{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T08:49:01Z","timestamp":1776329341437,"version":"3.50.1"},"reference-count":0,"publisher":"Universidad Nacional de C\u00f3rdoba","issue":"3","license":[{"start":{"date-parts":[[2022,9,16]],"date-time":"2022-09-16T00:00:00Z","timestamp":1663286400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Fac Cien Med Univ Nac Cordoba"],"abstract":"<jats:p>Introducci\u00f3n: Los s\u00edndromes de predisposici\u00f3n hereditaria al c\u00e1ncer representan un 5-10% de los casos de c\u00e1ncer, el m\u00e1s estudiado es HBOC producido por mutaciones en los genes BRCA1\/2. Objetivos: Describir caracter\u00edsticas cl\u00ednicas, histopatol\u00f3gicas y VP en pacientes con HBOC en C\u00f3rdoba, Argentina y compararla con aquellas sin mutaciones en BRCA1\/2. M\u00e9todos: An\u00e1lisis transversal, correlacional y observacional de pacientes de C\u00f3rdoba. Se utiliz\u00f3 la prueba ANOVA, t de Student, tablas de contingencia y prueba exacta de Fisher, el nivel de significancia fue \u03b1=0,05. Resultados: Se estudiaron 155 mujeres con CM, CO y CM\/CO. Se identificaron 40 mutaciones en BRCA1\/2. No se encontraron diferencias en edad de diagn\u00f3stico entre pacientes con y sin mutaciones en BRCA1\/2. Se encontr\u00f3 asociaci\u00f3n significativa entre VP en BRCA1\/2 y el tipo de c\u00e1ncer (p=0,003); todos los casos con CM\/CO presentaron mutaciones en BRCA1\/2. No se encontr\u00f3 asociaci\u00f3n significativa entre mutados\/no mutados y AP, AF, RE-RP-HER2. El 23.1% y 38.1% de los casos de CM fueron TN en individuos con VP en BRCA 1 y 2 respectivamente. La prevalencia de mutaciones fue 25,8% y la prevalencia de VP noveles del 10,0%. Conclusiones: Las pacientes con CM-VP BRCA1\/2 est\u00e1n asociadas con histolog\u00eda ductal, y menor edad de presentaci\u00f3n con VP BRCA1. No encontramos diferencias significativas en edad de diagn\u00f3stico del CM entre pacientes con mutaciones BRCA1 y BRCA2, se observa una mayor proporci\u00f3n CM TN que en la poblaci\u00f3n en general. En nuestra muestra, la prevalencia de mutaciones en BRCA1\/2 entre los pacientes que re\u00fanen criterios para HBOC es del 25,8%, con 10% de VP noveles.<\/jats:p>","DOI":"10.31053\/1853.0605.v79.n3.34533","type":"journal-article","created":{"date-parts":[[2022,9,20]],"date-time":"2022-09-20T12:29:14Z","timestamp":1663676954000},"page":"228-234","source":"Crossref","is-referenced-by-count":4,"title":["Caracter\u00edsticas cl\u00ednicas de pacientes con C\u00e1ncer de Mama y \/ o C\u00e1ncer de Ovario con mutaciones en los genes BRCA1 y BRCA2 en C\u00f3rdoba, Argentina"],"prefix":"10.31053","volume":"79","author":[{"given":"Claudia Alejandra","family":"Martin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lourdes","family":"Su\u00e1rez Villasmil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adela","family":"Sembaj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabian","family":"Gomez Balangione","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Zunino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia del Carmen","family":"Montes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana","family":"Borello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andres","family":"Del Castillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maximiliano","family":"Zeballos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norma Teresa","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"12333","published-online":{"date-parts":[[2022,9,16]]},"container-title":["Revista de la Facultad de Ciencias M\u00e9dicas de C\u00f3rdoba"],"original-title":[],"link":[{"URL":"https:\/\/revistas.unc.edu.ar\/index.php\/med\/article\/download\/34533\/38756","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/revistas.unc.edu.ar\/index.php\/med\/article\/download\/34533\/38569","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/revistas.unc.edu.ar\/index.php\/med\/article\/download\/34533\/38756","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,20]],"date-time":"2022-09-20T12:29:15Z","timestamp":1663676955000},"score":1,"resource":{"primary":{"URL":"https:\/\/revistas.unc.edu.ar\/index.php\/med\/article\/view\/34533"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,16]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,9,16]]}},"URL":"https:\/\/doi.org\/10.31053\/1853.0605.v79.n3.34533","relation":{},"ISSN":["1853-0605","0014-6722"],"issn-type":[{"value":"1853-0605","type":"electronic"},{"value":"0014-6722","type":"print"}],"subject":[],"published":{"date-parts":[[2022,9,16]]}}}