Associated Papers
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 › ST10-MMR
Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.
Nunziato M et al.
Frontiers in Medicine, 2022
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
Choi YY et al.
Scientific Reports, 2021
34285288 (PubMed )
Supplement: 41598_2021_94292_MOESM1_ESM.xlsx › Table_S2.
Prevalence and molecular characteristics of DNA mismatch repair deficient endometrial cancer in a Japanese hospital-based population.
Yamamoto A et al.
Japanese Journal of Clinical Oncology, 2021
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
Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.
Terashima T et al.
Oncotarget, 2019
31666926 (PubMed )
Supplement: oncotarget-10-5949-s002.xlsx › Table_S3
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
30850667 (PubMed )
Supplement: 41598_2019_40571_MOESM3_ESM.xlsx › Supp_Table_2
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
Gastric cancers with microsatellite instability sharing clinical features, chemoresistance and germline MSH6 variants.
Yamashita K et al.
Clinical Journal of Gastroenterology, 2013
Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.
Limburg PJ et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2011
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