Rapid and cost effective screening of breast and ovarian cancer genes using novel sequence capture method in clinical samples
作者： Kristóf Árvai , Péter Horváth , Bernadett Balla , Anna M. Tőkés , Bálint Tobiás
DOI: 10.1007/S10689-014-9730-7
关键词: Human genetics 、 Genetic testing 、 Cohort 、 Internal medicine 、 Ovarian cancer 、 Medicine 、 Risk assessment 、 Breast cancer 、 Gene 、 Oncology 、 DNA sequencing
摘要: BRCA1 and BRCA2 are two well-known genes in the background of hereditary breast ovarian cancer. There is also evidence that several other play an important role pathogenesis these malignancies. Latest population-scaled studies showed certain mutations different could cause similar risk elevation like mutations. In this study we present a new method to analyse assessment women Using Haloplex, novel sequence capture combined with next-generation sequencing were able perform rapid cost-effective screening 16 be associated increased The cost effective analysis 16-gene cohort can reveal genetic approximately 30 % familiar cases cancers. Thus, it opens up high-throughput approach fast turnaround time diagnostics disorders may helpful investigate familial as well.
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