Scott Davidson

Abstract 1421: Pediatric pan-cancer characterization of transposable elements and their modulation by germline TP53 variants.

Brianne Laverty, Shilpa Yadahalli, Safa Majeed, Ashby Kissoondoyal et autres

Abstract Transposable elements (TEs) are dynamic repetitive genomic regions that are silenced through epigenetic repression. Although TE activation is a well-recognized feature of embryonic development and adult cancers, their role in pediatric malignancies is poorly understood. Approximately 15-18% of pediatric cancers arise …

ca, us (code pays fourni par la source)

Abstract A039: Pediatric pan-cancer characterization of transposable elements and their modulation by germline TP53 variants

Brianne Laverty, Shilpa Yadahalli, Safa Majeed, Ashby Kissoondoyal et autres

Abstract Transposable elements (TEs) are dynamic repetitive regions constituting 50% of the genome. In adult cancers, TEs contribute to carcinogenesis through structural rearrangements that disrupt tumor suppressors and by onco-exaptation, which drives aberrant oncogene expression. TEs are characterized in adult malignancies, with …

ca, us (code pays fourni par la source)

Abstract B001: Timing the development of chemoresistance in relapsed pediatric cancer with mutational signatures

Sasha Blay, Mehdi Layeghifard, Scott Davidson, David Chen et autres

Abstract Survivors of pediatric cancer face lifelong battles with severe morbidities, including a significant risk of recurrence. Pre-existing genetic variation within primary tumors give certain cell populations an evolutionary advantage, increasing the likelihood of treatment resistance and relapse. The rarity of pediatric …

ca, us, au (code pays fourni par la source)

Abstract B034: A transcriptional atlas provides a universal diagnostic platform for mesenchymal tumors and validation of preclinical models

Joshua O. Nash, Pedro L. Ballestar, Scott Davidson, Astra Schwertschkow et autres

Abstract Objectives: Mesenchymal neoplasms, or sarcomas, are a diverse and diagnostically challenging group including >150 histotypes, and are biased to pediatric patients, comprising 20% of pediatric solid tumor diagnoses compared to 1% in adults. A universal molecular taxonomy and classification system for …

ca, us (code pays fourni par la source)

Abstract B026: Infant ALL without KMT2A rearrangements harbor clinically relevant alterations and share common origins with childhood ALL

Matthew Zatzman, Jennifer Seelisch, Federico Comitani, Fabio Fuligni et autres

Abstract Infant acute lymphoblastic leukemia (ALL) is characterized by high frequency of rearrangements in KMT2A (KMT2Ar), associated with poor outcomes. Infants lacking KMT2Ar typically have superior outcomes, but remain understudied. Here, we use whole genome and transcriptome sequencing to define driver mutations …

us, ca, gb (code pays fourni par la source)

Abstract B070: Chemotherapy is a major mutagen in relapsed childhood cancer

Mehdi Layeghifard, Nicholas Light, Erik N. Bergstrom, Marcos Diaz Gay et autres

Abstract Treatment at a young age places survivors of childhood cancers at a significantly elevated risk of developing life-threatening conditions such as cardiac dysfunction and secondary neoplasms. To better define the genomic impact of cancer therapy in children, we studied a diverse …

ca, us, au (code pays fourni par la source)

Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns

Derek Wong, Maha M. Tageldein, Ping Luo, Erik Ensminger et autres

Germline pathogenic TP53 variants predispose individuals to a high lifetime risk of developing multiple cancers and are the hallmark feature of Li-Fraumeni syndrome (LFS). Our group has previously shown that LFS patients harbor shorter plasma cell-free DNA fragmentation; independent of cancer status. …

ca (code pays fourni par la source)

Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib

Katrina M. Ingley, Matthew Zatzman, Adam M. Fontebasso, Winnie Lo et autres

Familial gastrointestinal stromal tumors (GIST) are rare. We present a kindred with multiple family members affected with multifocal GIST who underwent whole genome sequencing of the germline and tumor. Affected individuals with GIST harbored a germline variant found within exon 13 of …

au, ca (code pays fourni par la source)

Abstract 3951: Timing the development of chemoresistance in relapsed pediatric cancer

Sasha Blay, Mehdi Layeghifard, Scott Davidson, David Chen et autres

Abstract Survivors of pediatric cancer face lifelong battles with severe morbidities, which includes a significant risk of recurrence. Pre-existing genetic variation within primary tumors may offer certain cell populations an evolutionary advantage, increasing the likelihood that some will be resistant to treatment. …

us, au (code pays fourni par la source)

Supplementary Table S3 from The BRD4–NUT Fusion Alone Drives Malignant Transformation of NUT Carcinoma

R. Taylor Durall, Julianna Huang, Luke Wojenski, Yeying Huang et autres

Supplementary Table S3. Primary antibodies used for immunofluorescence staining.

Supplementary Fig. S3 from The BRD4–NUT Fusion Alone Drives Malignant Transformation of NUT Carcinoma

R. Taylor Durall, Julianna Huang, Luke Wojenski, Yeying Huang et autres

Supplementary Fig. S3. mNC-derived cell lines share transcriptional profiles with tumor tissues that are characterized by MYC pathway upregulation.

Supplementary Table S12 from The BRD4–NUT Fusion Alone Drives Malignant Transformation of NUT Carcinoma

R. Taylor Durall, Julianna Huang, Luke Wojenski, Yeying Huang et autres

Supplementary Table S12. OTTER scores for mNC tumor tissue, including all cluster with score >0.25.