P101: Very low penetrance of loss-of-function variants in PMS2 for all Lynch syndrome relevant cancers in large US biobanks*

Results: The predictive accuracy of LBx relative to CGP data was generated from a large cohort of patients.Preliminary results from the paired tests revealed a high predictability.For lung cancer patients (n=41), LBx identified >80% of Tier 1 variants found in the corresponding CGP.For non-lung cancer patients (breast carcinoma (n=6), colorectal adenocarcinoma (n=5), salivary gland carcinoma (n=3), appendiceal carcinoma (n=1), cholangiocarcinoma (n=1), pancreatic adenocarcinoma (n=1)), LBx identified a high percentage (>95%) of Tier 1 variants found in the corresponding CGP.Conclusion: Liquid biopsy continues to be explored for its utilities in identifying somatic molecular abnormalities as precision oncology continues to progress.This comparative study demonstrates the predictability of LBx and CGP using the TSO500 platform, with a subset assessment for clinically relevant alterations and therapeutic targets.Somatic molecular abnormalities were also evaluated to determine their impact on identification of NGS results.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102945
Primary Topic
Genetic factors in colorectal cancer
Type
article
Field-Weighted Citation Impact
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article

P101: Very low penetrance of loss-of-function variants in PMS2 for all Lynch syndrome relevant cancers in large US biobanks*

Christopher Chapman, Douglas Stoller, Kelly M. Schiabor Barrett, Alexandre Bolze et al.
Genetics in Medicine Open
Genetic factors in colorectal cancer
article

P101: Very low penetrance of loss-of-function variants in PMS2 for all Lynch syndrome relevant cancers in large US biobanks*

Christopher Chapman, Douglas Stoller, Kelly M. Schiabor Barrett, Alexandre Bolze, Joseph J. Grzymski, Daniel Philip Judge, C. Anwar A. Chahal, Elizabeth T. Cirulli, Douglas A. Olson, Jeremy Cauwels
article en

Abstract

Results: The predictive accuracy of LBx relative to CGP data was generated from a large cohort of patients.Preliminary results from the paired tests revealed a high predictability.For lung cancer patients (n=41), LBx identified >80% of Tier 1 variants found in the corresponding CGP.For non-lung cancer patients (breast carcinoma (n=6), colorectal adenocarcinoma (n=5), salivary gland carcinoma (n=3), appendiceal carcinoma (n=1), cholangiocarcinoma (n=1), pancreatic adenocarcinoma (n=1)), LBx identified a high percentage (>95%) of Tier 1 variants found in the corresponding CGP.Conclusion: Liquid biopsy continues to be explored for its utilities in identifying somatic molecular abnormalities as precision oncology continues to progress.This comparative study demonstrates the predictability of LBx and CGP using the TSO500 platform, with a subset assessment for clinically relevant alterations and therapeutic targets.Somatic molecular abnormalities were also evaluated to determine their impact on identification of NGS results.

Genetics in Medicine OpenVol. 3
St. Luke's University Health Network (US), Sanford Health (US), University of Nevada, Reno (US), Medical University of South Carolina (US), WellSpan Health (US), WellSpan Ephrata Community Hospital (US), Helix (United States) (US), HealthPartners (US), University of Nebraska Medical Center (US)
Gender equality
Openalex Percentile: Top 93%
Genetic factors in colorectal cancer
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