View Only- RNA Genetic Testing in Hereditary Cancer Improves Variant Classification and Patient Management-Reference Material

Reference Material

Pdf Summary

A study presented by the University of Kansas Cancer Center, Dana-Farber Cancer Institute, Rutgers Cancer Institute, Cedars-Sinai Samuel Oschin Comprehensive Cancer Institute, and the University of Iowa, reveals that RNA genetic testing in hereditary cancer improves variant classification and patient management. The study highlights the use of RNA analysis to identify pathogenic duplications in MSH2 in patients with Lynch syndrome, a hereditary form of colorectal cancer. This approach enables more accurate classification of variants and helps guide appropriate management strategies for patients. <br /><br />Another study mentioned in the presentation discusses the quantitative analysis of BRCA1 and BRCA2 germline splicing variants using a novel RNA-massively parallel sequencing assay. This assay allows for more comprehensive evaluation of splicing variants associated with hereditary breast and ovarian cancer. By accurately identifying these variants, healthcare professionals can provide more personalized management recommendations to patients with these genetic predispositions. <br /><br />The presentation references GeneReviews®, an online resource developed by the University of Washington, which provides in-depth information about genetic disorders and their associated genes. Additionally, the National Comprehensive Cancer Network (NCCN) Guidelines and Clinical Resources are mentioned as valuable references for healthcare professionals in the management of hereditary cancer. <br /><br />The study also highlights the importance of informatics for RNA sequencing, as it provides a web resource for analyzing RNA sequencing data on the cloud. This resource can aid researchers and clinicians in the analysis and interpretation of RNA sequencing data, expanding our understanding of alternative splicing variation in human populations. <br /><br />Overall, this presentation underscores the significant impact of RNA genetic testing in improving variant classification and patient management in hereditary cancer. By utilizing this approach, healthcare professionals can provide more accurate genetic counseling, personalized treatment plans, and surveillance recommendations for patients with inherited cancer predispositions.

Keywords

RNA genetic testing

hereditary cancer

variant classification

patient management

Lynch syndrome

germline splicing variants

hereditary breast and ovarian cancer

GeneReviews®

NCCN Guidelines

informatics for RNA sequencing