乳腺癌基因组学研究进展

Genomics of breast cancer

乳腺癌的发生是由体细胞突变引起。研究乳腺癌的体细胞突变谱有助于明确乳腺癌发生发展的生物学过程。应用二代测序技术对乳腺癌基因组学的研究有了一系列新的认识。二代测序技术检测到新的乳腺癌相关基因,这些基因的突变频率较低,不同患者的突变基因却涉及某些通路的失调。某些乳腺癌基因组中可识别特异性突变签名,但一般不反映环境暴露。尽管所有肿瘤中瘤内异质性均存在亚克隆突变,均有一个优势克隆占全部乳腺癌细胞的50%以上。乳腺癌基因组学旨在促进向个体化医学转化,基于基因组信息的乳腺癌分子分型和个体化治疗将在不远的将来成为现实。

Breast cancer is caused by somatic mutation. As such, somatic mutation in breast cancer should be described to eluci- date the underlying mechanism. Next-generation sequencing has provided new insights into the genomics of breast cancer. New genes were identified and exhibited a relationship with breast cancer. Although these genes mutated at a low frequency, such genes in different cases could be categorized into specific pathways. Mutational signatures could be found in some cases, but such signatures were gener- ally not related to environmental exposure. Studies on intra-tumoral heterogeneity have revealed the ubiquitous presence of sub-clones in breast cancer; however, a major clone is also observed, accounting for 〉50% of tumor cells. Current advancements show that breast cancer genomies has been integrated into personalized medicine. Furthermore, a genome-informed and personalized molecular sub-typ- ing and treatment of breast cancer can be developed in the future.