Associated Papers
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.
Boonen RACM et al.
Nature Communications, 2026
41554690 (PubMed )
Supplement: 41467_2025_67252_MOESM6_ESM.xlsx › SpliceAI_CC_and_WD40
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
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
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