{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T16:55:26Z","timestamp":1740156926773,"version":"3.37.3"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T00:00:00Z","timestamp":1653955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T00:00:00Z","timestamp":1653955200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002850","name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["1200049"],"award-info":[{"award-number":["1200049"]}],"id":[{"id":"10.13039\/501100002850","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Biol Res"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Driver mutations are the genetic components responsible for tumor initiation and progression. These variants, which may be inherited, influence cancer risk and therefore underlie many familial cancers. The present study examines the potential association between SNPs in driver genes <jats:italic>SF3B1<\/jats:italic> (rs4685), <jats:italic>TBX3<\/jats:italic> (rs12366395, rs8853, and rs1061651) and <jats:italic>MAP3K1<\/jats:italic> (rs72758040) and BC in <jats:italic>BRCA1\/2<\/jats:italic>-negative Chilean families.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The SNPs were genotyped in 486 BC cases and 1258 controls by TaqMan Assay.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Our data do not support an association between rs4685:C\u2009&gt;\u2009T, rs8853:T\u2009&gt;\u2009C, or rs1061651:T\u2009&gt;\u2009C and BC risk. However, the rs12366395-G allele (A\/G\u2009+\u2009G\/G) was associated with risk in families with a strong history of BC (OR\u2009=\u20091.2 [95% CI 1.0\u20131.6] p\u2009=\u20090.02 and OR\u2009=\u20091.5 [95% CI 1.0\u20132.2] <jats:italic>p<\/jats:italic>\u2009=\u20090.02, respectively). Moreover, rs72758040-C was associated with increased risk in cases with a moderate-to-strong family history of BC (OR\u2009=\u20091.3 [95% CI 1.0\u20131.7] <jats:italic>p<\/jats:italic>\u2009=\u20090.02 and OR\u2009=\u20091.3 [95% CI 1.0\u20131.8] <jats:italic>p<\/jats:italic>\u2009=\u20090.03 respectively). Finally, risk was significantly higher in homozygous C\/C cases from families with a moderate-to-strong BC history (OR\u2009=\u20091.8 [95% CI 1.0\u20133.1] <jats:italic>p<\/jats:italic>\u2009=\u20090.03 and OR\u2009=\u20091.9 [95% CI 1.1\u20133.4] <jats:italic>p<\/jats:italic>\u2009=\u20090.01, respectively). We also evaluated the combined impact of rs12366395-G and rs72758040-C. Familial BC risk increased in a dose-dependent manner with risk allele count, reflecting an additive effect (<jats:italic>p<\/jats:italic>-trend\u2009=\u20090.0002).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our study suggests that germline variants in driver genes <jats:italic>TBX3<\/jats:italic> (rs12366395) and <jats:italic>MAP3K1<\/jats:italic> (rs72758040) may influence BC risk in <jats:italic>BRCA1\/2<\/jats:italic>-negative Chilean families. Moreover, the presence of rs12366395-G and rs72758040-C could increase BC risk in a Chilean population.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s40659-022-00384-4","type":"journal-article","created":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T01:02:29Z","timestamp":1653958949000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Heritable genomic diversity in breast cancer driver genes and associations with risk in a Chilean population"],"prefix":"10.1186","volume":"55","author":[{"given":"Sebastian","family":"Morales-Pison","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricio","family":"Gonzalez-Hormazabal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julio C.","family":"Tapia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexis","family":"Salas-Burgos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Ampuero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"G\u00f3mez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrique","family":"Waugh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Miguel","family":"Reyes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilian","family":"Jara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,5,31]]},"reference":[{"key":"384_CR1","unstructured":"Chile Gd. 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December 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 March 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 May 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This research (code ID: FONDECYT 1200049) was performed in accordance with the Helsinki Declaration and was approved by the ethics committee of the University of Chile School of Medicine (Human Research Ethics Committee). Informed consent for this research was conducted under the approval of the ethics committee of the University of Chile School of Medicine. Both informed and written consent were obtained from all study participants.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interest. The funders had no role in the design of the study; in the collection, analysis, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"All data are shown within the manuscript.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Availability of data and materials"}}],"article-number":"20"}}