BRCA2 is a clinically actionable gene implicated in breast and ovarian cancer
predisposition that has become a high priority target for improving the classification of …

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 There is a significant percentage of hereditary breast and ovarian cancer
(HBOC) cases that remain undiagnosed, because no pathogenic variant is detected through …

Over 20% of the DNA mismatch repair (MMR) germline variants in suspected Lynch
syndrome patients are classified as variants of uncertain significance (VUS). Well …

A substantial proportion of pathogenic variants associated with an increased risk of
hereditary cancer are sequence variants affecting RNA splicing. The classification of these …

Pathogenic variants in several genes involved in the function or regulation of smooth muscle
cells (SMC) are known to predispose to congenital heart disease and thoracic aortic …

The singular BRCA1/2 mutational landscape of Asturias is updated 10 years after the first
study. We analyzed BRCA1 and BRCA2 pathogenic variants in 1653 index cases. In total …

Background Exon deletions are generally considered pathogenic, particularly when they are
located out of frame. Here, we describe a pediatric, female patient presenting with …

Colorectal, hamartomatous juvenile polyps occur as part of different hereditary syndromes,
including Juvenile polyposis syndrome and PTEN-hamartoma tumour syndrome. However …

Germline pathogenic variants in BRCA1 and BRCA2 genes (BRCA1/2) explain an important
fraction of hereditary breast/ovarian cancer (HBOC) cases. Genetic testing generally …