![]() ![]() Often these genes were included in so-called gene panels evaluated as part of genetic counselling and testing (e.g., Medium penetrance genes could explain about 4% of the twofold increase in familial risk These largely comprise common polymorphisms for which over 150 genomic regions have been identifiedĪccounts for about 16% and low-penetrance genes for about 18% of this familial risk Risk genes are divided into those with high, moderate and low penetrance. This is especially important in situations where patients could possibly be cured without such a regimen.Īll inherited genetic risk factors can explain about 40% of a twofold increased familial risk of breast cancer With triple-negative breast cancer (TNBC), there is a growing understanding of the quality of life and side effects. For other therapies such as immune checkpoint inhibitors, which have successfully improved the rate of pathologic complete response (pCR) in neoadjuvant treatment settings for patients There is also new data on adjuvant CDK4/6 (cyclin-dependent kinase 4/6) inhibitors, which are standard in first-line treatment in patients with metastatic HER2-negative, hormone receptor-positive (HR+) breast cancer. Moreover, the data on treatment selection regarding endocrine efficacy and the decision for or against chemotherapy have also been advanced markedly. A large international consortium has now been able to further refine the answer to the question of the significance of the so-called panel genes. ![]() Recent years have seen a growing body of evidence on the risk of high- and moderate-penetrance breast cancer susceptibility genes. This review summarises not only the latest evidence on prevention, but also the current research on the treatment of early-stage breast cancer patients.
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