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乳腺癌和结直肠癌的全基因组突变分析。

Genome-wide mutational analyses of breast and colorectal cancers.

作者信息

Lin Jimmy, Sjöblom Tobias

机构信息

The Ludwig Center and Howard Hughes Medical Institute, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD 21231, USA.

出版信息

Discov Med. 2007 Feb;7(37):13-9.

Abstract

With the human genome sequence at hand, it is now possible to sequence coding regions of cancer cell genomes to identify the mutated genes that drive tumor formation. The clinical importance of breast and colorectal cancer, together causing 14% of yearly cancer deaths, make these two tumor types suitable initial candidates for cancer genome sequencing. We recently surveyed more than half of the known human genes for somatic mutations in eleven breast and eleven colorectal cancers, and defined 122 and 69 genes, respectively, as candidate cancer genes in these two diseases. The study design provides a blueprint for future cancer genome sequencing efforts, validated by its ability to detect known and novel cancer genes. The findings shed light on heterogeneity between and within tumor types and provide novel research avenues for cancer biology.

摘要

有了人类基因组序列,现在就有可能对癌细胞基因组的编码区域进行测序,以识别驱动肿瘤形成的突变基因。乳腺癌和结直肠癌在每年癌症死亡病例中占14%,其临床重要性使这两种肿瘤类型成为癌症基因组测序合适的初始候选对象。我们最近对11例乳腺癌和11例结直肠癌中的体细胞突变进行了超过一半已知人类基因的检测,分别确定了122个和69个基因作为这两种疾病的候选癌症基因。该研究设计为未来的癌症基因组测序工作提供了蓝图,并通过其检测已知和新发现癌症基因的能力得到了验证。这些发现揭示了肿瘤类型之间和内部的异质性,并为癌症生物学提供了新的研究途径。

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