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The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute

Cell death and differentiation, 2022-05, Vol.29 (5), p.1071-1073

2022

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Stomaching Multigene Panel Testing: What to Do About CDH1?

JNCI : Journal of the National Cancer Institute, 2020-04, Vol.112 (4), p.325-326

2020

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

Human mutation, 2021-03, Vol.42 (3), p.223-236

2021

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Spectrum and Excess Risk of Gastrointestinal Tumors in Li-Fraumeni Syndrome

Clinical gastroenterology and hepatology, 2024-03, Vol.22 (3), p.662-665.e1

2024

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Spectrum and Incidence of Skin Cancer among Individuals with Li-Fraumeni Syndrome

Journal of investigative dermatology, 2022-09, Vol.142 (9), p.2534-2537.e1

2022

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

Human mutation, 2019-01, Vol.40 (1), p.97-105

2019

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Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts

Cancer research (Chicago, Ill.), 2020-01, Vol.80 (2), p.354-360

2020

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Correction to: Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer

Breast cancer research and treatment, 2022, Vol.191 (1), p.227-227

2022

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Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk

Cancer epidemiology, biomarkers & prevention, 2022-09, Vol.31 (9), p.1769-1779

2022

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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

American journal of medical genetics. Part A, 2024-04, Vol.194 (4), p.e63477-n/a

2024

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P091: Variants at variance: An assessment of discordant classifications and phenotypes among TP53 variants from the international LiFT UP study

Genetics in Medicine Open, 2024, Vol.2, p.100972, Article 100972

2024

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Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants

HGG advances, 2024-01, Vol.5 (1), p.100242, Article 100242

2024

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Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic

Human mutation, 2019-06, Vol.40 (6), p.832-833

2019

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Abstract 2036: The Bull's Eye: A research tool to characterize family, friends and social networks within a Li-Fraumeni Syndrome family

Cancer research (Chicago, Ill.), 2020-08, Vol.80 (16_Supplement), p.2036-2036

2020

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Cancer Incidence, Patterns, and Genotype-Phenotype Associations in an Observational Cohort Study of Individuals with Pathogenic or Likely Pathogenic Germline TP53 Variants

The lancet oncology, 2021-11, Vol.22 (12), p.1787-1798

2021

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SDHD Gene Mutations: Looking Beyond Head and Neck Tumors

AACE clinical case reports, 2018-05, Vol.4 (3), p.186-190

2018

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Su1953 Lack of Mismatch Repair Gene Germline Mutation Identified in a Subset of Colorectal Cancers With Microsatellite Instability-High and Mismatch Repair Deficiency: Characterizing Lynch-Like Syndrome

Gastroenterology (New York, N.Y. 1943), 2015-04, Vol.148 (4), p.S-559-S-559

2015

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Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies

American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.866-876

2020

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Penetrance of different cancer types in families with Li-Fraumeni syndrome: a validation study using multi-center cohorts

Cancer research (Chicago, Ill.), 2019-11, Vol.80 (2), p.354-360

2019

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Response to: Concern regarding classification of germline TP53 variants as likely pathogenic

Human mutation, 2019-06, Vol.40 (6), p.832-833

2019

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Subsequent neoplasm risk associated with rare variants in DNA repair and clinical radiation sensitivity syndrome genes: A report from the Childhood Cancer Survivor Study

Journal of clinical oncology, 2019-05, Vol.37 (15_suppl), p.10028-10028

2019

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AN AGGRESSIVE TEMPORAL BONE SDHC PARAGANGLIOMA ASSOCIATED WITH INCREASED HIF-2α SIGNALING

Endocrine practice, 2016-02, Vol.22 (2), p.190-195

2016

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AN AGGRESSIVE TEMPORAL BONE SDHC PARAGANGLIOMA ASSOCIATED WITH INCREASED HIF-2[alpha] SIGNALING

Endocrine practice, 2016-02, Vol.22 (2), p.190

2016

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The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute

Stomaching Multigene Panel Testing: What to Do About CDH1?

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

Spectrum and Excess Risk of Gastrointestinal Tumors in Li-Fraumeni Syndrome

Spectrum and Incidence of Skin Cancer among Individuals with Li-Fraumeni Syndrome

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

Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts

Correction to: Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer

Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

P091: Variants at variance: An assessment of discordant classifications and phenotypes among TP53 variants from the international LiFT UP study

Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants

Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic

Abstract 2036: The Bull's Eye: A research tool to characterize family, friends and social networks within a Li-Fraumeni Syndrome family

Cancer Incidence, Patterns, and Genotype-Phenotype Associations in an Observational Cohort Study of Individuals with Pathogenic or Likely Pathogenic Germline TP53 Variants

SDHD Gene Mutations: Looking Beyond Head and Neck Tumors

Su1953 Lack of Mismatch Repair Gene Germline Mutation Identified in a Subset of Colorectal Cancers With Microsatellite Instability-High and Mismatch Repair Deficiency: Characterizing Lynch-Like Syndrome

Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies

Penetrance of different cancer types in families with Li-Fraumeni syndrome: a validation study using multi-center cohorts

Response to: Concern regarding classification of germline TP53 variants as likely pathogenic

Subsequent neoplasm risk associated with rare variants in DNA repair and clinical radiation sensitivity syndrome genes: A report from the Childhood Cancer Survivor Study

AN AGGRESSIVE TEMPORAL BONE SDHC PARAGANGLIOMA ASSOCIATED WITH INCREASED HIF-2α SIGNALING

AN AGGRESSIVE TEMPORAL BONE SDHC PARAGANGLIOMA ASSOCIATED WITH INCREASED HIF-2[alpha] SIGNALING

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