Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family

Report of a bi-allelic truncating germline mutation in TP53

(2018) Natasha J. Brown et al.   Familial Cancer

Li–Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53

(2017) Ruoji Zhou et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma

(2017) Albert Cornelius et al.   Frontiers in Pharmacology

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study

(2016) Anita Villani et al.   LANCET ONCOLOGY

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

(2015) Gaëlle Bougeard et al.   JOURNAL OF CLINICAL ONCOLOGY

GermlineTP53Mutations and the Changing Landscape of Li-Fraumeni Syndrome

(2014) Junne Kamihara et al.   HUMAN MUTATION

TP53 Mutations in Human Cancer: Database Reassessment and Prospects for the Next Decade

(2014) Bernard Leroy et al.   HUMAN MUTATION

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome

(2014) H. Ariffin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TP53p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient

(2013) Juliana Giacomazzi et al.   BMC CANCER

Mapping the p53 transcriptome universe using p53 natural polymorphs

(2013) B Wang et al.   CELL DEATH AND DIFFERENTIATION

Increased Oxidative Metabolism in the Li–Fraumeni Syndrome

(2013) Ping-Yuan Wang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Early onset HER2-positive breast cancer is associated with germlineTP53mutations

(2011) Amal Melhem-Bertrandt et al.   CANCER

Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: The Children's Hospital Los Angeles (CHLA) experience, 1991-2010

(2011) Alexa E. Gozali et al.   PEDIATRIC BLOOD & CANCER

Increased Incidence of Choroid Plexus Carcinoma Due to the Germline TP53 R337H Mutation in Southern Brazil

(2011) Gislaine Custodio et al.   PLoS One

Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in Southeast Brazil

(2010) Ana Luiza Seidinger et al.   CANCER

TP53 Alterations Determine Clinical Subgroups and Survival of Patients With Choroid Plexus Tumors

(2010) Uri Tabori et al.   JOURNAL OF CLINICAL ONCOLOGY

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

(2010) M. W. G. Ruijs et al.   JOURNAL OF MEDICAL GENETICS

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

(2009) Julie Tinat et al.   JOURNAL OF CLINICAL ONCOLOGY

Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families Withp53Germline Mutations

(2009) Kelly D. Gonzalez et al.   JOURNAL OF CLINICAL ONCOLOGY

Mouse Models of p53 Functions

(2009) G. Lozano   Cold Spring Harbor Perspectives in Biology