P144: Biomarker testing patterns among patients newly diagnosed with non-small cell lung, prostate, and bladder cancer

with breast cancer.Tumor-only CGP identified a missense variant in TP53 with a high variant allele frequency (67.7%).Given the patient's son's history of acute myeloid leukemia, Li-Fraumeni syndrome (LFS) was suspected, and confirmatory testing was recommended.The test result was negative, which helped exclude the diagnosis of LFS.Conclusion: Our protocol represents a comprehensive approach to management of PGPVs that uniquely addresses both cancer predisposition syndromes and other genetic diseases.The protocol's structured framework, particularly its emphasis on initial phenotype assessment and confirmatory testing criteria, helps to ensure appropriate variant evaluation and disclosure.While this strategy may identify more variants with lower levels of evidence, it allows for the detection of rare genetic diseases that may be missed in cancer-focused protocol.Though developed at a single institution, this systematic approach could be applicable to other institutions implementing CGP.Regular updates will be necessary as testing technologies evolve and new evidence emerges regarding the clinical significance of germline variants.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102988
Primary Topic
Radiomics and Machine Learning in Medical Imaging
Type
article
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article

P144: Biomarker testing patterns among patients newly diagnosed with non-small cell lung, prostate, and bladder cancer

Ayda Mirsalehi, Laura Ensley, Siraje Mahmud, Lorraine Brisbin et al.
1 links
Genetics in Medicine Open
Radiomics and Machine Learning in Medical Imaging
article

P144: Biomarker testing patterns among patients newly diagnosed with non-small cell lung, prostate, and bladder cancer

Ayda Mirsalehi, Laura Ensley, Siraje Mahmud, Lorraine Brisbin, Lisa Orr, Monica Lisi, S. Paulson, M J Cline
article en

Abstract

with breast cancer.Tumor-only CGP identified a missense variant in TP53 with a high variant allele frequency (67.7%).Given the patient's son's history of acute myeloid leukemia, Li-Fraumeni syndrome (LFS) was suspected, and confirmatory testing was recommended.The test result was negative, which helped exclude the diagnosis of LFS.Conclusion: Our protocol represents a comprehensive approach to management of PGPVs that uniquely addresses both cancer predisposition syndromes and other genetic diseases.The protocol's structured framework, particularly its emphasis on initial phenotype assessment and confirmatory testing criteria, helps to ensure appropriate variant evaluation and disclosure.While this strategy may identify more variants with lower levels of evidence, it allows for the detection of rare genetic diseases that may be missed in cancer-focused protocol.Though developed at a single institution, this systematic approach could be applicable to other institutions implementing CGP.Regular updates will be necessary as testing technologies evolve and new evidence emerges regarding the clinical significance of germline variants.

Genetics in Medicine OpenVol. 3
Johnson & Johnson (United States) (US), Texas Oncology (US), Precision Research (United States) (US), Johnson & Johnson (India) (IN)
Good health and well-being
Openalex Percentile: Top 93%
Radiomics and Machine Learning in Medical Imaging
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P144: Biomarker testing patterns among patients newly diagnosed with non-small cell lung, prostate, and bladder cancer — Ayda Mirsalehi, Laura Ensley, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS