Li-Fraumeni Syndrome

Li-Fraumeni syndrome in an inherited predisposition to a range of cancers due to a mutation in the tumor suppressor gene TP53. The diagnosis is made if cancer occurs at a young age and there is also a family history of sarcoma or cancer at a young age. Find the latest research on Li-Fraumeni syndrome here.

May 28, 2020
Open Access

Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes

European Journal of Human Genetics : EJHG
Thierry FrebourgEuropean Reference Network GENTURIS
June 25, 2020

Lung adenocarcinoma in a patient with Li-Fraumeni syndrome bearing a novel germ-line mutation, TP53R333Vfs*12

Japanese Journal of Clinical Oncology
Shodai TakahashiHiroyuki Shibata
March 21, 2020

Hereditary predisposition to tumors of the central and peripheral nervous systems

Annales de pathologie
Baptiste Sourty, Audrey Rousseau
April 1, 2020
Open Access

Metachronic Breast and Cerebellar Neoplasm in a Young Patient

Revista brasileira de ginecologia e obstetrícia : revista da Federação Brasileira das Sociedades de Ginecologia e Obstetrícia
Jéssika de Oliveira NascimentoRebeca Espelho Storch
March 18, 2020

Brief report: High prevalence of somatic oncogenic driver alterations in non-small cell lung cancer patients with Li-Fraumeni Syndrome

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer
Laura MezquitaBenjamin Besse
March 12, 2020
Open Access

Li-Fraumeni Exploration Consortium Data Coordinating Center: Building an Interactive Web-Based Resource for Collaborative International Cancer Epidemiology Research for a Rare Condition

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
Phuong L MaiJeffrey N Weitzel
July 18, 2020

A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers

Cancer Research
Jacquelyn PowersKara N Maxwell
June 6, 2020

Electronic stabilization by occupational disorder in the ternary bismuthide Li3-x-y Inx Bi (x ≃ 0.14, y ≃ 0.29)

Acta Crystallographica. Section C, Structural Chemistry
Alexander Ovchinnikov, Svilen Bobev
June 24, 2020
Open Access

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

Journal of Medical Genetics
Helen HansonConsensus Group Members
April 10, 2020

Definition of Redox Centers in Reactions of Lithium Intercalation in Li3 RuO4 Polymorphs

Journal of the American Chemical Society
Haifeng LiJordi Cabana
February 23, 2020
Open Access

Adjuvant radiotherapy induces secondary tumor events in breast cancer patients with Li-Fraumeni syndrome

Annals of Oncology : Official Journal of the European Society for Medical Oncology
K RounisE Saloustros
May 1, 2020
Open Access

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

MedRxiv : the Preprint Server for Health Sciences
Cristina FortunoSharon A Savage
March 19, 2020
Case Report

Cutaneous Pleomorphic Fibromas Arising in Patients with Germline TP53 Mutations

Journal of Cutaneous Pathology
Jeffrey M CloutierRyanne A Brown
April 30, 2020
Open Access

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

Journal for Immunotherapy of Cancer
Liting ChenJianfeng Zhou
March 28, 2020

Secondary Sarcomas: Biology, Presentation, and Clinical Care

American Society of Clinical Oncology Educational Book
Vanessa EuloAngela C Hirbe
July 7, 2020

Challenges of screening germline predispositions in children

[Rinshō ketsueki] The Japanese journal of clinical hematology
Atsushi Manabe
June 10, 2020
Open Access

The function of a heterozygous p53 mutation in a Li-Fraumeni syndrome patient

PloS One
Yang LiYanxin Li

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