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open access
Oncology- comment
Number
one: the implications for the patient are such that this information
might alter future treatments. Preliminary data with PARP inhibitors
indicate a high rate response by individuals with DNA repair defects
treated with these agents. Also preliminary data indicate a higher
response rate with platinum and carboplatin in patients with breast and
ovarian cancer and these mutations; thus, there are therapeutic
implications for the patient who might harbor these individual defects
in his/her germline.
Number two: the second implication is for the patient’s family. There is a 50% risk that germline mutations of this site might be passed on to offspring. In women with BRCA1 or BRCA2 mutations, in particular, there is a very high risk of breast and ovarian cancer accompanying these gene defects. It turns out that the risk of pancreatic cancer, which is difficult to screen for, is also increased.
Number two: the second implication is for the patient’s family. There is a 50% risk that germline mutations of this site might be passed on to offspring. In women with BRCA1 or BRCA2 mutations, in particular, there is a very high risk of breast and ovarian cancer accompanying these gene defects. It turns out that the risk of pancreatic cancer, which is difficult to screen for, is also increased.
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