BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer
and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of …

Personalized medicine has largely been enabled by the integration of genomic and other
data with electronic health records (EHRs) in the United States and elsewhere. Increased …

Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …

Prolonged aPTT in Patients with Covid-19 In this study, 20% of patients with Covid-19 had a
prolonged activated partial-thromboplastin time. In 90% of these cases, the cause was lupus …

Severe obesity is a rapidly growing global health threat. Although often attributed to
unhealthy lifestyle choices or environmental factors, obesity is known to be heritable and …

Mutations in BRCA1 and BRCA2 predispose individuals to certain cancers,–, and disease-
specific screening and preventative strategies have reduced cancer mortality in affected …

The UK Biobank is a prospective study of 502,543 individuals, combining extensive
phenotypic and genotypic data with streamlined access for researchers around the world …

Hereditary breast and ovarian cancer syndrome (HBOC) is clinically defined by family
history criteria, and molecularly defined by identification of germline pathogenic variants …

Three inherited autosomal dominant conditions—BRCA-related hereditary breast and
ovarian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH) …

Purpose An estimated 10% of breast and ovarian cancers result from hereditary causes.
Current testing guidelines for germ line susceptibility genes in patients with breast …