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Sporadic mutations benefit from the application of the trio approach, where variants inherited from the parents are eliminated to identify the novel mutations in the proband.
However, patients with EGFR-activating mutations benefit from treatment with EGFR-TKIs (e.g., gefitinb and erlotinib) for less than approximately 1 year, after which drug resistance develops.
It remains unclear why patients with monogenic pain disorders secondary to gain-of-function SCN9a mutations benefit from a low systemic concentration of mexiletine, which does not usually induce adverse neurological side effects.
Since NSCLC patients harbouring EGFR mutations benefit from these specific inhibitors in the first-line setting compared to standard chemotherapy (Mok et al, 2009), and only a small fraction of NSCLCs harbour these mutations, prospective screening for EGFR mutations at the time of diagnosis is becoming common practice (Sharma et al, 2007).
An example of a predictive marker is the presence or absence of K-Ras mutations in colorectal cancers; patients without K-Ras mutations benefit from antiepidermal growth factor receptor therapy, whilst patients with such mutations derive little, if any, benefit [ 83].
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In this study, there was no evidence that patients with G13D mutations benefitted from anti-EGFR antibody treatment.
However, one group has suggested, based on retrospective studies of small cohorts, that patients with tumours harbouring G13D mutations may benefit from therapy with anti-EGFR antibody therapy, suggesting that all codon 12 and 13 mutations may not be equal in terms of their clinical impact (De Roock et al, 2010b).
Infants with these genetic mutations may benefit from switching to oral sulfonylurea therapy.
Therefore, ovarian cancer patients with KRAS or BRAF mutations may benefit from CI-1040 treatment.
It is possible that cell lines with BRAF and PIK3CA mutations may benefit from the combination.
Notably, several retrospective studies suggested that NSCLC patients with positive HER2 mutations may benefit from HER2-targeted therapy [ 64, 92].
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