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 › ST8-CDH1
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Garcia-Pelaez J et al.
The Lancet. Oncology, 2023
36436516 (PubMed )
Supplement: mmc1.pdf
Somatic mutation profiling in BRCA-negative breast and ovarian cancer patients by multigene panel sequencing.
Kwong A et al.
American Journal of Cancer Research, 2020
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM5_ESM.xlsx › SD2
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
Hoyer J et al.
Bmc Cancer, 2018
A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.
Karami F et al.
Biomed Research International, 2013
Selected aspects of inherited susceptibility to prostate cancer and tumours of different site of origin.
Cybulski C
Hereditary Cancer in Clinical Practice, 2007
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