{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T23:52:05Z","timestamp":1788911525054,"version":"build-2803163510"},"reference-count":30,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T00:00:00Z","timestamp":1676592000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico (FONDECYT)","award":["1200049"],"award-info":[{"award-number":["1200049"]}]},{"name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico (FONDECYT)","award":["1160889"],"award-info":[{"award-number":["1160889"]}]},{"name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico (FONDECYT)","award":["85220068"],"award-info":[{"award-number":["85220068"]}]},{"name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico (FONDECYT)","award":["EQY220014"],"award-info":[{"award-number":["EQY220014"]}]},{"name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico (FONDECYT)","award":["FOVI220131"],"award-info":[{"award-number":["FOVI220131"]}]},{"name":"ANID SUBVENCI\u00d3N A INSTALACI\u00d3N EN LA ACADEMIA CONVOCATORIA A\u00d1O 2022","award":["1200049"],"award-info":[{"award-number":["1200049"]}]},{"name":"ANID SUBVENCI\u00d3N A INSTALACI\u00d3N EN LA ACADEMIA CONVOCATORIA A\u00d1O 2022","award":["1160889"],"award-info":[{"award-number":["1160889"]}]},{"name":"ANID SUBVENCI\u00d3N A INSTALACI\u00d3N EN LA ACADEMIA CONVOCATORIA A\u00d1O 2022","award":["85220068"],"award-info":[{"award-number":["85220068"]}]},{"name":"ANID SUBVENCI\u00d3N A INSTALACI\u00d3N EN LA ACADEMIA CONVOCATORIA A\u00d1O 2022","award":["EQY220014"],"award-info":[{"award-number":["EQY220014"]}]},{"name":"ANID SUBVENCI\u00d3N A INSTALACI\u00d3N EN LA ACADEMIA CONVOCATORIA A\u00d1O 2022","award":["FOVI220131"],"award-info":[{"award-number":["FOVI220131"]}]},{"name":"ANID FONDEQUIP","award":["1200049"],"award-info":[{"award-number":["1200049"]}]},{"name":"ANID FONDEQUIP","award":["1160889"],"award-info":[{"award-number":["1160889"]}]},{"name":"ANID FONDEQUIP","award":["85220068"],"award-info":[{"award-number":["85220068"]}]},{"name":"ANID FONDEQUIP","award":["EQY220014"],"award-info":[{"award-number":["EQY220014"]}]},{"name":"ANID FONDEQUIP","award":["FOVI220131"],"award-info":[{"award-number":["FOVI220131"]}]},{"name":"ANID Vinculaci\u00f3n Internacional","award":["1200049"],"award-info":[{"award-number":["1200049"]}]},{"name":"ANID Vinculaci\u00f3n Internacional","award":["1160889"],"award-info":[{"award-number":["1160889"]}]},{"name":"ANID Vinculaci\u00f3n Internacional","award":["85220068"],"award-info":[{"award-number":["85220068"]}]},{"name":"ANID Vinculaci\u00f3n Internacional","award":["EQY220014"],"award-info":[{"award-number":["EQY220014"]}]},{"name":"ANID Vinculaci\u00f3n Internacional","award":["FOVI220131"],"award-info":[{"award-number":["FOVI220131"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Breast cancer (BC) is the most common cancer among women worldwide. BRCA1\/2 are responsible for 16\u201320% of the risk for hereditary BC. Other susceptibility genes have been identified; Fanconi Anemia Complementation Group M (FANCM) being one of these. Two variants in FANCM, rs144567652 and rs147021911, are associated with BC risk. These variants have been described in Finland, Italy, France, Spain, Germany, Australia, the United States, Sweden, Finnish, and the Netherlands, but not in the South American populations. Our study evaluated the association of the SNPs rs144567652 and rs147021911 with BC risk in non-carriers of BRCA1\/2 mutations from a South American population. The SNPs were genotyped in 492 BRCA1\/2-negative BC cases and 673 controls. Our data do not support an association between FANCM rs147021911 and rs144567652 SNPs and BC risk. Nevertheless, two BC cases, one with a family history of BC and the other with sporadic early-onset BC, were C\/T heterozygotes for rs144567652. In conclusion, this is the first study related contribution of FANCM mutations and BC risk in a South American population. Nevertheless, more studies are necessary to evaluate if rs144567652 could be responsible for familial BC in BRCA1\/2-negatives and for early-onset non-familial BC in Chilean BC cases.<\/jats:p>","DOI":"10.3390\/ijms24044041","type":"journal-article","created":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T01:59:24Z","timestamp":1676599164000},"page":"4041","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population"],"prefix":"10.3390","volume":"24","author":[{"given":"Sebastian","family":"Morales-Pison","sequence":"first","affiliation":[{"name":"Centro de Oncolog\u00eda de Precisi\u00f3n (COP), Universidad Mayor, Santiago 7560908, Chile"},{"name":"Facultad de Medicina y Ciencias de la Salud, Universidad Mayor, Santiago 7560908, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarai","family":"Morales-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica Humana, Programa de Gen\u00e9tica Humana, Instituto de Ciencias Biom\u00e9dicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago 783090, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Fernandez-Ramires","sequence":"additional","affiliation":[{"name":"Facultad de Medicina y Ciencias de la Salud, Universidad Mayor, Santiago 7560908, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1678-2708","authenticated-orcid":false,"given":"Julio C.","family":"Tapia","sequence":"additional","affiliation":[{"name":"Laboratorio de Transformaci\u00f3n Celular, Programa de Biolog\u00eda Celular y Molecular, Instituto de Ciencias Biom\u00e9dicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago 783090, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edio","family":"Maldonado","sequence":"additional","affiliation":[{"name":"Programa de Biolog\u00eda Celular y Molecular, Instituto de Ciencias Biom\u00e9dicas, Facultad de Medicina, Universidad de Chile, Santiago 783090, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria M.","family":"Calaf","sequence":"additional","affiliation":[{"name":"Instituto de Alta Investigaci\u00f3n, Universidad de Tarapac\u00e1, Arica 1010069, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilian","family":"Jara","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica Humana, Programa de Gen\u00e9tica Humana, Instituto de Ciencias Biom\u00e9dicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago 783090, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"394","DOI":"10.3322\/caac.21492","article-title":"Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries","volume":"68","author":"Bray","year":"2018","journal-title":"CA Cancer J. 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