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_MOESM5_ESM.xlsx › Suppl._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
p53 Dysregulation in Breast Cancer: Insights on Mutations in the TP53 Network and p53 Isoform Expression.
Steffens Reinhardt L et al.
International Journal of Molecular Sciences, 2023
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S11-final_16052022.xlsx › Table_S11B
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
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.
Li N et al.
Npj Breast Cancer, 2021
33980861 (PubMed )
Supplement: 41523_2021_255_MOESM1_ESM.pdf
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test
Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability.
Zarrizi R et al.
The Journal of Clinical Investigation, 2020
Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations.
Suszynska M et al.
Genes, 2020
32679805 (PubMed )
Supplement: genes-11-00798-s001.zip › Supplementary_Figure_and_Tables_Suszynska_et_al_Genes › Supplementary_Table_S2_Suszynska_et_al_Genes.xlsx › Table_S2
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
Thompson ER et al.
Breast Cancer Research : Bcr, 2015
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
25225577 (PubMed )
Supplement: 1897-4287-12-19-S1.docx
Select a paper to view details