{"id":17532,"date":"2022-04-28T18:52:33","date_gmt":"2022-04-28T18:52:33","guid":{"rendered":"https:\/\/cancercentertec100.com\/?p=17532"},"modified":"2022-08-25T18:52:23","modified_gmt":"2022-08-25T18:52:23","slug":"notigenetica-variantes-geneticas-en-el-cancer-de-mama","status":"publish","type":"post","link":"https:\/\/cancercentertec100.com\/en\/noti-genetica\/notigenetica-variantes-geneticas-en-el-cancer-de-mama\/","title":{"rendered":"NOTI-GENETICS: genetic Variants in breast cancer"},"content":{"rendered":"<p class=\"has-color-4-color has-text-color\">By: Dr. Gildardo Fco. Zafra de la Rosa.<\/p>\n\n\n\n<p>A la fecha se han podido identificar la mayor\u00eda de los genes involucrados en diferentes tipos de c\u00e1ncer. As\u00ed, en el c\u00e1ncer de mama se han determinado variantes gen\u00e9ticas en alrededor de 30 genes, de los cuales del 5 al 10% no son hereditarios ya que la mutaci\u00f3n ocurre in situ y cerca del 15% la alteraci\u00f3n viaja en c\u00e9lulas gonadales transmiti\u00e9ndose de generaci\u00f3n en generaci\u00f3n. En este caso la mutaci\u00f3n se encuentra en los tejidos corporales, incluyendo la sangre, es por ese motivo que la mutaci\u00f3n se puede encontrar en muestras sangu\u00edneas. Se considera que tiene un patr\u00f3n familiar, toda vez que haya uno o varios familiares de primer o segundo grado con c\u00e1ncer, aun cuando no haya una l\u00ednea directa de presentaci\u00f3n en el \u00e1rbol geneal\u00f3gico.<\/p>\n\n\n\n<p>Los genes relacionados con c\u00e1ncer de mama que confieren una gran susceptibilidad de m\u00e1s del 50% son los BRCA, CDH1, NF1, PTEN, TP53 y STK11. Podemos decir que los genes ATM, BRIP1, CHEK2, PALB2, RAD50 y NBS1 confieren una susceptibilidad media de entre 20 al 50% y los genes FGFR2, LSP1, MAP3K1, TGFB1 y TOX3 son considerados de baja susceptibilidad (&lt;20%). Adem\u00e1s, debemos agregar los genes de susceptibilidad al c\u00e1ncer cuyo protagonista principal es el TP53.<\/p>\n\n\n\n<p>Con mucho, las mutaciones en los genes BRCA 1 y BRCA2 son las m\u00e1s frecuentes y de alto riesgo. Normalmente los genes BRCA 1 y BRCA2 son genes supresores tumorales que contribuyen en la reparaci\u00f3n del ADN cuando resulta da\u00f1ado por agentes carcinog\u00e9nicos, pero tambi\u00e9n regulan la transcripci\u00f3n de otros genes y en el mecanismo de recombinaci\u00f3n de genes durante el ciclo celular.&nbsp;<\/p>\n\n\n\n<p>Se ha reconocido que la expresi\u00f3n de estos genes es variable en familias a\u00fan con la misma mutaci\u00f3n, ya que unos individuos pueden tener solo un tumor primario y otros pueden tener dos o tres. Lo cual ha dado pie a investigar la correlaci\u00f3n genotipo\/fenotipo, de tal manera que de acuerdo a la posici\u00f3n de la mutaci\u00f3n en la cadena se pueda saber que pron\u00f3stico de desarrollo tumoral tendr\u00e1n los pacientes.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"683\" src=\"https:\/\/cancercentertec100.com\/wp-content\/uploads\/2022\/04\/young-adult-female-cancer-patient-spending-time-with-her-daughter-at-home-1024x683.jpg\" alt=\"\" class=\"wp-image-17533\" srcset=\"https:\/\/cancercentertec100.com\/wp-content\/uploads\/2022\/04\/young-adult-female-cancer-patient-spending-time-with-her-daughter-at-home-1024x683.jpg 1024w, https:\/\/cancercentertec100.com\/wp-content\/uploads\/2022\/04\/young-adult-female-cancer-patient-spending-time-with-her-daughter-at-home-300x200.jpg 300w, https:\/\/cancercentertec100.com\/wp-content\/uploads\/2022\/04\/young-adult-female-cancer-patient-spending-time-with-her-daughter-at-home-768x512.jpg 768w, https:\/\/cancercentertec100.com\/wp-content\/uploads\/2022\/04\/young-adult-female-cancer-patient-spending-time-with-her-daughter-at-home-580x387.jpg 580w, https:\/\/cancercentertec100.com\/wp-content\/uploads\/2022\/04\/young-adult-female-cancer-patient-spending-time-with-her-daughter-at-home-860x574.jpg 860w, https:\/\/cancercentertec100.com\/wp-content\/uploads\/2022\/04\/young-adult-female-cancer-patient-spending-time-with-her-daughter-at-home-1160x774.jpg 1160w, https:\/\/cancercentertec100.com\/wp-content\/uploads\/2022\/04\/young-adult-female-cancer-patient-spending-time-with-her-daughter-at-home-1320x881.jpg 1320w, https:\/\/cancercentertec100.com\/wp-content\/uploads\/2022\/04\/young-adult-female-cancer-patient-spending-time-with-her-daughter-at-home.jpg 1400w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>","protected":false},"excerpt":{"rendered":"<p>A la fecha se han podido identificar la mayor\u00eda de los genes involucrados en diferentes tipos de c\u00e1ncer. As\u00ed, en el c\u00e1ncer de mama se han determinado variantes gen\u00e9ticas en alrededor de 30 genes&#8230; <\/p>","protected":false},"author":1,"featured_media":17534,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[293],"tags":[306,26,33,46,305,312,303,313,314,307,308,311,315,316,310],"class_list":["post-17532","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noti-genetica","tag-brca","tag-cancer","tag-cancer-center","tag-cancer-de-mama","tag-cdh1","tag-fgfr2","tag-genoma","tag-lsp1","tag-map3k1","tag-nf1","tag-pten","tag-stk11","tag-tgfb1","tag-tox3","tag-tp53"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>NOTI-GEN\u00c9TICA: Variantes gen\u00e9ticas en el c\u00e1ncer de mama<\/title>\n<meta name=\"description\" content=\"A la fecha se han podido identificar la mayor\u00eda de los genes involucrados en diferentes tipos de c\u00e1ncer. 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Thus, in breast cancer have been identified genetic variants in about 30 genes...","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/cancercentertec100.com\/en\/noti-genetica\/notigenetica-variantes-geneticas-en-el-cancer-de-mama\/","og_locale":"en_US","og_type":"article","og_title":"NOTI-GEN\u00c9TICA: Variantes gen\u00e9ticas en el c\u00e1ncer de mama","og_description":"A la fecha se han podido identificar la mayor\u00eda de los genes involucrados en diferentes tipos de c\u00e1ncer. 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