Associated Papers
Germline variants observed in pediatric cancer patients related to hereditary breast and ovarian cancer in adults.
Daugs K et al.
International Journal of Cancer, 2025
40857049 (PubMed )
Supplement: IJC-157-2447-s001.xlsx › Suppl.Tab5_187VUS_n372
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4b.xlsx › All_candidate_mutations
Rare variants modulating phenotype in NF1 carriers.
Pasquinelli E et al.
Scientific Reports, 2025
40653509 (PubMed )
Supplement: 41598_2025_9751_MOESM1_ESM.pdf
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLRBS7_het
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15
Establishment and Thorough Characterization of Xenograft (PDX) Models Derived from Patients with Pancreatic Cancer for Molecular Analyses and Chemosensitivity Testing.
Behrens D et al.
Cancers, 2023
38136299 (PubMed )
Supplement: cancers-15-05753-s001.zip › Behrens_Cancers2023_SuppTables.xlsx › Table_S2
Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.
Zhunussova G et al.
Oncotarget, 2023
37791908 (PubMed )
Supplement: oncotarget-14-28518-s004.xlsx › Supplementary_Table_3
Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan.
Rashid MU et al.
Familial Cancer, 2023
Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.
Al-Kafaji G et al.
Plos One, 2023
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3
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 › Variant_summary
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke C et al.
Breast Cancer Research : Bcr, 2020
32295625 (PubMed )
Supplement: 13058_2020_1273_MOESM1_ESM.xlsx › Table_S2
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Del Valle J et al.
Cancers, 2020
32235514 (PubMed )
Supplement: cancers-12-00829-s001.zip › cancers-727310-supplementary › Table_S3.xlsx › Supplementary_Table_3
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 2019
30680046 (PubMed )
Supplement: 13053_2018_102_MOESM5_ESM.xlsx › 192_Variants
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.
Maung KZY et al.
Blood Cancer Journal, 2018
29891941 (PubMed )
Supplement: 41408_2018_90_MOESM2_ESM.xlsx › Supplementary_Table_S2
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AR
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
Update of the human and mouse Fanconi anemia genes.
Dong H et al.
Human Genomics, 2015
Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.
García MJ et al.
Carcinogenesis, 2009
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