{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T23:43:14Z","timestamp":1723160594148},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,7,2]],"date-time":"2022-07-02T00:00:00Z","timestamp":1656720000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,7,2]],"date-time":"2022-07-02T00:00:00Z","timestamp":1656720000000},"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":["Lipids Health Dis"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Heterozygous familial hypercholesterolemia (HeFH) due to low-density lipoprotein receptor (LDLR) mutations predisposes patients to highly elevated levels of cholesterol, and patients are at increased risk of adverse cardiovascular events and other morbidities. Whether the <jats:italic>LDLR<\/jats:italic> mutation and high cholesterol levels affect the risk of cancer remains unknown. The purpose of the present study was to assess the long-term cancer risk in HeFH relatives.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Study participants were identified by cascade screening during 1992\u20131994. A comparison cohort was matched 10:1 to the relatives from the Danish general population based on birth year, gender and address. All participants were followed until a cancer diagnosis, migration, death, or end of follow-up as of December 31, 2019. The primary endpoint was any incident cancer diagnosis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>In total, we included 221 relatives with a median age of 37\u00a0years (interquartile range: 27\u201353\u00a0years). A total of 117 (53%) of the relatives carried a <jats:italic>LDLR<\/jats:italic> gene mutation. The crude hazard ratio of our primary endpoint did not reveal any differences in cancer incidence in mutation-carrying relatives compared with the general population cohort (1.18; 95% CI, 0.81\u20131.71). Nonmutation-carrying relatives however had a lower cancer incidence than the general population (0.45: 95% CI, 0.26\u20130.80). Thus, the risk among mutation-carrying HeFH relatives compared with nonmutation-carrying HeFH relatives was increased (HR: 2.39; 95% CI, 1.24\u20134.61).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>In Denmark, <jats:italic>LDLR<\/jats:italic> mutation-carrying HeFH relatives did not have a different cancer risk than the general population. In contrast, nonmutation-carrying relatives had a lower risk of cancer.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12944-022-01666-2","type":"journal-article","created":{"date-parts":[[2022,7,2]],"date-time":"2022-07-02T13:02:53Z","timestamp":1656766973000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Long-term cancer risk in heterozygous familial hypercholesterolemia relatives: a 25-year cohort study"],"prefix":"10.1186","volume":"21","author":[{"given":"Kasper Aalb\u00e6k","family":"Kj\u00e6rgaard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sixten","family":"Harborg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henrik Kj\u00e6rulf","family":"Jensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Signe","family":"Borgquist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,7,2]]},"reference":[{"issue":"11","key":"1666_CR1","doi-asserted-by":"publisher","first-page":"3956","DOI":"10.1210\/jc.2012-1563","volume":"97","author":"M Benn","year":"2012","unstructured":"Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. 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Jensen is supported by a grant from the Novo Nordisk Foundation, Denmark (NNF18OC0031258). Signe Borgquist is supported by a grant from the Novo Nordisk Foundation, Denmark (NNF18OC0034482 & NNF20OC0065928).The authors declare that they have no other competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"56"}}