Genetics and Epigenetics Program at The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA.
Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Br J Cancer. 2022 Nov;127(10):1744-1754. doi: 10.1038/s41416-022-01885-5. Epub 2022 Jun 28.
Ductal carcinoma in situ (DCIS) is a non-obligate precursor of invasive carcinoma. Multiple studies have shown that DCIS lesions typically possess a driver mutation associated with cancer development. Mutation in the TP53 tumour suppressor gene is present in 15-30% of pure DCIS lesions and in ~30% of invasive breast cancers. Mutations in TP53 are significantly associated with high-grade DCIS, the most likely form of DCIS to progress to invasive carcinoma. In this review, we summarise published evidence on the prevalence of mutant TP53 in DCIS (including all DCIS subtypes), discuss the availability of mouse models for the study of DCIS and highlight the need for functional studies of the role of TP53 in the development of DCIS and progression from DCIS to invasive disease.
导管原位癌 (DCIS) 是非浸润性癌的强制性前体。多项研究表明，DCIS 病变通常具有与癌症发展相关的驱动突变。TP53 肿瘤抑制基因的突变存在于 15-30%的纯 DCIS 病变和约 30%的浸润性乳腺癌中。TP53 突变与高级别 DCIS 显著相关，这是最有可能进展为浸润性癌的 DCIS 形式。在这篇综述中，我们总结了已发表的关于 DCIS 中突变型 TP53 的流行率的证据（包括所有 DCIS 亚型），讨论了用于研究 DCIS 的小鼠模型的可用性，并强调了研究 TP53 在 DCIS 发展和从 DCIS 进展为浸润性疾病中的作用的功能研究的必要性。
