BRCA2 and breast cancer: Functional assays have shown that BRCA2 missense variants identified as functionally aberrant and classified as pathogenic under the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines were associated with a slightly lower risk of breast cancer than protein-truncating variants in the BRCA2 DNA-binding domain (OR 5.15; 95% CI 3.43–7.83 versus OR 8.56; 95% CI 6.03–12.36) [49].