RARE DISEASE
Li-Fraumeni syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome
Drug discovery
2
drugs
With orphan designations
Overview
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition disorder caused by germline TP53 mutations, leading to a broad spectrum of early-onset cancers. Core malignancies include sarcomas, breast cancer, brain tumors, adrenocortical carcinoma, and leukemia. Lifelong cancer risks exceed 90% by age 60, with 50% developing cancer by age 40 [1][2][6]. Diagnosis relies on genetic testing (TP53 variants) or clinical criteria (e.g., Chompret). Management emphasizes radiation-sparing therapies and intensive surveillance (e.g., whole-body MRI) [3][16].
Burden
Lifetime risk: ~90% for females (>95% breast cancer risk), ~73% for males [12][16]
Morbidity: 22% develop cancer by age 15; 57% of females with LFS have breast cancer as first malignancy [4][12]
Challenges: Multigenerational psychosocial impact, early mortality, and treatment-related complications (e.g., radiation-induced cancers) [3][12]
Categories: rare endocrine diseases, rare genetic diseases, rare neoplastic diseases, rare neurological diseases
Research Papers
359 drug discovery papers about Li-Fraumeni syndrome, with 1 first-in-class and 1 next-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
359 drug discovery papers about Li-Fraumeni syndrome, with 1 first-in-class and 1 next-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-08-01 | Future Trends in Cancer Prevention and Interception in Cancer Predisposition Syndromes: Leveraging Insights From High-Risk Populations.
Cancer predisposition syndromes (CPS), arising from germline pathogenic variants in cancer predisposition genes (CPGs), are increasingly recognized as major contributors to pediatric and adult malignancies. Recent genomic advances have significantly enhanced the diagnosis, surveillance, and management of CPS, providing a unique framework for cancer prevention and interception of pre-malignant lesions. Increased utilization of comprehensive germline and tumor-normal sequencing has improved diagnostic precision, allowing early identification of at-risk individuals, including those with and without a family history of cancer. Integration of genome and long-read sequencing technologies further increases diagnostic yield by detecting structural and noncoding variants. Early diagnosis strategies, such as newborn screening, have demonstrated clinical utility and cost-effectiveness in population studies, such as the TP53 R337H variant newborn screening in Brazil. Evidence-based surveillance protocols, supported by outcome data, have led to earlier tumor detection and improved survival. Novel 'liquid biopsy' approaches offer minimally invasive tools for surveillance, with the potential to detect malignancies prior to radiologic findings. Beyond early detection, emerging strategies aim to intercept tumor development. Medical prevention strategies such as metformin in Li-Fraumeni syndrome and aspirin in Lynch syndrome show promise in modifying cancer risk. Immunoprevention, particularly neoantigen-targeted vaccines in mismatch repair-deficient tumors, is an evolving frontier with preliminary evidence of immunogenicity and safety. Together, these advances represent a paradigm shift in CPS management, offering a model for precision cancer prevention. Continued international collaboration, longitudinal studies, and health economic evaluations will be critical to translating these innovations into clinical and public health practice.
2026-04-21 | Multi-omics analysis reveals the key role of STIL in Li-Fraumeni syndrome and osteosarcoma.
Li-Fraumeni syndrome (LFS), driven by germline TP53 mutations, confers a markedly elevated risk of osteosarcoma (OS), yet the mechanisms beyond TP53 remain insufficiently defined. By integrating multi-omics analyses and in vitro validation, we identify SCL-interrupting locus (STIL) as a pivotal hub linking LFS to OS progression. We reveal that STIL negatively regulates p53 protein stability in a manner independent of TP53 mutation status, indicating that STIL can promote tumorigenesis by dampening p53 pathway activity and stability. Importantly, STIL displays genetic-context-dependent oncogenicity: it supports stemness across OS models, but more strongly drives invasion and metastatic potential in TP53-mutant backgrounds. Specifically, STIL is highly expressed in a population of high-stemness malignant cells (Pro-OSCs), where it maintains stemness and promotes bone destruction by activating PTN-NCL and FN1-CD44 pathways, while simultaneously remodeling the immune microenvironment via MIF and APP signaling to evade immune surveillance. Additionally, WEE1 inhibitors may represent a targeted vulnerability in STIL-high OS. In summary, the relationship between TP53 and STIL is not a simple linear upstream-downstream cascade, but reflects a highly context-dependent regulatory dynamic. STIL exerts oncogenic effects by regulating p53 stability and driving a "stemness-invasive" phenotype in the context of TP53 mutations. This also provides novel biomarkers and intervention targets for precision therapy.
2026-04-03 | Abstract 2886: Microbiota-driven modulation of tumor growth in Li-Fraumeni Syndrome: Evidence for bile acids as a key mediator
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 gut microbiome contributes to this risk. In this study, we looked at how depleting microbiota impacts tumor development in a mouse model of LFS. Trp53R172H/WT (LFS) mice and their wildtype (WT) littermates received a broad-spectrum antibiotic cocktail to deplete the gut microbiota. After four days of treatment, mice were injected subcutaneously with MC38 colon adenocarcinoma cells and continued the antibiotic treatment until study endpoint. LFS mice that received antibiotics developed significantly smaller tumors compared to untreated LFS controls, while the tumor growth in WT mice did not change. This suggests that microbial activity promotes tumor growth in mutant p53 mice. To interrogate if microbial metabolites, rather than live organisms, caused this effect, we transferred filtered fecal matter from LFS mice to WT recipients. These filtrates increased tumor size, showing that soluble microbial products can mimic the tumor-promoting effect. Faecal filtrate was analyzed with LC-MS and untreated LFS mice showed higher levels of fecal bile acids compared to WT animals. The presence of these bile acids also positively correlated with subcutaneous tumor mass, and antibiotic treatment reduced bile acid presence. We observed increased NF-κB levels in the intestines of untreated LFS mice. ELISAs further confirmed elevated intestinal pro-inflammatory cytokines expression, including IL-6, TNF-α, IFN-γ, and IL-17A, which decreased after microbiota depletion. In addition to these intestinal changes, untreated LFS mice had higher total levels of circulating plasma pro-inflammatory cytokines, which slightly decreased after antibiotic treatment. FITC-dextran assays demonstrated increased gut permeability in untreated LFS mice, returning to normal after treatment with antibiotics. Mutant p53 has been reported to enhance the mevalonate pathway, leading to increased cholesterol synthesis and an expanded pool of primary bile acids. These bile acids can then be converted by gut microbiota into secondary bile acids that have known inflammatory and NF-κB-activating effects. This combined metabolic and microbial pathway may explain the elevated bile acids and inflammatory signaling seen in LFS mice. Taken together, these data broaden the current understanding of LFS biology by revealing that tumor susceptibility is shaped not only by cell-intrinsic mutant p53 functions but also by microbiota-driven metabolic and inflammatory cues. This integrated view opens new avenues for therapeutic intervention beyond traditional surveillance-based care. Citation Format: Noel W. Ong, Camilla Giovino, Nicholas Fischer, Paula Rosanna Quaglietta, Ashby Kissoondoyal, David Malkin. Microbiota-driven modulation of tumor growth in Li-Fraumeni Syndrome: Evidence for bile acids as a key mediator [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2026; Part 1 (Regular Abstracts); 2026 Apr 17-22; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2026;86(7 Suppl):Abstract nr 2886.
2026-04-03 | Abstract 3282: Metabolic reprogramming in Li-Fraumeni Syndrome underlies the pre-cancer niche and cancer predisposition
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 enhance cell survival and adaptation to stress conditions, priming a pre-cancerous niche. We hypothesize that germline TP53 mutations alter metabolism to promote a pre-cancerous primed state. Moreover, metabolic interventions can reverse this state to reduce cancer onset in LFS. LFS (Trp53+/R172H) mice and wild-type (WT) littermates were followed across four age cohorts (60, 120, 210, 300 days) and treated with metformin-supplemented drinking water (1mg/mL) or left untreated. At endpoint, plasma, muscle, liver, kidney, spleen, thymus, and brain tissues were collected. Flow cytometry immune profiling was performed on spleen and thymus. All tissues were analyzed by LC-MS/MS untargeted proteomics and Seahorse metabolic assays. All statistics were performed in R. Splenic lymphocyte proportions did not differ between LFS and WT mice across development, however we did observe significantly different metabolic states (p<0.05). LFS mice expressed significantly higher metabolism-associated functional exhaustion markers KLRG1 and PD1 on NK cells and CD4+ T cells, respectively. Metformin treatment rescued this phenotype by significantly reduced PD1 expression on exhausted T cells (CD4+, CD8+, and CD4+CD8+ double-positive; p<0.05) in LFS mice. Tissue proteomics revealed key metabolic and developmental pathway differences in LFS mice, and the effect of longitudinal metformin on the pre-cancer niche. These pathways are being further validated through in vitro assays with patient-derived cells to help delineate the role of various cell types in LFS pre-cancer priming. We demonstrated that metabolic reprogramming occurs systemically in LFS to promote a cancer-primed state. Moreover, treatment with a metabolic modulator can aid in rescuing these changes, suggesting potential a potential cancer interception or treatment for LFS patients to revert the cancer priming phenotype. Citation Format: Paula Rosanna Quaglietta, Ashby Kissoondoyal, Noel Wei Yang Ong, Nicholas Fischer, David Malkin, . Metabolic reprogramming in Li-Fraumeni Syndrome underlies the pre-cancer niche and cancer predisposition [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2026; Part 1 (Regular Abstracts); 2026 Apr 17-22; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2026;86(7 Suppl):Abstract nr 3282.
2026-04-03 | Abstract 3329: Wnt signalling variants as modifiers of cancer susceptibility in Li-Fraumeni syndrome
Abstract Li-Fraumeni Syndrome (LFS) is a hereditary cancer predisposition syndrome associated with germline TP53 mutations, leading to a significantly increased lifetime cancer risk. Individuals with LFS display striking clinical heterogeneity, including variation in tumour onset, aggressiveness, and metastasis, highlighting the need to better understand genetic modifiers and their influence on cancer susceptibility. Recent work from our lab suggests that variation in Wnt signalling may be contributing to this clinical diversity. The Wnt pathway regulates many cellular processes, including proliferation, differentiation, and stemness. When hyperactivated, it can promote oncogenesis by stabilizing β-catenin levels, activating transcriptional programs that support tumour initiation and progression. Whole-genome sequencing on a large, multi-institutional cohort of LFS patients has identified Wnt-pathway variants that appear to decrease cancer risk and are associated with improved survival. These variants are predicted to dampen β-catenin signalling, pointing toward a novel mechanism that may act to counterbalance TP53-driven oncogenesis. To further investigate the differences contributing to heterogeneity in LFS, we are developing a proteomic atlas of patient-derived dermal fibroblasts, representing a range of clinical presentations: wild-type (n=5), clinically unaffected LFS carriers (n=7), and LFS individuals with known malignancies (n=6). Baseline protein expression was quantified using mass spectrometry, and Wnt-related proteins were identified for further testing. To explore the functional mechanisms of these variants, siRNA-mediated knockdowns will be used to examine how short-term reductions in Wnt expression affect cancer-associated cell phenotypes. Preliminary analyses have identified that LFS fibroblasts demonstrate increased expression of Wnt receptors compared to wild-type, suggesting a baseline priming towards Wnt activation. Gene set enrichment analysis demonstrated an enrichment of β-catenin, Lef1, and Myc transcriptional programs in LFS cells, consistent with a strongly activated Wnt signalling state. Together, these findings support hyperactive Wnt signalling as a defining feature of the LFS cellular environment and a contributing factor to TP53-driven oncogenesis. By integrating proteomic profiling with functional variant validation, this work examines how Wnt-modifying variants contribute to the tumorigenic environment in LFS. The results of this study will help us to better understand the biological heterogeneity seen among LFS patients and lay the groundwork for future research into Wnt modifiers as therapeutic interventions. Beyond the scope of this project, the LFS fibroblast proteomic atlas may act as a novel resource for the LFS and TP53 research communities, providing unbiased quantification of proteins across different clinical outcomes. Citation Format: Madeleine Driscoll, Paula R. Quaglietta, David Malkin, . Wnt signalling variants as modifiers of cancer susceptibility in Li-Fraumeni syndrome [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2026; Part 1 (Regular Abstracts); 2026 Apr 17-22; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2026;86(7 Suppl):Abstract nr 3329.
2026-08-01 | Future Trends in Cancer Prevention and Interception in Cancer Predisposition Syndromes: Leveraging Insights From High-Risk Populations.
Cancer predisposition syndromes (CPS), arising from germline pathogenic variants in cancer predisposition genes (CPGs), are increasingly recognized as major contributors to pediatric and adult malignancies. Recent genomic advances have significantly enhanced the diagnosis, surveillance, and management of CPS, providing a unique framework for cancer prevention and interception of pre-malignant lesions. Increased utilization of comprehensive germline and tumor-normal sequencing has improved diagnostic precision, allowing early identification of at-risk individuals, including those with and without a family history of cancer. Integration of genome and long-read sequencing technologies further increases diagnostic yield by detecting structural and noncoding variants. Early diagnosis strategies, such as newborn screening, have demonstrated clinical utility and cost-effectiveness in population studies, such as the TP53 R337H variant newborn screening in Brazil. Evidence-based surveillance protocols, supported by outcome data, have led to earlier tumor detection and improved survival. Novel 'liquid biopsy' approaches offer minimally invasive tools for surveillance, with the potential to detect malignancies prior to radiologic findings. Beyond early detection, emerging strategies aim to intercept tumor development. Medical prevention strategies such as metformin in Li-Fraumeni syndrome and aspirin in Lynch syndrome show promise in modifying cancer risk. Immunoprevention, particularly neoantigen-targeted vaccines in mismatch repair-deficient tumors, is an evolving frontier with preliminary evidence of immunogenicity and safety. Together, these advances represent a paradigm shift in CPS management, offering a model for precision cancer prevention. Continued international collaboration, longitudinal studies, and health economic evaluations will be critical to translating these innovations into clinical and public health practice.
2026-04-21 | Multi-omics analysis reveals the key role of STIL in Li-Fraumeni syndrome and osteosarcoma.
Li-Fraumeni syndrome (LFS), driven by germline TP53 mutations, confers a markedly elevated risk of osteosarcoma (OS), yet the mechanisms beyond TP53 remain insufficiently defined. By integrating multi-omics analyses and in vitro validation, we identify SCL-interrupting locus (STIL) as a pivotal hub linking LFS to OS progression. We reveal that STIL negatively regulates p53 protein stability in a manner independent of TP53 mutation status, indicating that STIL can promote tumorigenesis by dampening p53 pathway activity and stability. Importantly, STIL displays genetic-context-dependent oncogenicity: it supports stemness across OS models, but more strongly drives invasion and metastatic potential in TP53-mutant backgrounds. Specifically, STIL is highly expressed in a population of high-stemness malignant cells (Pro-OSCs), where it maintains stemness and promotes bone destruction by activating PTN-NCL and FN1-CD44 pathways, while simultaneously remodeling the immune microenvironment via MIF and APP signaling to evade immune surveillance. Additionally, WEE1 inhibitors may represent a targeted vulnerability in STIL-high OS. In summary, the relationship between TP53 and STIL is not a simple linear upstream-downstream cascade, but reflects a highly context-dependent regulatory dynamic. STIL exerts oncogenic effects by regulating p53 stability and driving a "stemness-invasive" phenotype in the context of TP53 mutations. This also provides novel biomarkers and intervention targets for precision therapy.
2026-04-03 | Abstract 2886: Microbiota-driven modulation of tumor growth in Li-Fraumeni Syndrome: Evidence for bile acids as a key mediator
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 gut microbiome contributes to this risk. In this study, we looked at how depleting microbiota impacts tumor development in a mouse model of LFS. Trp53R172H/WT (LFS) mice and their wildtype (WT) littermates received a broad-spectrum antibiotic cocktail to deplete the gut microbiota. After four days of treatment, mice were injected subcutaneously with MC38 colon adenocarcinoma cells and continued the antibiotic treatment until study endpoint. LFS mice that received antibiotics developed significantly smaller tumors compared to untreated LFS controls, while the tumor growth in WT mice did not change. This suggests that microbial activity promotes tumor growth in mutant p53 mice. To interrogate if microbial metabolites, rather than live organisms, caused this effect, we transferred filtered fecal matter from LFS mice to WT recipients. These filtrates increased tumor size, showing that soluble microbial products can mimic the tumor-promoting effect. Faecal filtrate was analyzed with LC-MS and untreated LFS mice showed higher levels of fecal bile acids compared to WT animals. The presence of these bile acids also positively correlated with subcutaneous tumor mass, and antibiotic treatment reduced bile acid presence. We observed increased NF-κB levels in the intestines of untreated LFS mice. ELISAs further confirmed elevated intestinal pro-inflammatory cytokines expression, including IL-6, TNF-α, IFN-γ, and IL-17A, which decreased after microbiota depletion. In addition to these intestinal changes, untreated LFS mice had higher total levels of circulating plasma pro-inflammatory cytokines, which slightly decreased after antibiotic treatment. FITC-dextran assays demonstrated increased gut permeability in untreated LFS mice, returning to normal after treatment with antibiotics. Mutant p53 has been reported to enhance the mevalonate pathway, leading to increased cholesterol synthesis and an expanded pool of primary bile acids. These bile acids can then be converted by gut microbiota into secondary bile acids that have known inflammatory and NF-κB-activating effects. This combined metabolic and microbial pathway may explain the elevated bile acids and inflammatory signaling seen in LFS mice. Taken together, these data broaden the current understanding of LFS biology by revealing that tumor susceptibility is shaped not only by cell-intrinsic mutant p53 functions but also by microbiota-driven metabolic and inflammatory cues. This integrated view opens new avenues for therapeutic intervention beyond traditional surveillance-based care. Citation Format: Noel W. Ong, Camilla Giovino, Nicholas Fischer, Paula Rosanna Quaglietta, Ashby Kissoondoyal, David Malkin. Microbiota-driven modulation of tumor growth in Li-Fraumeni Syndrome: Evidence for bile acids as a key mediator [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2026; Part 1 (Regular Abstracts); 2026 Apr 17-22; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2026;86(7 Suppl):Abstract nr 2886.
2026-04-03 | Abstract 3282: Metabolic reprogramming in Li-Fraumeni Syndrome underlies the pre-cancer niche and cancer predisposition
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 enhance cell survival and adaptation to stress conditions, priming a pre-cancerous niche. We hypothesize that germline TP53 mutations alter metabolism to promote a pre-cancerous primed state. Moreover, metabolic interventions can reverse this state to reduce cancer onset in LFS. LFS (Trp53+/R172H) mice and wild-type (WT) littermates were followed across four age cohorts (60, 120, 210, 300 days) and treated with metformin-supplemented drinking water (1mg/mL) or left untreated. At endpoint, plasma, muscle, liver, kidney, spleen, thymus, and brain tissues were collected. Flow cytometry immune profiling was performed on spleen and thymus. All tissues were analyzed by LC-MS/MS untargeted proteomics and Seahorse metabolic assays. All statistics were performed in R. Splenic lymphocyte proportions did not differ between LFS and WT mice across development, however we did observe significantly different metabolic states (p<0.05). LFS mice expressed significantly higher metabolism-associated functional exhaustion markers KLRG1 and PD1 on NK cells and CD4+ T cells, respectively. Metformin treatment rescued this phenotype by significantly reduced PD1 expression on exhausted T cells (CD4+, CD8+, and CD4+CD8+ double-positive; p<0.05) in LFS mice. Tissue proteomics revealed key metabolic and developmental pathway differences in LFS mice, and the effect of longitudinal metformin on the pre-cancer niche. These pathways are being further validated through in vitro assays with patient-derived cells to help delineate the role of various cell types in LFS pre-cancer priming. We demonstrated that metabolic reprogramming occurs systemically in LFS to promote a cancer-primed state. Moreover, treatment with a metabolic modulator can aid in rescuing these changes, suggesting potential a potential cancer interception or treatment for LFS patients to revert the cancer priming phenotype. Citation Format: Paula Rosanna Quaglietta, Ashby Kissoondoyal, Noel Wei Yang Ong, Nicholas Fischer, David Malkin, . Metabolic reprogramming in Li-Fraumeni Syndrome underlies the pre-cancer niche and cancer predisposition [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2026; Part 1 (Regular Abstracts); 2026 Apr 17-22; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2026;86(7 Suppl):Abstract nr 3282.
2026-04-03 | Abstract 3329: Wnt signalling variants as modifiers of cancer susceptibility in Li-Fraumeni syndrome
Abstract Li-Fraumeni Syndrome (LFS) is a hereditary cancer predisposition syndrome associated with germline TP53 mutations, leading to a significantly increased lifetime cancer risk. Individuals with LFS display striking clinical heterogeneity, including variation in tumour onset, aggressiveness, and metastasis, highlighting the need to better understand genetic modifiers and their influence on cancer susceptibility. Recent work from our lab suggests that variation in Wnt signalling may be contributing to this clinical diversity. The Wnt pathway regulates many cellular processes, including proliferation, differentiation, and stemness. When hyperactivated, it can promote oncogenesis by stabilizing β-catenin levels, activating transcriptional programs that support tumour initiation and progression. Whole-genome sequencing on a large, multi-institutional cohort of LFS patients has identified Wnt-pathway variants that appear to decrease cancer risk and are associated with improved survival. These variants are predicted to dampen β-catenin signalling, pointing toward a novel mechanism that may act to counterbalance TP53-driven oncogenesis. To further investigate the differences contributing to heterogeneity in LFS, we are developing a proteomic atlas of patient-derived dermal fibroblasts, representing a range of clinical presentations: wild-type (n=5), clinically unaffected LFS carriers (n=7), and LFS individuals with known malignancies (n=6). Baseline protein expression was quantified using mass spectrometry, and Wnt-related proteins were identified for further testing. To explore the functional mechanisms of these variants, siRNA-mediated knockdowns will be used to examine how short-term reductions in Wnt expression affect cancer-associated cell phenotypes. Preliminary analyses have identified that LFS fibroblasts demonstrate increased expression of Wnt receptors compared to wild-type, suggesting a baseline priming towards Wnt activation. Gene set enrichment analysis demonstrated an enrichment of β-catenin, Lef1, and Myc transcriptional programs in LFS cells, consistent with a strongly activated Wnt signalling state. Together, these findings support hyperactive Wnt signalling as a defining feature of the LFS cellular environment and a contributing factor to TP53-driven oncogenesis. By integrating proteomic profiling with functional variant validation, this work examines how Wnt-modifying variants contribute to the tumorigenic environment in LFS. The results of this study will help us to better understand the biological heterogeneity seen among LFS patients and lay the groundwork for future research into Wnt modifiers as therapeutic interventions. Beyond the scope of this project, the LFS fibroblast proteomic atlas may act as a novel resource for the LFS and TP53 research communities, providing unbiased quantification of proteins across different clinical outcomes. Citation Format: Madeleine Driscoll, Paula R. Quaglietta, David Malkin, . Wnt signalling variants as modifiers of cancer susceptibility in Li-Fraumeni syndrome [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2026; Part 1 (Regular Abstracts); 2026 Apr 17-22; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2026;86(7 Suppl):Abstract nr 3329.
Access all drug discovery papers and probability of success in trials forecasts:
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Drug Discovery Landscape
2 orphan drug designations for Li-Fraumeni syndrome.
2 orphan drug designations for Li-Fraumeni syndrome.
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
utidelone | — | FDA | 2024-03-21 | — | Biostar Pharma, Inc. |
Adenoviral vector containing human p53 gene | gene therapies | EMA | 2006-10-23 | — | Gendux Molecular Limited |
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