Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.W1140G
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PALB2

NM_024675.4:p.W1140G

Associated Papers

Mutagenesis of the PALB2 WD40 domain identifies variants defective in interaction with BRCA2 and DNA repair.

Gomes TT et al.

The Journal of Biological Chemistry, 2025

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

PALB2 Variants: Protein Domains and Cancer Susceptibility.

Nepomuceno TC et al.

Trends in Cancer, 2021

The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response.

Zhang Y et al.

Human Mutation, 2021

Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference.

Nawar N et al.

Bioinformation, 2021

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.

Abdel-Rahman MH et al.

Ophthalmology, 2020

PALB2 Genetic Variants: Can Functional Assays Assist Translation?

Southey MC et al.

Trends in Cancer, 2020

Functional characterization of 84 PALB2 variants of uncertain significance.

Wiltshire T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.

Wu S et al.

Frontiers in Oncology, 2020

Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Boonen RACM et al.

Frontiers in Molecular Biosciences, 2020

A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.

Rodrigue A et al.

Nucleic Acids Research, 2019

Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.

Hartley T et al.

Hereditary Cancer in Clinical Practice, 2014

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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."