Research & Literature

Genetic and functional analysis of a Li Fraumeni syndrome family in China.

Hu H, Liu J, Liao X, et al.

Scientific reports 2016; (6()):20221 doi:10.1038/srep20221.

Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.

Mai PL, Best AF, Peters JA, et al.

Cancer 2016; (122(23)):3673-3681 doi:10.1002/cncr.30248.

Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort.

Mai PL, Khincha PP, Loud JT, et al.

JAMA oncology 2017; (3(12)):1640-1645 doi:10.1001/jamaoncol.2017.1350.

Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.

de Andrade KC, Mirabello L, Stewart DR, et al.

Human mutation 2017; (38(12)):1723-1730 doi:10.1002/humu.23320.

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.

Renaux-Petel M, Charbonnier F, Théry JC, et al.

Journal of medical genetics 2018; (55(3)):173-180 doi:10.1136/jmedgenet-2017-104976.

[A rhabdomyosarcoma patient from a Li-Fraumeni syndrome family: a case report and literature review].

Xie Y, Zhao WH, Hua Y, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2017; (19(12)):1263-1266.

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.

Rana HQ, Gelman R, LaDuca H, et al.

Journal of the National Cancer Institute 2018; (110(8)):863-870 doi:10.1093/jnci/djy001.

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

de Andrade KC, Frone MN, Wegman-Ostrosky T, et al.

Human mutation 2019; (40(1)):97-105 doi:10.1002/humu.23673.

Li-Fraumeni syndrome presenting as cutaneous melanoma in a child: case report and review of literature.

Baek YS, Seo JY, Song JY, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2019; (33(4)):e174-e175 doi:10.1111/jdv.15430.

Management of orbital rhabdomyosarcoma in a child with Li-Fraumeni syndrome.

Jivraj I, Somers GR, Belliveau MJ, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2019; (23(3)):182-185 doi:10.1016/j.jaapos.2019.01.013.

Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome.

Le AN, Harton J, Desai H, et al.

Breast cancer research and treatment 2020; (181(1)):181-188 doi:10.1007/s10549-020-05612-7.

CAR T-cell therapy for a relapsed/refractory acute B-cell lymphoblastic lymphoma patient in the context of Li-Fraumeni syndrome.

Chen L, Xu B, Long X, et al.

Journal for immunotherapy of cancer 2020; (8(1)) doi:10.1136/jitc-2019-000364.

Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience.

Pondrom M, Bougeard G, Karanian M, et al.

Pediatric blood & cancer 2020; (67(9)):e28486 doi:10.1002/pbc.28486.

Reply to Kratz et al.

Frebourg T, Lagercrantz SB, Oliveira C, et al.

European journal of human genetics : EJHG 2020; (28(11)):1483-1485 doi:10.1038/s41431-020-00710-y.

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM, Zambrano AK, Guevara-Ramírez P, et al.

Journal of medical case reports 2020; (14(1)):136 doi:10.1186/s13256-020-02451-4.

Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome.

Katona BW, Powers J, McKenna DB, et al.

The American journal of gastroenterology 2020; (115(12)):2095-2097 doi:10.14309/ajg.0000000000000935.

Modeling of osteosarcoma with induced pluripotent stem cells.

Pang LK, Pena M, Zhao R, Lee DF

Stem cell research 2020; (49()):102006 doi:10.1016/j.scr.2020.102006.

Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients.

Kwong A, Shin VY, Ho CYS, et al.

BMC cancer 2020; (20(1)):1053 doi:10.1186/s12885-020-07476-y.

Pilot Study Assessing Tolerability and Metabolic Effects of Metformin in Patients With Li-Fraumeni Syndrome.

Walcott FL, Wang PY, Bryla CM, et al.

JNCI cancer spectrum 2020; (4(6)):pkaa063 doi:10.1093/jncics/pkaa063.

Recent Advances in p53.

D'Orazi G

Biomolecules 2021; (11(2)) doi:10.3390/biom11020211.

Whole-body magnetic resonance imaging: technique, guidelines and key applications.

Summers P, Saia G, Colombo A, et al.

Ecancermedicalscience 2021; (15()):1164 doi:10.3332/ecancer.2021.1164.

Melanoma and Li-Fraumeni syndrome: family history is not essential for screening recommendation.

Regan H, Marren P

Clinical and experimental dermatology 2021; (46(8)):1567-1568 doi:10.1111/ced.14748.

Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome.

Oba L, Best AF, Mai PL, et al.

Familial cancer 2022; (21(3)):333-336 doi:10.1007/s10689-021-00265-x.

Lung Cancer in Li-Fraumeni Syndrome.

Kerrigan K, Chan J, Vagher J, et al.

JCO precision oncology 2021; (5()) doi:10.1200/PO.20.00468.

Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil.

Matzenbacher Bittar C, de Araújo Rocha YM, Vieira IA, et al.

PloS one 2021; (16(9)):e0251639 doi:10.1371/journal.pone.0251639.

Breast cancer characteristics and surgery among women with Li-Fraumeni syndrome in Germany-A retrospective cohort study.

Rippinger N, Fischer C, Sinn HP, et al.

Cancer medicine 2021; (10(21)):7747-7758 doi:10.1002/cam4.4300.

Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.

Kumamoto T, Yamazaki F, Nakano Y, et al.

International journal of clinical oncology 2021; (26(12)):2161-2178 doi:10.1007/s10147-021-02011-w.

Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li-Fraumeni syndrome.

Siegel A, Bremer RC, Klein WMP, et al.

Breast cancer research and treatment 2022; (191(1)):159-167 doi:10.1007/s10549-021-06410-5.

Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.

de Andrade KC, Khincha PP, Hatton JN, et al.

The Lancet. Oncology 2021; (22(12)):1787-1798 doi:10.1016/S1470-2045(21)00580-5.

Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.

Sassi H, Meddeb R, Cherif MA, et al.

BMC medical genomics 2022; (15(1)):44 doi:10.1186/s12920-022-01189-w.

[Li-Fraumeni syndrome].

Keymling M, Schlemmer HP, Kratz C, et al.

Radiologie (Heidelberg, Germany) 2022; (62(12)):1026-1032 doi:10.1007/s00117-022-01071-x.

Anticipatory anxiety and participation in cancer screening. A systematic review.

Goodwin B, Anderson L, Collins K, et al.

Psycho-oncology 2023; (32(12)):1773-1786 doi:10.1002/pon.6238.

How Great Is the Threat of Clonal Hematopoiesis? Let This New Risk Score Be Your Guide.

Xie Z, DeZern AE

NEJM evidence 2023; (2(5)):EVIDe2300053 doi:10.1056/EVIDe2300053.

Potential role of p53 deregulation in modulating immune responses in human malignancies: A paradigm to develop immunotherapy.

Chauhan S, Jaiswal S, Jakhmola V, et al.

Cancer letters 2024; (588()):216766 doi:10.1016/j.canlet.2024.216766.

Lessons Learned in Practice with Li-Fraumeni Syndrome: LFS-Related Breast Cancer Treatment Strategy and Establishment of a Surveillance System.

Sasaki R, Horimoto Y, Saeki H, et al.

Juntendo Iji zasshi = Juntendo medical journal 2022; (68(4)):405-412 doi:10.14789/jmj.JMJ22-0012-CR.

Performance of LFSPRO TP53 germline carrier risk predictions compared to standard genetic counseling practice on prospectively collected probands.

Corredor JL, Dodd-Eaton EB, Woodman-Ross J, et al.

medRxiv : the preprint server for health sciences 2024; doi:10.1101/2024.07.09.24310095.

Baseline surveillance in Li Fraumeni syndrome using whole-body MRI: a systematic review and updated meta-analysis.

Dacoregio MI, Abrahão Reis PC, Gonçalves Celso DS, et al.

European radiology 2025; (35(2)):643-651 doi:10.1007/s00330-024-10983-2.

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

Wong D, Tageldein M, Luo P, et al.

Nature communications 2024; (15(1)):7386 doi:10.1038/s41467-024-51529-w.

Current insights and future directions of Li-Fraumeni syndrome.

Hosseini MS

Discover oncology 2024; (15(1)):561 doi:10.1007/s12672-024-01435-w.

Long-term survival in a patient with Li-Fraumeni syndrome-associated giant cell glioblastoma treated with nivolumab: illustrative case.

Mitchell M, Restrepo-Orozco A, Verhey LH, Vitaz T

Journal of neurosurgery. Case lessons 2024; (8(22)).

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.

Rofes P, Castillo-Manzano C, Menéndez M, et al.

Genome medicine 2025; (17(1)):3 doi:10.1186/s13073-025-01429-5.

Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome- paving the path towards precision medicine: a case report.

Seeling C, Dahlum S, Marienfeld R, et al.

Journal of cancer research and clinical oncology 2025; (151(1)):37 doi:10.1007/s00432-024-06077-7.

Early-onset Colorectal Cancer in a Patient with Li-Fraumeni Syndrome: A Case Series and Literature Review.

Sekiguchi K, Motoo I, Ando T, et al.

Internal medicine (Tokyo, Japan) 2025; (64(22)):3244-3251 doi:10.2169/internalmedicine.4945-24.

Li-Fraumeni Syndrome : Current Strategies and Future Perspectives.

Lee JW

Journal of Korean Neurosurgical Society 2025; (68(3)):305-310 doi:10.3340/jkns.2025.0050.

Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report.

Ridd S, Peck L, Bankar A, et al.

NPJ genomic medicine 2025; (10(1)):39 doi:10.1038/s41525-025-00476-6.

Optimizing shared decision-making for risk-reducing mastectomy in women with Li-Fraumeni syndrome using patient-reported outcome measures.

Polidorio N, Sandoval RL, Bioni P, et al.

Scientific reports 2025; (15(1)):19449 doi:10.1038/s41598-025-89068-z.

A rare pediatric case of Li-Fraumeni syndrome presenting with virilization symptoms and dual primary malignancies on magnetic resonance imaging and [18F]-fluorodeoxyglucose positron emission tomography/computed tomography.

Chen J, Ouyang W

Pediatric radiology 2025; (55(12)):2671-2675 doi:10.1007/s00247-025-06340-0.

Standardized Culture of Skin Fibroblasts From Punch Biopsies for Germline DNA Isolation in Myeloid Malignancies: A Practical Bedside-to-Laboratory Approach.

Kour P, Kumari N, Kaushal N, et al.

Bio-protocol 2025; (15(19)):e5469 doi:10.21769/BioProtoc.5469.

Psychosocial burdens and unmet supportive care needs of partners and relatives of individuals with Li-Fraumeni syndrome: A mixed-methods study.

Kiermeier S, Schott S, Nees J, et al.

Journal of genetic counseling 2025; (34(6)):e70148 doi:10.1002/jgc4.70148.

"You Always Worry": Scan-Related Anxiety Among Patients With Metastatic Lung Cancer.

Derry-Vick H, Prigerson HG, Hahne J, et al.

Journal of the American College of Radiology : JACR 2025; (22(12)):1572-1577 doi:10.1016/j.jacr.2025.08.021.

Radiation-induced sarcoma after glioma resection in patients with Li-Fraumeni syndrome: illustrative cases.

Kondapavulur S, Young JS, Berger MS

Journal of neurosurgery. Case lessons 2025; (10(23)).

Attenuated Li-Fraumeni syndrome with TP53 p.R181H in a Japanese patient with metastatic rectal adenocarcinoma: a case report.

Kasahara Y, Takahashi M, Kawamura Y, et al.

Familial cancer 2026; (25(1)):18 doi:10.1007/s10689-026-00529-4.