Associated Papers
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST8-CDH1
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1
Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.
Abdel-Wahab R et al.
Scientific Reports, 2020
33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
Selvanathan A et al.
Genes, 2020
32260281 (PubMed )
Supplement: genes-11-00391-s001.zip › genes-715863-supplementary.xlsx › Final_Variant_List
Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.
Aronson M et al.
Current Oncology (toronto, Ont.), 2020
Novel human pathological mutations. Gene symbol: APC. Disease: familial adenomatous polyposis.
Mavrogiannis LA et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: SLC34A2. Disease: pulmonary alveolar microlithiasis.
Ellison J
Human Genetics, 2009
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