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_MOESM3_ESM.xlsx › Suppl._Data_1
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_3.
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C et al.
European Journal of Human Genetics : Ejhg, 2024
39402389 (PubMed )
Supplement: 41431_2024_1705_MOESM2_ESM.xlsx › PALB2
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2
F-box DNA Helicase 1 (FBH1) Contributes to the Destabilization of DNA Damage Repair Machinery in Human Cancers.
Watson AJ et al.
Cancers, 2023
37760409 (PubMed )
Supplement: cancers-15-04439-s001.zip › Supplementary_Table_S3.pdf
Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.
Valenzuela-Palomo A et al.
Cancers, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S18
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
Ng PS et al.
Journal of Medical Genetics, 2022
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Valenzuela-Palomo A et al.
The Journal of Pathology, 2022
34846068 (PubMed )
Supplement: PATH-256-321-s001.zip › path5839-sup-TablesS1-S11.docx
A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.
Chiang YC et al.
Biomedicines, 2021
34680501 (PubMed )
Supplement: biomedicines-09-01384-s001.zip › OV_NGS_Table_S1.pdf
Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference.
Nawar N et al.
Bioinformation, 2021
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
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1
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