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Numeroasele studii efectuate au aratat ca mutatiile genelor Hpv warts labia si BRCA2 care afecteaza linia germinala sunt responsabile de ovarian cancer is it genetic majoritate a cancerelor ereditare de san si ovar1;7. Desi persoanele cu HBOC mostenesc o alela BRCA1 sau BRCA2 defectuoasa de la unul dintre parinti, acestia prezinta o a doua alela functionala; in cazul in care si cea de-a doua alela devine nefunctionala  se dezvolta procesul neoplazic, prin acumularea de mutatii aditionale. Aceste tipuri de mutatii au fost identificate predominant la evreii Ashkenazi din Europa de Estcanadienii francezi si la islandezi1. Proteina BRCA1 este o fosfoproteina nucleara cu rol important in mentinerea stabilitatii genomice si in supresia tumorala; impreuna cu alte proteine supresoare ale tumorilor sau cu rol in transmiterea semnalului celular, formeaza un complex cu subunitati multiple  denumit BASC BRCA1-asociated genome surveillance complex ; de asemenea se asociaza cu ARN polimeraza II intervenind astfel in transcriptie, repararea ADN-lui dublu catenar, precum si in recombinare.

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Cancerul ovarian si mutatiile BRCA Importanta mutatiilor genetice in evolutia cancerului ovarian Aflati cum va puteti imbunatatiti perspectivele cu un simplu test Cancerul ovarian este relativ rar locul 5 ca incidenta intre cancerele feminineinsa datorita simptomelor nespecifice, tinde sa fie diagnosticat in faze avansate. Mutatiile genetice joaca un rol important in determinarea riscurilor de aparitie, dar si de evolutie a bolii.

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Urmariti acest filmulet pentru a vedea cat este de simplu sa recoltati o proba de saliva. Testul analizeaza peste de modificari ale genelor BRCA și a altor 17 gene frecvent asociate cu riscul de cancer de sân, ovarian și endometrial.

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