Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.
Berrino E et al.
Genome Medicine, 2022
36038884 (PubMed )
Supplement: 13073_2022_1104_MOESM5_ESM.xlsx › Foglio1
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
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
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
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5
Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.
Caleca L et al.
Frontiers in Oncology, 2018
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
27930734 (PubMed )
Supplement: pone.0167847.s002.xls › S2
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.
Hellebrand H et al.
Human Mutation, 2011
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