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Conclusions: Only rare PET cases, harbouring either HER2 amplification or KIT mutation, might benefit from targeted drugs.
Approximately two-thirds of those patients (those with the BRAF mutation) might benefit from targeted therapy with BRAF inhibitors, which have been developed for treatment of metastatic melanoma.
Therefore, men with prostate cancer and NBS1 mutation (or a BRCA2 mutation) might benefit from treatment with cisplatin and PARP1 inhibitors.
If the increased risk of prostate cancer and the development of aggressive tumours are confirmed in further studies of LS families, male gene carriers, especially of an MSH2 mutation might benefit from surveillance.
Although PET lacked activating mutations in most of the screened genes, we showed that rare cases, namely those harbouring either HER2 amplification or KIT mutation, might benefit from available targeted drugs.
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These findings suggest that a subset of breast cancer patients, such as those harboring HER2 somatic mutations, might benefit from HER2-targeted therapies even in the absence of HER2 amplification/overexpression.
The difference in median OS times between MCTs with c-KIT mutations treated with local therapy alone and those treated with vinblastine and prednisone suggests that MCTs with c-KIT mutations also might benefit from postoperative chemotherapy with vinblastine and prednisone.
A recent study by Bose and colleagues suggests that another subset of breast cancer patients without HER2 amplification but with activating HER2 mutation might also benefit from existing HER2-targeted agents and the authors functionally characterize these somatic mutations in experimental models.
Although no abnormal splicing was detectable in JAK2V617F, we believe that most of the mutations recently discovered in MPNs might benefit from our approach to unravel the pathophysiology of MPNs, and better understand the different phenotypic manifestations resulting from the same mutations.
Based on in vitro experiments showing that KRAS mutation is a predictor of oxaliplatin sensitivity in colon cancer cells, it has been suggested that mutant KRAS CRC patients might benefit more from receiving first-line oxaliplatin-based regimens [ 17].
Several findings suggested that this test might occasionally falsely classify other BRAF mutations, missing V600K, and therefore patients who might benefit from therapy with BRAF inhibitors [ 24- 28].
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