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1篇 您的检索式:作者名="Alexandr O Ivantsov"
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1Hereditary cancer syndromes显示文摘Hereditary cancer syndromes(HCSs)are arguably the most frequent category of Mendelian genetic diseases,as at least 2%of presumably healthy subjects carry highly-penetrant tumor-predisposing pathogenic variants(PVs).Hereditary breast-ovarian cancer and Lynch syndrome make the highest contribution to cancer morbidity;in addition,there are several dozen less frequent types of familial tumors.The development of the majority albeit not all hereditary malignancies involves two-hit mechanism,i.e.the somatic inactivation of the remaining copy of the affected gene.Earlier studies on cancer families suggested nearly fatal penetrance for the majority of HCS genes;however,population-based investigations and especially large-scale next-generation sequencing data sets demonstrate that the presence of some highly-penetrant PVs is often compatible with healthy status.Hereditary cancer research initially focused mainly on cancer detection and prevention.Recent studies identified multiple HCS-specific drug vulnerabilities,which translated into the development of highly efficient therapeutic options.Evgeny N Imyanitov Ekaterina S Kuligina Anna P Sokolenko Evgeny N Suspitsin Grigoriy A Yanus Aglaya G Iyevleva Alexandr O Ivantsov Svetlana N Aleksakhina 2023World Journal of Clinical Oncology2023,14,2:0
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