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A likely pathogenic germline <jats:italic>TP53<\/jats:italic> mutation c.760A\u2009&gt;\u2009G (p.I254V) was found in two tumor samples and matched nontumor tissue. In three cases, pathogenic <jats:italic>BAP1<\/jats:italic> mutation was detected together with germline missense variants of uncertain significance in <jats:italic>ATM<\/jats:italic>. All cases carried recurrent activating <jats:italic>GNAQ<\/jats:italic> or <jats:italic>GNA11<\/jats:italic> mutation. Moreover, we analyzed samples from another 16 patients with primary UM by direct Sanger sequencing focusing only on <jats:italic>TP53<\/jats:italic> coding region. No other germline <jats:italic>TP53<\/jats:italic> mutation was detected in these samples. Germline <jats:italic>TP53<\/jats:italic> mutation, usually associated with Li-Fraumeni syndrome, is a rare event in UM. To the best of our knowledge, only one family with germline <jats:italic>TP53<\/jats:italic> mutation has previously been described. In our study, we detected <jats:italic>TP53<\/jats:italic> mutation in two patients without known family relationship. The identification of germline aberrations in <jats:italic>TP53<\/jats:italic> or <jats:italic>BAP1<\/jats:italic> is important to identify patients with Li-Fraumeni syndrome or <jats:italic>BAP1<\/jats:italic> cancer syndrome, which is also crucial for proper genetic counseling.<\/jats:p>","DOI":"10.1038\/s41598-018-26040-0","type":"journal-article","created":{"date-parts":[[2018,5,10]],"date-time":"2018-05-10T09:03:45Z","timestamp":1525943025000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Germline mutation in the TP53 gene in uveal melanoma"],"prefix":"10.1038","volume":"8","author":[{"given":"Nikola","family":"Hajkova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Hojny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristyna","family":"Nemejcova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavel","family":"Dundr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Ulrych","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katerina","family":"Jirsova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johana","family":"Glezgova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8451-4222","authenticated-orcid":false,"given":"Ivana","family":"Ticha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,5,16]]},"reference":[{"key":"26040_CR1","first-page":"1230","volume":"6","author":"P Jovanovic","year":"2013","unstructured":"Jovanovic, P. et al. 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