{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T05:55:50Z","timestamp":1793426150306,"version":"4.5.0"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T00:00:00Z","timestamp":1626825600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T00:00:00Z","timestamp":1626825600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hered Cancer Clin Pract"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>The microphthalmia-associated transcription factor gene (<jats:italic>MITF<\/jats:italic>) belongs to the <jats:italic>MYC<\/jats:italic> supergene family and plays an important role in melanocytes\u2019 homeostasis. Individuals harboring <jats:italic>MITF<\/jats:italic> germline pathogenic variants are at increased risk of developing cancer, most notably melanoma and renal cell carcinoma.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We describe a cohort of ten individuals who harbor the same <jats:italic>MITF<\/jats:italic> c.952G\u2009&gt;\u2009A (p.Glu 318Lys), or p.E318K, germline pathogenic variant. Six carriers developed at least one malignancy (4 cases of breast cancer; 1 cervical cancer; 1 colon cancer; 1 melanoma; 1 ovarian\/fallopian tube cancer). A significant phenotypic heterogeneity was found among these individuals and their relatives. Breast cancer was, overall, the most frequent malignancy observed in this case series, with 13 occurrences of 60 (21.67\u2009%) total cancer cases described among the probands and their relatives.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our retrospective analysis data raise the hypothesis of a possible association of the <jats:italic>MITF<\/jats:italic> p.E318K pathogenic variant with an increased risk of breast cancer.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13053-021-00189-8","type":"journal-article","created":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T10:04:03Z","timestamp":1626861843000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Expanding the phenotype of E318K (c.952G\u2009&gt;\u2009A) MITF germline mutation carriers: case series and review of the literature"],"prefix":"10.1186","volume":"19","author":[{"given":"Leandro Jonata Carvalho","family":"Oliveira","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline Bobato Lara","family":"Gongora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiola Ambrosio Silveira","family":"Lima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felipe Sales Nogueira Amorim","family":"Canedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla Vanessa","family":"Quirino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janina Pontes","family":"Pisani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Isabel","family":"Achatz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedito Mauro","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,21]]},"reference":[{"issue":"1\u20132","key":"189_CR1","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.ejcb.2013.10.002","volume":"93","author":"BB Paillerets","year":"2014","unstructured":"Paillerets BB, Lesueur F, Bertolotto C. 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Therefore, patients\u2019 identification will not occur at any time. The Ethics committee approved the exemption of informed consent.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Dr. Lara Gongora has received speaker honoraria from MSD and Amgem. Dr. Canedo has received speaker honoraria from MSD. The remaining authors report no conflicts of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"32"}}