PIK3CA EXON 21 MUTATION

PIK3CA外显子21突变（如H1047R；如果只计算编码外显子，通常称为外显子20突变）是癌症，特别是乳腺癌中最常见的突变。在PIK3CA突变型乳腺癌中，有一半以上含有这种突变。荟萃分析表明，携带这种突变的患者总体存活率可能更差，但从预后的角度来看，其他研究显示外显子21和其他pik3ca突变体没有差异。尽管非常普遍，但针对这种特殊突变的靶向治疗仍处于早期临床试验阶段。
PIK3CA Exon 21 Mutations (e.g., H1047R; often referred to as Exon 20 mutations if counting only coding exons) are among the most recurrent mutations in cancer, especially breast cancer. Of PIK3CA mutant breast cancers, over half harbor this mutation. Meta-analyses have shown that patients harboring this mutation may have worse overall survival, but other studies have shown no difference between Exon 21 and other PIK3CA mutants from a prognostic standpoint. While very prevalent, targeted therapies for this particular mutation are still in early clinical trial phases.