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Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA

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JOURNAL OF ONCOLOGY
卷 2020, 期 -, 页码 -

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HINDAWI LTD
DOI: 10.1155/2020/6384190

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  1. Angela Serra Association for Cancer Research

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BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndromes are among the best-known and most extensively studied hereditary cancer syndromes. Nevertheless, many patients who proved negative at BRCA genetic testing bring pathogenic mutations in other suppressor genes and oncogenes associated with hereditary breast and/or ovarian cancers. These genes includeTP53in Li-Fraumeni syndrome,PTENin Cowden syndrome, mismatch repair (MMR) genes in Lynch syndrome,CDH1in diffuse gastric cancer syndrome,STK11in Peutz-Jeghers syndrome, andNF1in neurofibromatosis type 1 syndrome. To these, several other genes can be added that act jointly withBRCA1andBRCA2in the double-strand break repair system, such asPALB2,ATM,CHEK2,NBN,BRIP1,RAD51C,andRAD51D. Management of primary and secondary cancer prevention in these hereditary cancer syndromes is crucial. In particular, secondary prevention by screening aims to discover precancerous lesions or cancers at their initial stages because early detection could allow for effective treatment and a full recovery. The present review aims to summarize the available literature and suggest proper screening strategies for hereditary breast and/or ovarian cancer syndromes other than BRCA.

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