TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes

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

(2020) Thierry Frebourg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The evolutionary dynamics and fitness landscape of clonal hematopoiesis

(2020) Caroline J. Watson et al.   SCIENCE

Germline variation in O6-Methylguanine-DNA Methyltransferase (MGMT) as cause of hereditary colorectal cancer

(2019) Sami Belhadj et al.   CANCER LETTERS

Detection of Pathogenic Germline Variants Among Patients With Advanced Colorectal Cancer Undergoing Tumor Genomic Profiling for Precision Medicine

(2019) Y. Nancy You et al.   DISEASES OF THE COLON & RECTUM

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

(2019) Holly LaDuca et al.   GENETICS IN MEDICINE

Inherited DNA-Repair Defects in Colorectal Cancer

(2018) Saud H. AlDubayan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Germline Genetic Features of Young Individuals With Colorectal Cancer

(2018) Elena M. Stoffel et al.   GASTROENTEROLOGY

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

(2018) Huma Q Rana et al.   JNCI-Journal of the National Cancer Institute

Misdiagnosis of Li-Fraumeni Syndrome in a Patient With Clonal Hematopoiesis and a Somatic TP53 Mutation

(2018) Rachel L. Mitchell et al.   Journal of the National Comprehensive Cancer Network

A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation

(2018) Eran Kotler et al.   MOLECULAR CELL

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

(2018) Huma Q Rana et al.   JNCI-Journal of the National Cancer Institute

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

(2018) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis

(2018) Konstantin Weber-Lassalle et al.   HUMAN MUTATION

Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome

(2018) Cristina Fortuno et al.   HUMAN MUTATION

Mutational processes shape the landscape of TP53 mutations in human cancer

(2018) Andrew O. Giacomelli et al.   NATURE GENETICS

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

(2018) Lorena Martin-Morales et al.   PLoS One

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

(2018) Kelvin C. de Andrade et al.   HUMAN MUTATION

Next generation sequencing is informing phenotype: a TP53 example

(2017) R. O’Shea et al.   Familial Cancer

Somatic TP53 variants frequently confound germ-line testing results

(2017) Jeffrey N Weitzel et al.   GENETICS IN MEDICINE

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer

(2017) Matthew B. Yurgelun et al.   JOURNAL OF CLINICAL ONCOLOGY

Identification and Management of TP53 Gene Carriers Detected Through Multigene Panel Testing

(2017) Tuya Pal et al.   SOUTHERN MEDICAL JOURNAL

Accelerating Discovery of Functional Mutant Alleles in Cancer

(2017) Matthew T. Chang et al.   Cancer Discovery

InheritedTP53Mutations and the Li–Fraumeni Syndrome

(2017) Tanya Guha et al.   Cold Spring Harbor Perspectives in Medicine

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer

(2017) Rachel Pearlman et al.   JAMA Oncology

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes

(2017) Melissa S. DeRycke et al.   Molecular Genetics & Genomic Medicine

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer

(2016) Daniel Chubb et al.   Nature Communications

Somatic Mosaic Mutations inPPM1DandTP53in the Blood of Women With Ovarian Carcinoma

(2016) Elizabeth M. Swisher et al.   JAMA Oncology

Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes

(2015) D. P. Steensma et al.   BLOOD

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

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

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity

(2015) Matthew T Chang et al.   NATURE BIOTECHNOLOGY

GermlineTP53Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry

(2015) Matthew B. Yurgelun et al.   JAMA Oncology

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

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

Prion-like aggregation of mutant p53 in cancer

(2014) Jerson L. Silva et al.   TRENDS IN BIOCHEMICAL SCIENCES

Tumor Protein p53 (TP53) Testing and Li-Fraumeni Syndrome

(2013) April D. Sorrell et al.   Molecular Diagnosis & Therapy

Drastic Effect of GermlineTP53Missense Mutations in Li-Fraumeni Patients

(2012) Yasmine Zerdoumi et al.   HUMAN MUTATION

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

(2011) Xose S. Puente et al.   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Genetic variants in germline TP53 and MDM2 SNP309 are not associated with early onset colorectal cancer

(2008) Sajid A. Khan et al.   JOURNAL OF SURGICAL ONCOLOGY