Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.
Curr Hematol Malig Rep. 2022 Aug;17(4):82-93. doi: 10.1007/s11899-022-00665-5. Epub 2022 Jun 2.
Somatic mutations in DNA methyltransferases and other DNA methylation associated genes have been found in a wide variety of cancers. Germline mutations in these genes have been associated with several rare hereditary disorders. Among the described germline/congenital disorders, neurological dysfunction and/or growth abnormalities appear to be a common phenotype. Here, we outline known germline abnormalities and examine the cancer risks associated with these mutations.
The increased use and availability of sequencing techniques in the clinical setting has expanded the identification of germline abnormalities involving DNA methylation machinery. This has provided additional cases to study these rare hereditary disorders and their predisposition to cancer. Studying these syndromes may offer an opportunity to better understand the contribution of these genes in cancer development.
在多种癌症中发现了 DNA 甲基转移酶和其他与 DNA 甲基化相关基因的体细胞突变。这些基因的种系突变与几种罕见的遗传性疾病有关。在所描述的种系/先天性疾病中，神经功能障碍和/或生长异常似乎是一种常见的表型。在这里，我们概述了已知的种系异常，并检查了这些突变相关的癌症风险。
测序技术在临床环境中的广泛应用和可用性扩大了涉及 DNA 甲基化机制的种系异常的鉴定。这为研究这些罕见的遗传性疾病及其对癌症的易感性提供了更多的病例。研究这些综合征可能为更好地了解这些基因在癌症发展中的作用提供机会。
