{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T16:09:16Z","timestamp":1761581356076},"reference-count":42,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,11,7]],"date-time":"2015-11-07T00:00:00Z","timestamp":1446854400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Liver International"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background &amp; Aims<\/jats:title><jats:p>Iron overload (<jats:styled-content style=\"fixed-case\">IO<\/jats:styled-content>) in <jats:italic><jats:styled-content style=\"fixed-case\">HFE<\/jats:styled-content><\/jats:italic>\u2010related hereditary haemochromatosis is associated with increased risk of liver cancer. This study aimed to investigate the role of other genes involved in hereditary <jats:styled-content style=\"fixed-case\">IO<\/jats:styled-content> among patients with hepatocellular carcinoma (<jats:styled-content style=\"fixed-case\">HCC<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients with <jats:styled-content style=\"fixed-case\">HCC<\/jats:styled-content> diagnosed in our institution were included in this prospective study. Those with ferritin levels \u2265300 \u03bcg\/L (males) or \u2265200 \u03bcg\/L (females) and\/or transferrin saturation \u226550% (males) or \u226545% (females) had liver iron concentration (<jats:styled-content style=\"fixed-case\">LIC<\/jats:styled-content>) evaluated by <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>. <jats:styled-content style=\"fixed-case\">HFE<\/jats:styled-content> C282Y and H63D mutations were screened. Genetic analyses of genes involved in hereditary <jats:styled-content style=\"fixed-case\">IO<\/jats:styled-content> (<jats:italic><jats:styled-content style=\"fixed-case\">HFE<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> HJV<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">HFE<\/jats:styled-content>2, <jats:styled-content style=\"fixed-case\">HAMP<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> TFR<\/jats:styled-content>2, <jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>40A1, <jats:styled-content style=\"fixed-case\">GNPAT<\/jats:styled-content><\/jats:italic>) were performed in patients with increased <jats:styled-content style=\"fixed-case\">LIC<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 234 patients were included; 215 (92%) had common acquired risk factors of <jats:styled-content style=\"fixed-case\">HCC<\/jats:styled-content> (mainly alcoholism or chronic viral hepatitis). 119 patients had abnormal iron parameters. Twelve (5.1%) were C282Y homozygotes, three were compound C282Y\/H63D heterozygotes. <jats:styled-content style=\"fixed-case\">LIC<\/jats:styled-content> was measured by <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> in 100 patients. Thirteen patients with a <jats:styled-content style=\"fixed-case\">LIC<\/jats:styled-content>&gt;70 \u03bcmol\/g were enrolled in further genetic analyses: two unrelated patients bore the <jats:italic><jats:styled-content style=\"fixed-case\">HAMP<\/jats:styled-content><\/jats:italic>:c.\u2010153C&gt;T mutation at the heterozygous state, which is associated with increased risk of <jats:styled-content style=\"fixed-case\">IO<\/jats:styled-content> and severe haemochromatosis. Specific haplotypes of <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>40A1<\/jats:italic> were also studied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Additional genetic risk factors of <jats:styled-content style=\"fixed-case\">IO<\/jats:styled-content> were found in 18 patients (7.7%) among a large series of 234 <jats:styled-content style=\"fixed-case\">HCC<\/jats:styled-content> patients. Screening for IO and the associated at\u2010risk genotypes in patients who have developed HCC, is useful for both determining etiologic diagnosis and enabling family screening and possibly primary prevention in relatives.<\/jats:p><\/jats:sec>","DOI":"10.1111\/liv.12984","type":"journal-article","created":{"date-parts":[[2015,10,16]],"date-time":"2015-10-16T15:14:47Z","timestamp":1445008487000},"page":"746-754","source":"Crossref","is-referenced-by-count":14,"title":["The role of genetic factors in patients with hepatocellular carcinoma and iron overload \u2013 a prospective series of 234 patients"],"prefix":"10.1111","volume":"36","author":[{"given":"Natalie","family":"Funakoshi","sequence":"first","affiliation":[{"name":"Department of Hepato\u2010Gastroenterology B CHRU de Montpellier H\u00f4pital Saint Eloi France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iphig\u00e9nie","family":"Chaze","sequence":"additional","affiliation":[{"name":"Department of 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