Judith Penkert

Carl Neuberg Str. 1
Hannover, NI 30625, Germany

Last Updated: 09/26/2026

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Found 16 publications

Urgent need to recognize that Disease-Causing TP53 variants with atypical penetrance require distinct clinical recommendations.

Urgent need to recognize that Disease-Causing TP53 variants with atypical penetrance require distinct clinical recommendations.

Journal: Journal of the National Cancer Institute

Published: October 20, 2025

Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and Identifies SMARCAL1 as a Novel Osteosarcoma Predisposition Gene.

Investigation of DNA Damage Response Genes Validates the Role of DNA Repair in Pediatric Cancer Risk and Identifies SMARCAL1 as a Novel Osteosarcoma Predisposition Gene.

Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Published: October 09, 2025

Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.

Comprehensive investigation of DNA damage repair genes in children with cancer identifies SMARCAL1 as novel osteosarcoma predisposition gene.

Journal: medRxiv : the preprint server for health sciences

Published: June 04, 2025

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.

Journal: Genome medicine

Published: April 15, 2025

Model of care for individuals with rare cancer predisposition syndromes in Germany.

Model of care for individuals with rare cancer predisposition syndromes in Germany.

Journal: The Lancet regional health. Europe

Published: January 23, 2025

Cancer risk in carriers of TP53 germline variants grouped into different functional categories.

Cancer risk in carriers of TP53 germline variants grouped into different functional categories.

Journal: JNCI cancer spectrum

Published: November 07, 2024

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.

Journal: iScience

Published: June 11, 2024

Research on Rare Diseases in Germany - The cancer predisposition syndrome registry.

Research on Rare Diseases in Germany - The cancer predisposition syndrome registry.

Journal: Journal of health monitoring

Published: August 10, 2023

Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.

Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.

Journal: Journal of hematology & oncology

Published: June 27, 2022

SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome.

SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome.

Journal: The American journal of surgical pathology

Published: April 21, 2022

Plasma Metabolome Signature Indicative of BRCA1 Germline Status Independent of Cancer Incidence.

Plasma Metabolome Signature Indicative of BRCA1 Germline Status Independent of Cancer Incidence.

Journal: Frontiers in oncology

Published: November 08, 2020

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Published: December 17, 2019

Showing 1-12 of 16

Last Updated: 09/26/2026