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首页 » 分子生物学 » EBioMedicine:全基因组测序高效识别癌症相关基因突变

EBioMedicine:全基因组测序高效识别癌症相关基因突变

来源:生物谷 2014-12-26 10:47

2014年12月26日讯 /生物谷BIOON/ --UT西南医学中心癌症研究人员已经证明,全基因组测序可用于识别癌症的遗传性风险,其可以潜在地改善癌症的预防,诊断和治疗。

这是首次研究使用了全基因组测序以评估一系列258癌症患者的基因组,诊断其癌症倾向性突变情况。这项研究发表在杂志EBioMedicine上。全基因组测序是新的基因工具,能够确定比以往更多的DNA序列。

我们的研究结果显示,近90%的临床鉴定突变可被明确地检测到,同时还有额外的癌症基因突变被发现。研究者帮助患者评估许多类型癌症,包括肾,皮肤,肺,乳腺,卵巢,结肠,内分泌和前列腺癌的风险。一旦癌症已知的遗传倾向被发现,Ross博士和她的团队就可实施早期癌症的最佳治疗方法或者更好的策略预防癌症不形成。

所有约5%到10%的癌症是由已知的遗传基因突变引起的。这些突变一代一代传下来。BRCA1和BRCA2基因突变是遗传性乳腺癌最常见的原因。 BRCA基因突变是最出名的,是因为他们增加患乳腺癌的风险,同时也造成卵巢癌,前列腺癌,胰腺癌和其它癌症的风险增加。

在这项研究中,研究人员开发了新的方法来分析大量通过全基因组测序所产生的数据。具体来说,Ross博士的团队设计了一种方法将BRCA1或BRCA2基因突变组患者与一组无BRCA基因突变的患者比较。

在BRCA组中检测到所有预期的BRCA1和BRCA2基因突变,突变至少88.6%被明确地检测。与此相反,不同癌基因突变被发现在没有BRCA突变队列。结果表明,全基因组测序可以发现非BRCA患者的新的癌症基因突变,表现出全基因组测序带来的未来癌症诊断的价值。(生物谷Bioon.com)

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Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

Samantha B. Foleya, et al.

Despite the potential of whole-genome sequencing (WGS) to improve patient diagnosis and care, the empirical value of WGS in the cancer genetics clinic is unknown. We performed WGS on members of two cohorts of cancer genetics patients: those with BRCA1/2 mutations (n = 176) and those without (n = 82). Initial analysis of potentially pathogenic variants (PPVs, defined as nonsynonymous variants with allele frequency < 1% in ESP6500) in 163 clinically-relevant genes suggested that WGS will provide useful clinical results. This is despite the fact that a majority of PPVs were novel missense variants likely to be classified as variants of unknown significance (VUS). Furthermore, previously reported pathogenic missense variants did not always associate with their predicted diseases in our patients. This suggests that the clinical use of WGS will require large-scale efforts to consolidate WGS and patient data to improve accuracy of interpretation of rare variants. While loss-of-function (LoF) variants represented only a small fraction of PPVs, WGS identified additional cancer risk LoF PPVs in patients with known BRCA1/2 mutations and led to cancer risk diagnoses in 21% of non-BRCA cancer genetics patients after expanding our analysis to 3209 ClinVar genes. These data illustrate how WGS can be used to improve our ability to discover patients' cancer genetic risks.

 

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