Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data

Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data

PMS2 is one of the DNA-mismatch repair genes included in routine genetic testing for Lynch syndrome and colorectal, ovarian, and endometrial cancers. PMS2 is also included in the American College of Medical Genetics and Genomics' List of Secondary Findings Genes in the context of clinical exome...

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Bibliographic Details
Published in:The Journal of molecular diagnostics : JMD Vol. 26; no. 9; pp. 843 - 850
Main Authors: Mistry, Nipun A., Roellinger, Samantha E., Manninen, Matthew C., Gandham, Mallika, Koganti, Tejaswi, Balan, Jagadheshwar, Basu, Shubham, Blake, Emily J., Tandale, Pratyush P., Holdren, Megan A., Hoenig, Megan F., Urban, Rhianna M., Veith, Rebecca L., Kendzior, Matthew C., Wang, Chen, Gupta, Sounak, Shen, Wei
Format: Journal Article
Language:English
Published: United States Elsevier Inc 01-09-2024
Online Access:Get full text
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Summary:PMS2 is one of the DNA-mismatch repair genes included in routine genetic testing for Lynch syndrome and colorectal, ovarian, and endometrial cancers. PMS2 is also included in the American College of Medical Genetics and Genomics' List of Secondary Findings Genes in the context of clinical exome and genome sequencing. However, sequencing of PMS2 by short-read–based next-generation sequencing technologies is complicated by the presence of the pseudogene PMS2CL, and is often supplemented by long-range–based approaches, such as long-range PCR or long-read–based next-generation sequencing, which increases the complexity and cost. This article describes a bioinformatics homology triage workflow that can eliminate the need for long-read–based testing for PMS2 in the vast majority of patients undergoing exome sequencing, thus simplifying PMS2 testing and reducing the associated cost.
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ISSN:1525-1578
1943-7811
1943-7811
DOI:10.1016/j.jmoldx.2024.06.001