TY - JOUR TI - Clinical presentation of patients with mutations in moderate penetrance genes: a case series DO - https://doi.org/doi:10.7282/t3-k9bq-qw58 PY - 2019 AB - Although there is evidence in the literature of a connection between germline mutations in moderate penetrance genes and breast and/or ovarian cancer susceptibility, there is much to be discovered about genotype-phenotype correlations and cancer spectrums. This case series adds to the descriptive literature regarding clinical presentation and family history in patients with germline mutations in moderate penetrance breast and/or ovarian cancer genes. Eleven patients were included in this case series who were identified to have a pathogenic or likely pathogenic variant, in a moderate penetrance breast and/or ovarian cancer gene. Genes included ATM (n = 4), BARD1 (n = 1), CHEK2 (n = 2), PALB2 (n = 2), and RAD51C (n = 2). Results from this case series illustrate areas for future research and add to the existing knowledge regarding phenotype seen in patients who harbor pathogenic variants in moderate penetrance genes. KW - Microbiology and Molecular Genetics KW - Germ cells KW - Cancer -- Genetic aspects LA - English ER -