Purpose Three genetic conditions—hereditary breast and ovarian cancer syndrome, Lynch
syndrome, and familial hypercholesterolemia—have tier 1 evidence for interventions that …

Purpose We investigated the frequencies and characteristics of intragenic copy-number
variants (CNVs) in a deep sampling of disease genes associated with monogenic disorders …

Homologous recombination (HR) is a vital process for repairing DNA double-strand breaks.
Germline variants in the HR pathway, comprising at least 10 genes, such as BRCA1 …

Germline mutations in the BRCA1 or BRCA2 tumour-suppressor genes are strong predictors
of breast and/or ovarian cancer development. The contribution of these mutations to breast …

Mutations in the BRCA1 and BRCA2 genes predispose afflicted individuals to breast,
ovarian, and other cancers. The BRCA-encoded products form complexes with other tumor …

Breast and ovarian cancers are some of the most common tumors in females, and the
genetic predisposition is emerging as one of the key risk factors in the development of these …

All cancers develop as a result of mutations in certain genes, such as those involved in the
regulation of cell growth and/or DNA repair, 1, 2 but not all of these mutations are inherited …

DNA repair genes are frequently mutated in cancer, yet limited data exist regarding the
overall genomic landscape and functional implications of these alterations in their entirety …

Hereditary cancer syndromes account for nearly 10% of cancers even though they are often
underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in …

Background Investigations of the associations with colorectal cancer have yielded conflicting
results. The aim of our study was to synthesize the research on colorectal cancer risks in …