Genomic tests expand diagnostic and screening opportunities but also identify genetic
variants of uncertain clinical significance (VUSs). Only a minority of VUSs are likely to prove …

Importance Moving to multigene testing for all women with breast cancer (BC) could identify
many more mutation carriers who can benefit from precision prevention. However, the cost …

Guidelines In 2005, the United States Preventive Services Task Force (USPSTF) released a
grade B recommendation indicating that “women whose family history is associated with an …

Research in the human genome sciences generates a substantial amount of genetic data for
hundreds of thousands of individuals, which concomitantly increases the number of variants …

Simple Summary Unselected multigene testing at breast cancer (BC) diagnosis has been
reported to be cost-effective compared with family history (FH)/clinical-criteria-based testing …

Simple Summary In the BRIDGES project, the breast/ovarian cancer gene RAD51D has
been sequenced in> 113,000 women. In the present study, we focused on the impact that 11 …

Simple Summary Genetic variants in more than 10 genes are known to confer moderate to
high risks to breast and/or ovarian cancers (BC/OC). In the framework of the international …

The prevalence and contribution of BRCA1/2 (BRCA) pathogenic variants (PVs) to the
cancer burden in Latin America are not well understood. This study aims to address this …

The diagnosis of neuromuscular diseases (NMDs) has been progressively evolving from the
grouping of clinical symptoms and signs towards the molecular definition. Optimal clinical …

Background We aimed to identify the relationship between the genomic characteristics and
clinical outcomes of oligo-metastatic breast cancer. Methods Oligo-metastatic breast cancer …