Abstract The European Collaborative on Personalized Early Detection and Prevention of
Breast Cancer (ENVISION) brings together several international research consortia working …

The promising expectations about personalized medicine have opened the path to routine
large-scale sequencing and increased the importance of genetic counseling for hereditary …

Abstract Background The American College of Medical Genetics and Genomics (ACMG)-
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …

The ENIGMA research consortium develops and applies methods to determine clinical
significance of variants in hereditary breast and ovarian cancer genes. An ENIGMA …

The unknown pathogenicity of a significant number of variants found in cancer-related
genes is attributed to limited epidemiological data, resulting in their classification as variant …

Abstract The American College of Medical Genetics and Genomics a nd the Association for
Molecular Pathology (ACMG-AMP) system for variant classification is score based with five …

Co-observation of a gene variant with a pathogenic variant in another gene that explains the
disease presentation has been designated as evidence against pathogenicity for commonly …

Protein-truncating variants in the breast cancer susceptibility gene CHEK2 are associated
with a moderately increased risk of breast cancer. By contrast, for missense variants of …

Abstract Background The Critical Assessment of Genome Interpretation (CAGI) aims to
advance the state-of-the-art for computational prediction of genetic variant impact …

Determination of the clinical relevance of rare germline variants of uncertain significance
(VUSs) in the BRCA2 cancer predisposition gene remains a challenge as a result of limited …