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1. 上皮成長因子受容体変異を有する進行非小細胞肺癌に対する全身療法systemic therapy for advanced non small cell lung cancer with an activating mutation in the epidermal growth factor receptor [show details]
…incidence of EGFR mutations ranged from 22 to 62 percent. Although EGFR mutations were more common in nonsmokers, the incidence still was 37 percent in regular smokers. The frequency of such mutations was higher …
2. 遺伝子検査の解釈：βグロビン遺伝子（HBB）の鎌状赤血球変異gene test interpretation sickle mutation in the hemoglobin beta locus hbb [show details]
…disease. Unlike a second HBB mutation, which enhances the effect of the sickle mutation, a variant affecting alpha globin generally reduces the severity of the sickle mutation. Individuals with sickle cell …
3. ドライバー変異のない進行非小細胞肺癌のマネージメント：免疫療法management of advanced non small cell lung cancer lacking a driver mutation immunotherapy [show details]
…receptor (EGFR) mutations because increased risk of pulmonary toxicity has been reported when these medications are used together . The approach to advanced NSCLC with driver mutations is discussed in …
4. 多発性内分泌腫瘍2型の臨床症状および診断clinical manifestations and diagnosis of multiple endocrine neoplasia type 2 [show details]
… different RET codon 634 mutations have been described in MEN2A/CLA families , and both dermal and nondermal manifestations segregate with the mutation . These same RET mutations are also found in MEN2A …
5. リ・フラウメニ症候群li fraumeni syndrome [show details]
…diagnosed based upon clinical criteria have a detectable mutation or abnormality in TP53. The absence of a detectable mutation may be due to novel mutations that have not previously been described or to an abnormality …