Genetic testing in ovarian cancer
نویسندگان
چکیده
Karcinom ovaria je onemocnÄnĂ s vĂ˝znamnou dÄdiÄnou komponentou. DÄdiÄnou mutaci v klinicky relevantnĂch genech nachĂĄzĂme naĹĄĂ populaci u kaĹždĂŠ ÄtvrtĂŠ pacientky. Proto ke genetickĂŠmu vyĹĄetĹenĂ zĂĄrodeÄnĂ˝ch mutacĂ indikovĂĄna kaĹždĂĄ pacientka tĂmto onemocnÄnĂm (epiteliĂĄlnĂ zhoubnĂ˝ nĂĄdor vajeÄnĂku, vejcovodu nebo peritonea), bez ohledu na histopatologickĂ˝ typ tumoru Äi vÄk dobÄ diagnĂłzy. GenetickĂŠ mĂĄ pro samotnou pacientku vĂ˝znam prognostickĂ˝ i prediktivnĂ. U tĂŠmÄĹ pĂĄtĂŠ nemocnĂŠ (aĹž 20 % vĹĄech pacientek karcinomem ovaria) diagnostikujeme pĹĂtomnost patogennĂ zĂĄrodeÄnĂŠ mutace BRCA1 a BRCA2. NosiÄky BRCA2 zpravidla lĂŠpe odpovĂdajĂ lĂŠÄbu platinovĂ˝mi derivĂĄty, tato lĂŠÄba mĹŻĹže bĂ˝t uplatnÄna ve vyĹĄĹĄĂch liniĂch. navĂc umoĹžĹuje cĂlenĂŠ genetickĂŠ poradenstvĂ rodinÄ pacientky, identifikaci osob riziku odpovĂdajĂcĂ dispenzarizaci nosiÄĹŻ cĂlem prevence / ÄasnĂŠ diagnostiky souvisejĂcĂch nĂĄdorovĂ˝ch onemocnÄnĂ. ZĂĄrodeÄnĂĄ, ale somatickĂĄ genĹŻ takĂŠ hrĂĄt roli rozvaze o indikaci konkrĂŠtnĂho inhibitoru poly-ADP-ribĂłzapolymerĂĄzy (PARPi). SomatickĂŠ dalĹĄĂch 5-9 Ĺžen touto diagnĂłzou. SoubÄĹžnĂŠ somatickĂ˝ch umoĹžnĂ zefektivnit pacientek, kterĂŠ jsou potenciĂĄlnĂmi kandidĂĄtkami jeden z typĹŻ udrĹžovacĂ lĂŠÄby PARPi, zĂĄroveĹ odhalit zdravĂŠ pĹĂbuznĂŠ vysokĂŠm vzniku pĹedevĹĄĂm karcinomu prsu ovaria.
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ژورنال
عنوان ژورنال: Onkologie
سال: 2022
ISSN: ['1803-5345', '1802-4475']
DOI: https://doi.org/10.36290/xon.2022.037