The genetic prediction of risk for gynecologic cancers
作者： Leslie M. Randall , Bhavana Pothuri
DOI: 10.1016/J.YGYNO.2016.03.007
关键词: Lynch syndrome 、 Genetic counseling 、 MSH6 、 Cancer 、 Personalized medicine 、 Oncology 、 Medicine 、 Internal medicine 、 Ovarian cancer 、 Uterine cancer 、 Gynecology 、 Endometrial cancer
摘要: Salient to the intent of personalized medicine, hereditary cancer syndromes present significant opportunities in treatment and prevention some gynecologic cancers. Mutations BRCA1, BRCA2, DNA mismatch repair genes: MLH1, MSH2, MSH6, PMS2 are important causal agents breast ovarian (HBOC) Lynch syndromes. Though they only account for an estimated 10-18% ovarian, tubal, peritoneal, endometrial cases, inherited cancers imminently preventable if mutation carriers identified a timely manner. Population level screening is currently impractical due low prevalence disease, cost testing, ethical issues associated with so diagnosis these mutations limited. Being affected by one heritable malignancies logical entry point into genetic counseling testing pipeline patient her family members. Thus, providers uniquely positioned diagnose germline that can inform prognosis their patients addition enabling patients' cancer-unaffected blood relatives, or "previvors". The purpose this review describe our current perspective on implications women
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