2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Discerning the Meaning of Cancer Predisposition Variants in a Pediatric Cancer Cohort

Discerning the Meaning of Cancer Predisposition Variants in a Pediatric Cancer Cohort

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This document discusses the use of paired somatic disease-germline comparator (SDGC) testing in identifying germline disease predisposition in pediatric cancer patients. The study found that 19.5% of individuals in the cohort had germline cancer predisposition variants, with some of these variants considered likely contributory to the current cancer under study. The most common cancer types in the cohort were central nervous system (CNS) tumors, followed by solid tumors such as Wilms' tumor and osteosarcoma. <br /><br />The study showed that SDGC testing can inform patient management and follow-up, as it allows for the identification of germline variations and subsequent familial testing and genetic counseling. However, in approximately half of the cases, the relationship between the diagnosed cancer and the observed germline variant was not clear. It is possible that these cases are associated with secondary findings or represent an under-ascertained correlation with other cancers. <br /><br />The document also mentions the importance of genomic profiling in the setting of cancer, as it informs diagnosis, prognosis, eligibility for therapeutics, and germline disease predisposition. The SDGC enhanced exome sequencing approach used in this study allows for comprehensive analysis of both germline and somatic genomic landscapes, providing insight into the etiology, prognosis, and potential therapies for disease. <br /><br />In conclusion, this study demonstrates the utility of SDGC testing in identifying germline disease predisposition variants in pediatric cancer patients. The findings highlight the importance of incorporating germline testing in conjunction with tumor profiling to further inform patient management and surveillance needs. The data from this study contribute to the understanding of disease-gene relationships and may have implications for personalized medicine in pediatric oncology.

Asset Subtitle

Presenting Author - Erica L. Macke, PhD; Co-Author - Kathleen M. Schieffer, PhD; Co-Author - Mariam T. Mathew, PhD, FACMG; Co-Author - Marco L. Leung, PhD, FACMG; Co-Author - Yassmine Akkari, PhD, FACMG; Co-Author - Melanie Babcock, PhD; Co-Author - Ying-Chen Claire Hou, PhD; Co-Author - Liana G. Hernandez, MS; Co-Author - Jordan R. Olberding, MS; Co-Author - Prasad Kopparapu, PhD; Co-Author - Vijayakumar Jayaraman, MS; Co-Author - Don Corsmeier, MSc; Co-Author - Jessica L. Howard, MB(ASCP); Co-Author - Douglas Depoorter, MS; Co-Author - Kristin N. Zajo, CGC; Co-Author - Peter White, PhD; Co-Author - Benjamin J. Kelly, MS; Co-Author - Richard K. Wilson, PhD; Co-Author - Elaine R. Mardis, PhD; Co-Author - Catherine E. Cottrell, PhD;

Meta Tag

Cancer Syndromes

Exome sequencing

Genetic Testing

Sequencing

Variant Detection

Co-Author Kathleen M. Schieffer, PhD

Co-Author Mariam T. Mathew, PhD, FACMG

Co-Author Marco L. Leung, PhD, FACMG

Co-Author Yassmine Akkari, PhD, FACMG

Co-Author Melanie Babcock, PhD

Co-Author Ying-Chen Claire Hou, PhD

Co-Author Liana G. Hernandez, MS

Co-Author Jordan R. Olberding, MS

Co-Author Prasad Kopparapu, PhD

Co-Author Vijayakumar Jayaraman, MS

Co-Author Don Corsmeier, MSc

Co-Author Jessica L. Howard, MB(ASCP)

Co-Author Douglas Depoorter, MS

Co-Author Kristin N. Zajo, CGC

Co-Author Peter White, PhD

Co-Author Benjamin J. Kelly, MS

Co-Author Richard K. Wilson, PhD

Co-Author Elaine R. Mardis, PhD

Co-Author Catherine E. Cottrell, PhD

Presenting Author Erica L. Macke, PhD

Keywords

paired somatic disease-germline comparator testing

germline disease predisposition

pediatric cancer patients

germline cancer predisposition variants

central nervous system tumors

Wilms' tumor

osteosarcoma

patient management

genetic counseling

genomic profiling