4.2 Article

Germline whole genome sequencing in adults with multiple primary tumors

期刊

FAMILIAL CANCER
卷 -, 期 -, 页码 -

出版社

SPRINGER
DOI: 10.1007/s10689-023-00343-2

关键词

Multiple primary tumors; Cancer predisposition genes; Multigene panel; Whole genome sequencing

向作者/读者索取更多资源

Multiple primary tumors (MPTs) are often associated with hereditary cancer syndromes and genetic testing is commonly conducted using multigene panel testing. In this study, we evaluated the use of whole genome sequencing (WGS) as a second-tier test for patients with non-informative multigene panel testing. However, our results showed that WGS did not identify any additional pathogenic variants in cancer predisposition genes in this cohort of patients with MPTs. Further studies with larger sample sizes are needed to determine the additional utility of WGS in these cases.
Multiple primary tumors (MPTs) are a harbinger of hereditary cancer syndromes. Affected individuals often fit genetic testing criteria for a number of hereditary cancer genes and undergo multigene panel testing. Other genomic testing options, such as whole exome (WES) and whole genome sequencing (WGS) are available, but the utility of these genomic approaches as a second-tier test for those with uninformative multigene panel testing has not been explored. Here, we report our germline sequencing results from WGS in 9 patients with MPTs who had non-informative multigene panel testing. Following germline WGS, sequence (agnostic or 735 selected genes) and copy number variant (CNV) analysis was performed according to the American College of Medical Genetics (ACMG) standards and guidelines for interpreting sequence variants and reporting CNVs. In this cohort, WGS, as a second-tier test, did not identify additional pathogenic or likely pathogenic variants in cancer predisposition genes. Although we identified a CHEK2 likely pathogenic variant and a MUTYH pathogenic variant, both were previously identified in the multigene panels and were not explanatory for the presented type of tumors. CNV analysis also failed to identify any pathogenic or likely pathogenic variants in cancer predisposition genes. In summary, after multigene panel testing, WGS did not reveal any additional pathogenic variants in patients with MPTs. Our study, based on a small cohort of patients with MPT, suggests that germline gene panel testing may be sufficient to investigate these cases. Future studies with larger sample sizes may further elucidate the additional utility of WGS in MPTs.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.2
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据