Stephen Cristiano

Abstract 1135: Lung cancer subtyping using cell-free DNA fragmentomes and protein biomarkers

Stephen Cristiano, Paul van der Leest, Jamie E. Medina, Zachary Skidmore et autres

Abstract Introduction: Lung cancer is the leading cause of cancer-related mortality worldwide. Accurate histological subtyping to differentiate between lung adenocarcinoma (LUAD), lung squamous cell carcinoma (LUSC), and small cell lung cancer (SCLC) is critical for guiding optimal therapeutic strategies. However, up to …

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Abstract 1134: Cell-free DNA fragmentomes capture response to immuno-radiotherapy in metastatic non-small cell lung cancer

Noushin Niknafs, Lavanya Sivapalan, Bahar Alipanahi, Gavin Pereira et autres

Abstract Background: Timely assessment of response to immune checkpoint inhibition (ICI) is critical but often limited by the heterogeneity of radiographic responses. Mutation-based analyses of cell-free DNA (cfDNA) circumvent these challenges, but are, in turn, prone to artifacts arising from clonal hematopoiesis. …

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Lexicon for Clonal Hematopoiesis in Liquid Biopsy

Robert Tell, Ahmet Zehir, Andrew Anfora, Gargi D. Basu et autres

Historically, clonal hematopoiesis (CH) has been recognized as a confounder of cell-free DNA (cfDNA) testing. Recent evidence now demonstrates the role of CH as a risk factor in health, generating distinct sources of cfDNA that can be leveraged for liquid biopsy diagnostics. …

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Supplementary Figures S1-S14 from Detecting Liver Cancer Using Cell-Free DNA Fragmentomes

Zachariah H. Foda, Akshaya V. Annapragada, Kavya Boyapati, Daniel C. Bruhm et autres

Supplementary Figure S1 shows contributions of individual genomic regions to the final trained DELFI surveillance model. Supplementary Figure S2 shows DELFI scores in individuals without cancer by age and sex. Supplementary Figure S3 shows DELFI scores in high-risk individuals without cancer across …

Supplementary Tables from Detecting Liver Cancer Using Cell-Free DNA Fragmentomes

Zachariah H. Foda, Akshaya V. Annapragada, Kavya Boyapati, Daniel C. Bruhm et autres

Supplementary Table S1 shows Clinical information of US/EU patients analyzed. Supplementary Table S2 is a summary of whole genome cfDNA analyses. Supplementary Table S3 shows clinical information of Hong Kong patients analyzed. Supplementary Table S4 shows the lowest scoring transcription factors in …

Data from Genomic Landscapes of Endometrioid and Mucinous Ovarian Cancers and Morphologically Similar Tumor Types

Dorothy Hallberg, Alice C. Eastman, Shashikant Koul, Daniel C. Bruhm et autres

Abstract Endometrioid and mucinous ovarian carcinomas represent nearly a fifth of ovarian cancers, but their molecular characteristics and pathologic origins are poorly understood. To identify the genomic and epigenomic alterations characteristic of these ovarian cancer subtypes and evaluate links to morphologically similar …

Supplementary Figure S11 from Genomic Landscapes of Endometrioid and Mucinous Ovarian Cancers and Morphologically Similar Tumor Types

Dorothy Hallberg, Alice C. Eastman, Shashikant Koul, Daniel C. Bruhm et autres

Kaplan-Meier survival curves for ovarian cancer patients with and without mutations in the PI3K and WNT pathways. (a, b) Alterations in the PI3K pathway trended towards increased survival among patients with ovarian endometrioid carcinomas and decreased survival among patients with ovarian mucinous …

Figure 5 from Genomic Landscapes of Endometrioid and Mucinous Ovarian Cancers and Morphologically Similar Tumor Types

Dorothy Hallberg, Alice C. Eastman, Shashikant Koul, Daniel C. Bruhm et autres

Comparison of mutation frequencies across histologic subtypes in commonly altered genes. A, For known cancer driver genes with an alteration frequency of at least 10% in patients with ovarian or uterine endometrioid cancer, we compared the proportion of samples with alterations between …

Figure 2 from Genomic Landscapes of Endometrioid and Mucinous Ovarian Cancers and Morphologically Similar Tumor Types

Dorothy Hallberg, Alice C. Eastman, Shashikant Koul, Daniel C. Bruhm et autres

Integrated genomic analyses of ovarian and uterine endometrioid adenocarcinomas. Integrated analyses of somatic point mutations, structural variants, including linked amplicons, deletions, and rearrangements, organized by pathways. The top of the figure shows the number of each type of alteration, the middle portion …

Figure 3 from Genomic Landscapes of Endometrioid and Mucinous Ovarian Cancers and Morphologically Similar Tumor Types

Dorothy Hallberg, Alice C. Eastman, Shashikant Koul, Daniel C. Bruhm et autres

WGS analyses of linked amplicons and rearrangements. A, Circos plots for linked amplicons for individual tumor samples with >100 structural variants. Circos plots depict copy number alterations as well as intra- and inter-chromosomal rearrangements. Segmented normalized estimates of read depth were used …

Supplementary Figure S2 from Genomic Landscapes of Endometrioid and Mucinous Ovarian Cancers and Morphologically Similar Tumor Types

Dorothy Hallberg, Alice C. Eastman, Shashikant Koul, Daniel C. Bruhm et autres

Mutations in ESR1 at Tyr537 and Leu536. ESR1 mutations identified in two patients with uterine endometrioid carcinomas occurred at Tyr537, a hotspot most commonly associated with aromatase inhibitor resistance in patients with breast cancer patients, and Leu536. This hotspot is in close …

Supplementary Figure S5 from Genomic Landscapes of Endometrioid and Mucinous Ovarian Cancers and Morphologically Similar Tumor Types

Dorothy Hallberg, Alice C. Eastman, Shashikant Koul, Daniel C. Bruhm et autres

Circos plots of uterine endometrioid carcinoma samples.