Marshall Catherine H, Imada Eddie L, Tang Zhuojun, Marchionni Luigi, Antonarakis Emmanuel S
Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Departamento de Bioquimica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
Oncoscience. 2019 May 10;6(5-6):312-316. doi: 10.18632/oncoscience.481. eCollection 2019 May.
Inactivating alterations have been reported in ovarian and prostate cancers and may have therapeutic implications; however, the prevalence of these mutations across other cancer types is unknown. We searched the cBioPortal and GENIE Project (public release v4.1) databases for cancer types with > 200 sequenced cases, that included patients with metastatic disease, and in which the occurrence of at least monoallelic alterations was > 1%. The prevalence of at least monoallelic mutations was highest in bladder cancer (3.7%); followed by prostate (3.4%), esophago-gastric (2.1%) and uterine cancers (2.1%). Biallelic inactivation was highest in prostate cancer (1.8%), followed by ovarian (1.0%) and bladder cancers (0.5%). These results are the first (to our knowledge) to estimate the prevalence of monoallelic and biallelic mutations across multiple cancer types encompassing over 15,000 cases.
卵巢癌和前列腺癌中已报道存在失活改变，这可能具有治疗意义；然而，这些突变在其他癌症类型中的发生率尚不清楚。我们在cBioPortal和GENIE项目（公开版本v4.1）数据库中搜索了病例数超过200例的癌症类型，这些病例包括转移性疾病患者，且至少单等位基因改变的发生率>1%。至少单等位基因突变的发生率在膀胱癌中最高（3.7%）；其次是前列腺癌（3.4%）、食管胃癌（2.1%）和子宫癌（2.1%）。双等位基因失活在前列腺癌中最高（1.8%），其次是卵巢癌（1.0%）和膀胱癌（0.5%）。据我们所知，这些结果首次估计了涵盖超过15000例病例的多种癌症类型中单等位基因和双等位基因突变的发生率。
