Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Cancer Research Centre, Wilmslow Road, Manchester M20 4GJ, UK.
Genetics Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Dis Model Mech. 2021 Nov 1;14(11). doi: 10.1242/dmm.049001. Epub 2021 Nov 30.
High-grade serous ovarian cancer (HGSOC) originates in the fallopian tube epithelium and is characterized by ubiquitous TP53 mutation and extensive chromosomal instability (CIN). However, direct causes of CIN, such as mutations in DNA replication and mitosis genes, are rare in HGSOC. We therefore asked whether oncogenic mutations that are common in HGSOC can indirectly drive CIN in non-transformed human fallopian tube epithelial cells. To model homologous recombination deficient HGSOC, we sequentially mutated TP53 and BRCA1 then overexpressed MYC. Loss of p53 function alone was sufficient to drive the emergence of subclonal karyotype alterations. TP53 mutation also led to global gene expression changes, influencing modules involved in cell cycle commitment, DNA replication, G2/M checkpoint control and mitotic spindle function. Both transcriptional deregulation and karyotype diversity were exacerbated by loss of BRCA1 function, with whole-genome doubling events observed in independent p53/BRCA1-deficient lineages. Thus, our observations indicate that loss of the key tumour suppressor TP53 is sufficient to deregulate multiple cell cycle control networks and thereby initiate CIN in pre-malignant fallopian tube epithelial cells. This article has an associated First Person interview with the first author of the paper.
高级别浆液性卵巢癌(HGSOC)起源于输卵管上皮,其特征为广泛存在 TP53 突变和广泛的染色体不稳定性(CIN)。然而,CIN 的直接原因,如 DNA 复制和有丝分裂基因的突变,在 HGSOC 中很少见。因此,我们想知道在非转化的人输卵管上皮细胞中,HGSOC 中常见的致癌突变是否可以间接驱动 CIN。为了模拟同源重组缺陷的 HGSOC,我们依次突变 TP53 和 BRCA1,然后过表达 MYC。单独丧失 p53 功能足以驱动亚克隆核型改变的出现。TP53 突变还导致了全局基因表达变化,影响了涉及细胞周期启动、DNA 复制、G2/M 检查点控制和有丝分裂纺锤体功能的模块。BRCA1 功能丧失加剧了转录失调和核型多样性,在独立的 p53/BRCA1 缺陷谱系中观察到全基因组倍增事件。因此,我们的观察表明,关键肿瘤抑制因子 TP53 的丧失足以使多个细胞周期控制网络失调,并由此在癌前输卵管上皮细胞中引发 CIN。本文有一篇与该论文第一作者的相关第一人称采访。