{"id":23541,"date":"2022-04-11T13:14:18","date_gmt":"2022-04-11T16:14:18","guid":{"rendered":"https:\/\/femama.org.br\/site\/?p=23541"},"modified":"2024-07-28T18:55:45","modified_gmt":"2024-07-28T21:55:45","slug":"conheca-a-mutacao-genetica-do-cancer-de-mama-pik3ca","status":"publish","type":"post","link":"https:\/\/femama.org.br\/site\/noticias-recentes\/conheca-a-mutacao-genetica-do-cancer-de-mama-pik3ca\/","title":{"rendered":"Conhe\u00e7a a muta\u00e7\u00e3o gen\u00e9tica do c\u00e2ncer de mama PIK3CA"},"content":{"rendered":"<p><span style=\"font-weight: 400;\">O c\u00e2ncer \u00e9 originado por uma altera\u00e7\u00e3o no DNA das c\u00e9lulas: as muta\u00e7\u00f5es, por isso, existem diversos tipos de muta\u00e7\u00e3o gen\u00e9tica do c\u00e2ncer de mama. Uma das formas \u201cinteligentes\u201d que o c\u00e2ncer utiliza para continuar a se multiplicar \u00e9 a muta\u00e7\u00e3o no gene PIK3CA.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Muta\u00e7\u00f5es acontecem com frequ\u00eancia e podem ser causadas, por exemplo, por erros durante a divis\u00e3o celular. No caso da modifica\u00e7\u00e3o de genes PIK3CA, diferentemente de outras que s\u00e3o heredit\u00e1rias, como a BRCA 1\/2, n\u00e3o \u00e9 transmitida aos descendentes, e est\u00e1 presente apenas no tumor.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">De maneira geral, a muta\u00e7\u00e3o gen\u00e9tica do c\u00e2ncer de mama PIK3CA se encontra em pacientes com c\u00e2ncer tipo HR+\/HER2-, tamb\u00e9m conhecido como horm\u00f4nio-positivos, atingindo cerca de 40% das pessoas com esse tipo de c\u00e2ncer e parece estar relacionada ao crescimento da doen\u00e7a.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">O que \u00e9 a muta\u00e7\u00e3o gen\u00e9tica do c\u00e2ncer de mama PIK3CA?<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">Cerca de 40% dos pacientes com c\u00e2ncer de mama avan\u00e7ado HR+\/HER2- t\u00eam uma muta\u00e7\u00e3o que pode ativar a PI3K-alfa, denominada muta\u00e7\u00e3o PIK3CA. Este \u00e9 o gene mais frequentemente mutado no c\u00e2ncer de mama avan\u00e7ado. A altera\u00e7\u00e3o est\u00e1 relacionada \u00e0 resist\u00eancia \u00e0 terapia end\u00f3crina e \u00e0 <\/span><a href=\"https:\/\/www.femama.org.br\/site\/br\/noticia\/conheca-as-possibilidades-de-tratamento-para-o-cancer-de-mama?t=1642685175\"><span style=\"font-weight: 400;\">progress\u00e3o da doen\u00e7a por meio da met\u00e1stase<\/span><\/a><span style=\"font-weight: 400;\">.\u00a0<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Qual a import\u00e2ncia de saber qual muta\u00e7\u00e3o voc\u00ea tem?<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">Assim como a presen\u00e7a ou aus\u00eancia das prote\u00ednas estr\u00f3geno, progesterona e HER2 auxiliam a determinar o tipo de c\u00e2ncer de mama, ter ou n\u00e3o ter a muta\u00e7\u00e3o no gene PIK3CA, trar\u00e1 para voc\u00ea e seu m\u00e9dico uma informa\u00e7\u00e3o fundamental sobre o crescimento do seu tumor.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Pacientes com c\u00e2ncer de mama hormonal positivo no cen\u00e1rio avan\u00e7ado\/metast\u00e1tico podem fazer o exame para descobrir se t\u00eam a muta\u00e7\u00e3o gen\u00e9tica do c\u00e2ncer de mama PIK3CA.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">A presen\u00e7a de uma muta\u00e7\u00e3o espec\u00edfica torna a paciente eleg\u00edvel ao tratamento com medicamentos que atuam especificamente com os genes ou prote\u00ednas alteradas das c\u00e9lulas do c\u00e2ncer de mama , estes tratamentos s\u00e3o chamados: <\/span><a href=\"https:\/\/www.femama.org.br\/site\/br\/noticia\/tipos-de-tratamento-para-cancer-de-mama?t=1642685206\"><span style=\"font-weight: 400;\">terapias-alvo<\/span><\/a><span style=\"font-weight: 400;\">.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Elas agem para diminuir ou interromper a a\u00e7\u00e3o das c\u00e9lulas cancer\u00edgenas. Por atuar diretamente na prote\u00edna espec\u00edfica, \u00e9 poss\u00edvel maior conserva\u00e7\u00e3o de c\u00e9lulas saud\u00e1veis e menos efeitos\u00a0 colaterais.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">O tratamento por terapia-alvo \u00e9 espec\u00edfico e personalizado para cada caso, sendo poss\u00edvel quando m\u00e9dicos t\u00eam acesso a tipos de prote\u00ednas, muta\u00e7\u00f5es e receptores hormonais atrav\u00e9s de exames, especialmente os gen\u00e9ticos germinativos (aqueles que identificam se s\u00e3o heredit\u00e1rios)\u00a0 e os\u00a0 gen\u00f4micos tumorais (aqueles que identificam as altera\u00e7\u00f5es adquiridas chamadas muta\u00e7\u00f5es som\u00e1ticas).\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">A terapia-alvo surge como uma esperan\u00e7a para as pacientes com c\u00e2ncer de mama metast\u00e1tico, controlando a doen\u00e7a de maneira menos agressiva. Para realizar o <\/span><a href=\"https:\/\/www.femama.org.br\/site\/br\/noticia\/requerimento-de-urgencia-e-aprovado-pl-dos-testes-geneticos-sera-votado-no-plenario-da-camara\"><span style=\"font-weight: 400;\">teste gen\u00e9tico<\/span><\/a><span style=\"font-weight: 400;\"> da muta\u00e7\u00e3o PIK3CA, o m\u00e9dico respons\u00e1vel coleta uma amostra de \u00a0 tecido\u00a0 tumoral que ser\u00e1 testada quanto a\u00a0 determinadas altera\u00e7\u00f5es\u00a0 (muta\u00e7\u00f5es)\u00a0 em\u00a0 um\u00a0 gene chamado\u00a0 PIK3.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">\u00c9 poss\u00edvel realizar esse teste no SUS e nos planos de sa\u00fade?<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">A Federa\u00e7\u00e3o Brasileira de Institui\u00e7\u00f5es Filantr\u00f3picas de Apoio \u00e0 Sa\u00fade da Mama (FEMAMA) atua intensivamente na tentativa de\u00a0 agilizar a tramita\u00e7\u00e3o do\u00a0 <\/span><a href=\"https:\/\/www.femama.org.br\/site\/br\/noticia\/requerimento-de-urgencia-e-aprovado-pl-dos-testes-geneticos-sera-votado-no-plenario-da-camara?t=1642685833\"><span style=\"font-weight: 400;\">PL 265\/2020<\/span><\/a><span style=\"font-weight: 400;\"> &#8211; proposto pela institui\u00e7\u00e3o -que tem por objetivo atribuir ao Sistema \u00danico de Sa\u00fade (SUS) o dever de custear a realiza\u00e7\u00e3o de <\/span><a href=\"https:\/\/www.femama.org.br\/site\/br\/noticia\/live-da-femama-trata-sobre-a-importancia-dos-testes-geneticos-e-genomicos-para-prevencao-diagnostico-precoce-e-personalizacao-do-tratamento-do-cancer-de-mama-?t=1642686360\"><span style=\"font-weight: 400;\">testes gen\u00e9ticos germinativos e gen\u00f4micos tumorais<\/span><\/a><span style=\"font-weight: 400;\"> para fins de preven\u00e7\u00e3o, diagn\u00f3stico precoce e tratamento personalizado dos c\u00e2nceres de mama e <\/span><a href=\"https:\/\/www.femama.org.br\/site\/br\/noticia\/ultima-live-do-ano-da-femama-fala-sobre-o-cancer-de-ovario?t=1642686342\"><span style=\"font-weight: 400;\">ov\u00e1rio<\/span><\/a><span style=\"font-weight: 400;\">.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Os testes gen\u00e9ticos germinativos destinam-se a identi\u00adficar muta\u00e7\u00f5es em genes espec\u00ed\u00adficos, a exemplo dos genes BRCA1 e BRCA2. Esses genes s\u00e3o marcadores da s\u00edndrome heredit\u00e1ria dos c\u00e2nceres de mama e de ov\u00e1rio e sua fun\u00e7\u00e3o consiste em impedir o surgimento de tumores.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">J\u00e1 os testes gen\u00f4micos tumorais permitem maior informa\u00e7\u00e3o sobre o progn\u00f3stico da paciente j\u00e1 diagnosticada (probabilidade de recidiva, orientando o melhor seguimento cl\u00ednico), bem como as melhores decis\u00f5es terap\u00eauticas, que passam a ser personalizadas.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Por enquanto, o Projeto de Lei est\u00e1 aguardando a delibera\u00e7\u00e3o no Plen\u00e1rio da C\u00e2mara e depois segue para tramita\u00e7\u00e3o no Senado Federal. At\u00e9 o momento n\u00e3o \u00e9 poss\u00edvel realizar o teste de muta\u00e7\u00e3o gen\u00e9tica do c\u00e2ncer de mama PIK3CA pelo SUS, tampouco nos planos de sa\u00fade, uma vez que a testagem gen\u00f4mica n\u00e3o est\u00e1 incorporada na lista m\u00ednima de cobertura obrigat\u00f3ria dos planos de sa\u00fade, regulada pela ANS.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Tratamento para a muta\u00e7\u00e3o PIK3CA<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">Quem tem a muta\u00e7\u00e3o gen\u00e9tica do c\u00e2ncer de mama PIK3CA pode ser tratado com uma droga oral pertencente \u00e0 classe\u00a0 de\u00a0 medicamentos\u00a0 chamada\u00a0 de inibidores\u00a0 das enzimas\u00a0 fosfatidilinositol-3-quinase\u00a0 (PI3K). Ele age bloqueando\u00a0 os seus\u00a0 efeitos, evitando que c\u00e9lulas\u00a0 cancer\u00edgenas\u00a0 cres\u00e7am\u00a0 e se\u00a0 multipliquem.\u00a0\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Assim, reduz-se o\u00a0 crescimento\u00a0 e a capacidade\u00a0 do\u00a0 corpo\u00a0 de formar\u00a0 novas\u00a0 c\u00e9lulas cancer\u00edgenas,\u00a0 al\u00e9m\u00a0 de\u00a0 contribuir para a elimina\u00e7\u00e3o dessas\u00a0 c\u00e9lulas.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Saber mais sobre o seu c\u00e2ncer \u00e9 a melhor forma de saber como trat\u00e1-lo. Entre em contato com o seu m\u00e9dico e tenha acesso a mais informa\u00e7\u00f5es.<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>O c\u00e2ncer \u00e9 originado por uma altera\u00e7\u00e3o no DNA das c\u00e9lulas: as muta\u00e7\u00f5es, por isso, existem diversos tipos de muta\u00e7\u00e3o gen\u00e9tica do c\u00e2ncer de mama. Uma das formas \u201cinteligentes\u201d que o c\u00e2ncer utiliza para continuar a se multiplicar \u00e9 a muta\u00e7\u00e3o no gene PIK3CA. Muta\u00e7\u00f5es acontecem com frequ\u00eancia e podem ser causadas, por exemplo, por [&hellip;]<\/p>\n","protected":false},"author":7,"featured_media":23547,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[18,13],"tags":[],"class_list":["post-23541","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-cancer-de-mama","category-noticias-recentes"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Conhe\u00e7a a muta\u00e7\u00e3o gen\u00e9tica do c\u00e2ncer de mama PIK3CA | FEMAMA<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/femama.org.br\/site\/noticias-recentes\/conheca-a-mutacao-genetica-do-cancer-de-mama-pik3ca\/\" \/>\n<meta property=\"og:locale\" content=\"pt_BR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Conhe\u00e7a a muta\u00e7\u00e3o gen\u00e9tica do c\u00e2ncer de mama PIK3CA | FEMAMA\" \/>\n<meta property=\"og:description\" content=\"O c\u00e2ncer \u00e9 originado por uma altera\u00e7\u00e3o no DNA das c\u00e9lulas: as muta\u00e7\u00f5es, por isso, existem diversos tipos de muta\u00e7\u00e3o gen\u00e9tica do c\u00e2ncer de mama. Uma das formas \u201cinteligentes\u201d que o c\u00e2ncer utiliza para continuar a se multiplicar \u00e9 a muta\u00e7\u00e3o no gene PIK3CA. Muta\u00e7\u00f5es acontecem com frequ\u00eancia e podem ser causadas, por exemplo, por [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/femama.org.br\/site\/noticias-recentes\/conheca-a-mutacao-genetica-do-cancer-de-mama-pik3ca\/\" \/>\n<meta property=\"og:site_name\" content=\"FEMAMA\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/femamabrasil\" \/>\n<meta property=\"article:published_time\" content=\"2022-04-11T16:14:18+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2024-07-28T21:55:45+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/femama.org.br\/site\/wp-content\/uploads\/2022\/04\/Artigo-pik3ca-FEMAMA-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1600\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Femama\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" 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