The number of druggable tumor-specific molecular aberrations has grown substantially in
the past decade, with a significant survival benefit obtained from biomarker matching …

The most common malignancies that develop in carriers of BAP1 germline mutations include
diffuse malignant mesothelioma, uveal and cutaneous melanoma, renal cell carcinoma, and …

The benefit of molecularly-informed therapies in cancer of unknown primary (CUP) is
unclear. Here, we use comprehensive molecular characterization by whole genome/exome …

Background It is estimated that more than 20% of ovarian cancer cases are associated with
a genetic predisposition that is only partially explained by germline mutations in the BRCA1 …

Background Germline variant evaluation in precision oncology opens new paths toward the
identification of patients with genetic tumor risk syndromes and the exploration of therapeutic …

Large scale genome sequencing allowed the identification of a massive number of genetic
variations, whose impact on human health is still unknown. In this review we analyze, by an …

Ovarian cancer (OC) is one of the leading causes of cancer-related deaths in women. Most
patients are diagnosed with advanced epithelial OC in their late 60s, and early-onset adult …

Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic
diagnosis of rare and unknown diseases and for identification of actionable cancer drivers …

In the complex and dynamic processes of replication, transcription, and translation of DNA
molecules, a large number of replication errors or damage can occur which lead to …

Abstract Multi-locus Inherited Neoplasia Allele Syndrome (MINAS) refers to individuals with
germline pathogenic variants in two or more cancer susceptibility genes (CSGs). With …