肿瘤基因组测序遗漏了具有临床意义的种系致病变异。
Clinically significant germline pathogenic variants are missed by tumor genomic sequencing.
作者信息
Stout Leigh Anne, Hunter Cynthia, Schroeder Courtney, Kassem Nawal, Schneider Bryan P
机构信息
Indiana University School of Medicine, Indianapolis, IN, USA.
Indiana University Health Precision Genomics, Indianapolis, IN, USA.
出版信息
NPJ Genom Med. 2023 Oct 13;8(1):30. doi: 10.1038/s41525-023-00374-9.
Abstract
A germline pathogenic variant may be present even if the results of tumor genomic sequencing do not suggest one. There are key differences in the assay design and reporting of variants between germline and somatic laboratories. When appropriate, both tests should be completed to aid in therapy decisions and determining optimal screening and risk-reduction interventions.
摘要
即使肿瘤基因组测序结果未提示存在种系致病变异，其仍可能存在。种系实验室和体细胞实验室在变异检测设计和报告方面存在关键差异。在适当情况下，应同时完成这两项检测，以辅助治疗决策并确定最佳筛查和降低风险干预措施。
相似文献
1
Clinically significant germline pathogenic variants are missed by tumor genomic sequencing.
NPJ Genom Med. 2023 Oct 13;8(1):30. doi: 10.1038/s41525-023-00374-9.
2
Comparison of Somatic and Germline Variant Interpretation in Hereditary Cancer Genes.
JCO Precis Oncol. 2019 Dec;3:1-8. doi: 10.1200/PO.19.00144.
3
Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing.
Ann Oncol. 2022 Apr;33(4):426-433. doi: 10.1016/j.annonc.2022.01.006. Epub 2022 Jan 21.
4
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
JAMA Netw Open. 2020 Oct 1;3(10):e2019452. doi: 10.1001/jamanetworkopen.2020.19452.
5
The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.
BJOG. 2022 Feb;129(3):433-442. doi: 10.1111/1471-0528.16975. Epub 2021 Nov 8.
6
Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor.
JCO Precis Oncol. 2021 Dec 22;5. doi: 10.1200/PO.21.00281. eCollection 2021.
7
Concordance Between Genomic Alterations Detected by Tumor and Germline Sequencing: Results from a Tertiary Care Academic Center Molecular Tumor Board.
Oncologist. 2023 Jan 18;28(1):33-39. doi: 10.1093/oncolo/oyac164.
8
Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data.
Arch Pathol Lab Med. 2022 Apr 1;146(4):451-461. doi: 10.5858/arpa.2020-0842-CP.
9
Prevalence of pathogenic germline variants in the circulating tumor DNA testing.
Int J Clin Oncol. 2022 Oct;27(10):1554-1561. doi: 10.1007/s10147-022-02220-x. Epub 2022 Jul 23.
10
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
J Ovarian Res. 2023 Jul 17;16(1):141. doi: 10.1186/s13048-023-01234-x.
引用本文的文献
1
Co-occurrence of , , or variants in uveal melanomas: A case series and review.
Am J Ophthalmol Case Rep. 2025 Apr 9;38:102327. doi: 10.1016/j.ajoc.2025.102327. eCollection 2025 Jun.
2
Establishment of a comprehensive set of fact sheets for cancer predisposition genes for medical oncologists practicing cancer genome profiling.
Int J Clin Oncol. 2025 May;30(5):827-836. doi: 10.1007/s10147-025-02746-w. Epub 2025 Apr 4.
3
A Review of Genomic Testing and SDH- Deficiency in Gastrointestinal Stromal Tumors: Getting to the GIST.
Cancer Med. 2025 Feb;14(3):e70669. doi: 10.1002/cam4.70669.
4
Clinical integration of germline findings from a tumor testing precision medicine program.
BMC Cancer. 2025 Jan 30;25(1):176. doi: 10.1186/s12885-025-13487-4.
5
Inference of genetic ancestry from a multi-gene cancer panel in Colombian women with cancer.
Breast Cancer Res Treat. 2025 Apr;210(2):251-259. doi: 10.1007/s10549-024-07557-7. Epub 2024 Dec 7.
6
Clinical Utility of Molecular Tumor Board Review for Identification of Possible Germline Pathogenic Variants on Tumor Next-Generation Sequencing Reports.
JCO Precis Oncol. 2024 Sep;8:e2400301. doi: 10.1200/PO.24.00301.
7
Toward Informed Selection and Interpretation of Clinical Genomic Tests in Prostate Cancer.
JCO Precis Oncol. 2024 Mar;8:e2300654. doi: 10.1200/PO.23.00654.
本文引用的文献
1
Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.
Ann Oncol. 2023 Mar;34(3):215-227. doi: 10.1016/j.annonc.2022.12.003. Epub 2022 Dec 16.
2
Discrepancies between tumor genomic profiling and germline genetic testing.
ESMO Open. 2022 Aug;7(4):100526. doi: 10.1016/j.esmoop.2022.100526. Epub 2022 Jul 1.
3
Somatic Genomic Testing in Patients With Metastatic or Advanced Cancer: ASCO Provisional Clinical Opinion.
J Clin Oncol. 2022 Apr 10;40(11):1231-1258. doi: 10.1200/JCO.21.02767. Epub 2022 Feb 17.
4
Use of Next-Generation Sequencing Tests to Guide Cancer Treatment: Results From a Nationally Representative Survey of Oncologists in the United States.
JCO Precis Oncol. 2018 Nov 13;2. doi: 10.1200/PO.18.00169. eCollection 2018 Nov.
5
Implications of Incidental Germline Findings Identified In the Context of Clinical Whole Exome Sequencing for Guiding Cancer Therapy.
JCO Precis Oncol. 2020 Nov;4:1109-1121. doi: 10.1200/PO.19.00354.
6
Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease.
N Engl J Med. 2021 Nov 25;385(22):2036-2046. doi: 10.1056/NEJMoa2103425.
7
Identification of germline cancer predisposition variants during clinical ctDNA testing.
Sci Rep. 2021 Jul 1;11(1):13624. doi: 10.1038/s41598-021-93084-0.
8
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
JAMA Oncol. 2021 Apr 1;7(4):525-533. doi: 10.1001/jamaoncol.2020.7987.
9
TBCRC 048: Phase II Study of Olaparib for Metastatic Breast Cancer and Mutations in Homologous Recombination-Related Genes.
J Clin Oncol. 2020 Dec 20;38(36):4274-4282. doi: 10.1200/JCO.20.02151. Epub 2020 Oct 29.
10
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
JAMA Netw Open. 2020 Oct 1;3(10):e2019452. doi: 10.1001/jamanetworkopen.2020.19452.
Zotero 插件