BY, Shao YF, Davidorf FH, Cebulla CM (2018) Brachytherapy for patients with uveal melanoma: historical perspectives and future treatment directions. Clin Ophthalmol (Auckland, NZ) 12:925\u2013934. https:\/\/doi.org\/10.2147\/opth.S129645","journal-title":"Clin Ophthalmol (Auckland, NZ)"},{"issue":"1","key":"220_CR18","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1016\/j.brachy.2015.09.013","volume":"15","author":"CE Wisely","year":"2016","unstructured":"Wisely CE, Hadziahmetovic M, Reem RE, Hade EM, Nag S, Davidorf FH et al (2016) Long-term visual acuity outcomes in patients with uveal melanoma treated with 125I episcleral OSU-Nag plaque brachytherapy. Brachytherapy 15(1):12\u201322. https:\/\/doi.org\/10.1016\/j.brachy.2015.09.013","journal-title":"Brachytherapy"},{"key":"220_CR19","unstructured":"American Academy of Ophthalmology. Policy statement: frequency of ocular examinations (2015) https:\/\/www.aao.org\/clinical-statement\/frequency-of-ocular-examinations. Accessed 18 May 2020"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-020-00220-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10689-020-00220-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-020-00220-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,28]],"date-time":"2022-01-28T11:27:07Z","timestamp":1643369227000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10689-020-00220-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,6]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["220"],"URL":"https:\/\/doi.org\/10.1007\/s10689-020-00220-2","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"type":"print","value":"1389-9600"},{"type":"electronic","value":"1573-7292"}],"subject":[],"published":{"date-parts":[[2021,1,6]]},"assertion":[{"value":"19 May 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 November 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 January 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors have no conflicts of interest to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This work was done under a research protocol approved by the Institutional Review Board of The Ohio State University.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Signed informed consent to participate was obtained from the patient.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The participant has consented to publication of the case report.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}