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
Mutations of BRCA1, BRCA2, and PALB2 Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis.
Tsyganov MM et al.
Genes, 2023
37628606 (PubMed )
Supplement: genes-14-01554-s001.zip › genes-2485726-supplementary.pdf
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
35979650 (PubMed )
Supplement: HUMU-43-1921-s001.pdf
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_MOESM1_ESM.docx
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1
Functional assays for analysis of variants of uncertain significance in BRCA2.
Guidugli L et al.
Human Mutation, 2014
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