Nicholas William Fischer

Abstract 2886: Microbiota-driven modulation of tumor growth in Li-Fraumeni Syndrome: Evidence for bile acids as a key mediator

Noel Ong, Camilla Giovino, Nicholas William Fischer, Paula Rosanna Quaglietta et autres

Abstract Li-Fraumeni Syndrome (LFS) is caused by a germline mutation in TP53, which greatly increases the risk of earlier onset malignancies. Microbial communities can regulate the host inflammation and metabolism, linking them to p53 biology. However, we do not fully understand how …

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Abstract 3282: Metabolic reprogramming in Li-Fraumeni Syndrome underlies the pre-cancer niche and cancer predisposition

Paula Rosanna Quaglietta, Ashby Kissoondoyal, Noel Wei Yang Ong, Nicholas William Fischer et autres

Abstract Li-Fraumeni Syndrome (LFS) is a hereditary cancer predisposition syndrome associated with germline mutations in TP53 (mutp53). Mutp53 abrogates normal tumor-suppressive functions, including DNA repair, metabolism, and apoptosis. The accumulation of these effects, along with clonal expansion of metabolically reprogrammed cells, can …

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TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup

Nicholas William Fischer, Noel Ong, Brianne Laverty, Pamela Psarianos et autres

Li-Fraumeni syndrome (LFS) has recently been redefined as a ‘spectrum’ cancer predisposition disorder to reflect its broad phenotypic heterogeneity. This variability is thought to stem in part from the diverse functional impacts of TP53 variants, although the underlying mechanisms remain poorly understood …

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Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome

Emilie Montellier, Nicolas Lemonnier, Judith Penkert, Claire Freyçon et autres

Li-Fraumeni syndrome (LFS) is a heterogeneous predisposition to an individually variable spectrum of cancers caused by pathogenic TP53 germline variants. We used a clustering method to assign TP53 missense variants to classes based on their functional activities in experimental assays assessing biological …

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Clinical impact of TP53 functional mutations in patients with metastatic colorectal cancer treated with bevacizumab and chemotherapy

Annamaria Ruzzo, Francesco Graziano, Silvia Palladino, Nicholas William Fischer et autres

BACKGROUND: Clinical and experimental studies indicate that the tumor protein p53 (TP53) gene loss of function due to missense mutations (MMs) may confer sensitivity to anti-angiogenics. This effect seems to be linked to cross-talk mechanisms among TP53, vascular endothelial growth factor (VEGF), …

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Abstract A013 Exploring the role of microbiota in cancer development in Li-Fraumeni Syndrome

Noel WY Ong, Camilla Giovino, Nicholas William Fischer, Pamela Psarianos et autres

Abstract Li-Fraumeni Syndrome (LFS) is an inherited cancer predisposition syndrome caused by pathogenic TP53 germline variants and associated with an elevated risk to develop a wide spectrum of malignancies. LFS patients are prone to develop multiple cancers throughout their lifetime, with significantly …

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Abstract A005 TP53 variant clusters stratify the Li-Fraumeni spectrum and reveal an osteosarcoma-prone subgroup

Nicholas William Fischer, Brianne Laverty, Noa Alon, Emilie Montellier et autres

Abstract Li-Fraumeni syndrome (LFS) has recently been redefined as a ‘spectrum’ cancer predisposition disorder to reflect its broad phenotypic heterogeneity. The wide functional gradient associated with different TP53 variants is thought to contribute to LFS heterogeneity, although it is still poorly understood …

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101 Characterization of the Radiation Response and Prevention of Radiation-Induced Malignancies in Li-Fraumeni Syndrome

Pamela Psarianos, David M. Malkin, Nicholas William Fischer, Kate Sauberli-Stewart

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. …

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Abstract 6198: TP53 mutational clusters stratify the Li-Fraumeni syndrome spectrum

Nicholas William Fischer, Brianne Laverty, Ran Kafri, Kara N. Maxwell et autres

Abstract Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition disorder caused by germline variants in the TP53 tumor suppressor gene. LFS has recently been redefined as a ‘spectrum’ disorder to reflect the highly variable cancer types with largely unpredictable ages-of-onset and …

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Abstract 1124: Prevention of radiation-induced malignancies in Li-Fraumeni syndrome

Pamela Psarianos, Nicholas William Fischer, David M. Malkin

Abstract PURPOSE: Li-Fraumeni Syndrome (LFS) is a genetic disorder associated with a significant risk of early-onset cancer. This condition is driven by germline mutations in the TP53 gene which plays a primary role in the regulation of the radiation response. Aberrant TP53 …

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Abstract 1533: Characterizing tumor-immune surveillance in Li-Fraumeni syndrome

Camilla Giovino, Nicholas William Fischer, Noel Ong, Ashby Kissoondoyal et autres

Abstract Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome associated with germline TP53 mutations and increased lifetime risk of developing multiple cancers. p53, the protein encoded by TP53, plays a role in regulating various aspects of immune cell biology. Accordingly, inactivation of …

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