Genetic testing for cancer risk in women's health

Obstetrics, Gynaecology & Reproductive Medicine(2019)

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摘要
Identifying people with an increased risk of developing cancer allows prophylactic surgery or screening to be offered, to try to reduce the chance of cancer developing or to detect it earlier. Family history information may indicate who should be assessed for cancer predisposition syndromes, but individual clinical and tumour characteristics are equally important to consider. Technological advances have expanded the availability of genetic analysis, which is now becoming mainstreamed into cancer diagnostic pathways. Identifying inherited mutations in cancer predisposition genes or somatic genetic variants within cancers has important implications for treatment decisions. Genomic analysis of tumours will increasingly be exploited to enable more accurate diagnosis, prognosis and targeted therapies with improved patient outcomes.
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关键词
cancer genetics,genomics,mainstreaming
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