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_middle_region
Utilization of cytologic cell blocks for targeted sequencing of solid tumors.
Vormittag-Nocito E et al.
Cancer Medicine, 2023
36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1
Epigenetic and genomic profiling of chordoid meningioma: implications for clinical management.
Daoud EV et al.
Acta Neuropathologica Communications, 2022
35440040 (PubMed )
Supplement: 40478_2022_1362_MOESM2_ESM.xlsx › chordoid_mutations
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
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.
Boonen RACM et al.
Frontiers in Molecular Biosciences, 2020
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
Boonen RACM et al.
Nature Communications, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_4__Consensus_classifications_for_all_211_resolved_variants.xlsx › Supplemental_Table_4
Outcomes of retesting BRCA negative patients using multigene panels.
Yadav S et al.
Familial Cancer, 2017
Poly (ADP-Ribose) Polymerase Inhibitor Hypersensitivity in Aggressive Myeloproliferative Neoplasms.
Pratz KW et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
Thompson ER et al.
Breast Cancer Research : Bcr, 2015
Novel germline PALB2 truncating mutations in African American breast cancer patients.
Zheng Y et al.
Cancer, 2012
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