The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Molecular alterations in cancer genes and associated signaling pathways are used to inform
new treatments for precision medicine in cancer. Small molecule inhibitors and monoclonal …

Purpose The 2015 American College of Medical Genetics and Genomics–Association for
Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a …

Genomic sequencing provides many opportunities in newborn clinical care, but the
challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to …

Simple Summary With ever-increasing incidence, breast cancer is considered a most
diagnosed type of cancer among women worldwide. Breast cancer arises through malignant …

Background Child–parent screening for familial hypercholesterolemia has been proposed to
identify persons at high risk for inherited premature cardiovascular disease. We assessed …

Importance Detection of disease-associated variants in theBRCA1andBRCA2 (BRCA1/2)
genes allows for cancer prevention and early diagnosis in high-risk individuals. Objectives …

New evidence on breast Magnetic Resonance Imaging (MRI) screening has become
available since the American Cancer Society (ACS) last issued guidelines for the early …

Women at high risk of developing breast cancer are a heterogeneous group of women
including those with and without high-risk germline mutation/s. Prevention in these women …

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