Varaico: Literature-Extracted Genetic Variants

Gene:PPM1D
Variant:p.N512delFs
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PPM1D

NM_003620.4:p.N512delFs

Associated Papers

A framework for the molecular identification of CHIP for clinical research.

Harraka P et al.

Hgg Advances, 2026

41566785 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc5.xlsx › Sheet_1

Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.

Eldomery MK et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41332868 (PubMed )
Supplement: media-6.xlsx › Sheet1

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc9.xlsx › Sheet1

UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP.

Tian S et al.

Genomics, Proteomics & Bioinformatics, 2025

40300108 (PubMed )
Supplement: qzaf040_supplementary_data.zip › Table_S6.xlsx › Sheet1

Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.

Cunningham JL et al.

Developmental Neuroscience, 2025

Case Report: Novel truncating PPM1D variant in a dichorionic diamniotic (DCDA) twin with Jansen-de Vries syndrome. an updated perspective.

Merida De la Torre FJ et al.

Frontiers in Genetics, 2025

40630121 (PubMed )
Supplement: Table1.xlsx › Table_S1

Genomic alterations associated with resistance and circulating tumor DNA dynamics for early detection of progression on CDK4/6 inhibitor in advanced breast cancer.

Kindt CK et al.

International Journal of Cancer, 2024

39128978 (PubMed )
Supplement: supplement_1.pdf

Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.

Hirsch P et al.

Blood Cancer Journal, 2024

38871702 (PubMed )
Supplement: 41408_2024_1078_MOESM1_ESM.pdf

Stimulating T cell responses against patient-derived breast cancer cells with neoantigen peptide-loaded peripheral blood mononuclear cells.

Sueangoen N et al.

Cancer Immunology, Immunotherapy : Cii, 2024

38349410 (PubMed )
Supplement: 262_2024_3627_MOESM6_ESM.pdf

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.

Uddin MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732181 (PubMed )
Supplement: media-2.xlsx › Table_S3

Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.

von Scheidt M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Clonal hematopoiesis in patients with stem cell mobilization failure: a nested case-control study.

Hazenberg CLE et al.

Blood Advances, 2023

36219593 (PubMed )
Supplement: BLOODA_ADV-2022-007497-mmc1.pdf

PPM1D in Solid and Hematologic Malignancies: Friend and Foe?

Zhang L et al.

Molecular Cancer Research : Mcr, 2022

Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Gutierrez-Rodrigues F et al.

Haematologica, 2022

34587721 (PubMed )
Supplement: 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf

PPM1D mutations are oncogenic drivers of de novo diffuse midline glioma formation.

Khadka P et al.

Nature Communications, 2022

35105861 (PubMed )
Supplement: 41467_2022_28198_MOESM1_ESM.pdf

Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer.

Oh J et al.

Journal of Cancer, 2021

34093829 (PubMed )
Supplement: jcav12p4288s2.xlsx › Table_S3

Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome.

Li Z et al.

Molecular Genetics & Genomic Medicine, 2020

Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon.

Burocziova M et al.

Cell Death & Disease, 2019

Novel truncating PPM1D mutation in a patient with intellectual disability.

Porrmann J et al.

European Journal of Medical Genetics, 2019

Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.

Weber-Lassalle K et al.

Human Mutation, 2018

PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.

Pharoah PDP et al.

Journal of the National Cancer Institute, 2016

PPM1D mutations in circulating white blood cells and the risk for ovarian cancer.

Akbari MR et al.

Journal of the National Cancer Institute, 2014

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.

Ruark E et al.

Nature, 2013

Post PARP inhibitor therapy-related acute megakaryoblastic leukemia in a patient with germline BRCA1-mutated high-grade serous ovarian carcinoma.

Tariq H et al.

Leukemia & Lymphoma, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."