The molecular origin and taxonomy of mucinous ovarian carcinoma Variant analysis. a Summary of variants across the cohort for genes mutated in > 5% of MOC; also includes copy number alterations for CDKN2A and ERBB2. BEN, benign mucinous; MBT, borderline mucinous; MOC, mucinous ovarian carcinoma; EOM, extra-ovarian metastases. b Comparison of copy number alterations and mutations with other tumor types, summarised by frequency for each. Number of cases shown below. *Higher number is for selected genes tested by Sanger sequencing/SNP arrays (see Methods); lower number from exome analysis. c Number of variants per Mb by group (ANOVA, two-sided, F = 1.55, df = 5, p = 0.18), combining exome and targeted sequencing cohorts. d Top: number of single nucleotide variants (SNV) input to signature detection from whole exome and whole genome sequencing, with each column an MOC case. Note whole genome samples truncated at 300 (asterisk). Bottom: COSMIC mutation signatures18">
图1:粘液性卵巢癌的分子起源和分类变异分析。一个总结整个群体的变异基因突变在商务部> 5%;还包括拷贝数变化CDKN2A和ERBB2。本,良性的粘液;MBT,边缘型粘液;商务部、粘液性卵巢癌;加工,extra-ovarian转移。b拷贝数变化的比较以及与其他肿瘤突变类型,频率为每一个总结。病例数如下所示。*更多选择基因测试Sanger测序/ SNP数组(见方法);较低的数量从外显子组分析。c每个Mb的变种数量由集团(方差分析,两面,F = 1.55, df = 5,p= 0.18),结合外显子组测序和有针对性的人群。d上图:单核苷酸变异的数量(SNV)输入签名从全外显子组和全基因组测序检测,每列一个商务部的例子。注意全基因组样本截断在300(星号)。底部:宇宙突变签名18
