Associated Papers
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.
Stubbins RJ et al.
Leukemia, 2025
40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM3_ESM.xls › CHEK2_Supplemental_Table_2_v25
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.
Wen S et al.
Nature Genetics, 2025
39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST22
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.
McCarthy-Leo CE et al.
Plos Genetics, 2024
39146382 (PubMed )
Supplement: pgen.1011375.s010.xlsx › All_Assays
Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.
Culliford R et al.
Nature Communications, 2024
39009593 (PubMed )
Supplement: 41467_2024_49692_MOESM4_ESM.xlsx › Supp._Data_3
Novel Candidate loci and Pathogenic Germline Variants Involved in Familial Hematological Malignancies Revealed by Whole-Exome Sequencing.
Andrés-Zayas C et al.
Cancers, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
36493725 (PubMed )
Supplement: mmc1.xlsx › Table_S8
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
Pereira JZ et al.
Molecular Biology Reports, 2022
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B et al.
Human Molecular Genetics, 2022
35441217 (PubMed )
Supplement: hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx › SuppTable1A
Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer.
Megid TBC et al.
Frontiers in Oncology, 2022
Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
Ren M et al.
Breast Cancer Research and Treatment, 2021
34196900 (PubMed )
Supplement: 10549_2021_6305_MOESM1_ESM.xlsx › Supplemental_Table_3
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_6
Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.
Bishop MR et al.
Plos One, 2020
32866190 (PubMed )
Supplement: pone.0238295.s002.xlsx › S2_Table
Efficiency of olaparib in colorectal cancer patients with an alteration of the homologous repair protein.
Ghiringhelli F et al.
World Journal of Gastroenterology, 2016
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