Hotspots, recurrently mutated DNA positions in cancer, are thought to be oncogenic drivers because random chance is unlikely and the knowledge of clear examples of oncogenic hotspots in genes like BRAF, IDH1, KRAS and NRAS among many other genes. Hotspots are attractive because provide opportunities for biomedical research and novel treatments. Nevertheless, recent evidence, such as DNA hairpins for APOBEC3A, suggests that a considerable fraction of hotspots seem to be passengers rather than drivers. To document hotspots, the database HotSpotsAnnotations is proposed. For this, a statistical model was implemented to detect putative hotspots, which was applied to TCGA cancer datasets covering 33 cancer types, 10 182 patients and 3 175 929 mutations. Then, genes and hotspots were annotated by two published methods (APOBEC3A hairpins and dN/dS ratio) that may inform and warn researchers about possible false functional hotspots. Moreover, manual annotation from users can be added and shared. From the 23 198 detected as possible hotspots, 4435 were selected after false discovery rate correction and minimum mutation count. From these, 305 were annotated as likely for APOBEC3A whereas 442 were annotated as unlikely. To date, this is the first database dedicated to annotating hotspots for possible false functional hotspots.

中文翻译：

---

HotSpotAnnotations - 癌症热点突变和注释数据库。

热点，在癌症中反复发生突变的 DNA 位置，被认为是致癌驱动因素，因为随机机会是不可能的，而且在许多其他基因中，BRAF、IDH1、KRAS 和 NRAS 等基因中致癌热点的明确例子的知识。热点很有吸引力，因为它为生物医学研究和新疗法提供了机会。尽管如此，最近的证据，例如 APOBEC3A 的 DNA 发夹，表明相当一部分热点似乎是乘客而不是司机。为了记录热点，建议使用数据库 HotSpotsAnnotations。为此，实施了一个统计模型来检测假定的热点，并将其应用于涵盖 33 种癌症类型、10 182 名患者和 3 175 929 个突变的 TCGA 癌症数据集。然后，基因和热点由两种已发表的方法（APOBEC3A 发夹和 dN/dS 比率）注释，这些方法可能会告知和警告研究人员可能存在的假功能热点。此外，可以添加和共享用户的手动注释。从检测到的 23 198 个可能的热点中，经过错误发现率校正和最小突变计数后，选择了 4435 个。其中，305 个被注释为可能是 APOBEC3A，而 442 个被注释为不太可能。迄今为止，这是第一个专门为可能的错误功能热点注释热点的数据库。305 个被注释为可能是 APOBEC3A，而 442 个被注释为不太可能。迄今为止，这是第一个专门为可能的错误功能热点注释热点的数据库。305 个被注释为可能是 APOBEC3A，而 442 个被注释为不太可能。迄今为止，这是第一个专门为可能的错误功能热点注释热点的数据库。