The study of hereditary cancer, which accounts for~ 10% of cancer cases worldwide is an
important subfield of oncology. Our understanding of hereditary cancers has greatly …

Clinical interpretation of missense variants is challenging because the majority identified by
genetic testing are rare and their functional effects are unknown. Consequently, most …

Pathogenic germline variants in TP53 predispose carriers to the multi‐cancer Li‐Fraumeni
syndrome (LFS). Widespread multigene panel testing is identifying TP53 pathogenic …

With the recent explosion in high-throughput genotyping technology, the amount and quality
of SNP data have increased exponentially, facilitating the discovery of multiple uncommon …

Correctly identifying the true driver mutations in a patient's tumor is a major challenge in
precision oncology. Most efforts address frequent mutations, leaving medium-and low …

Breast cancer among Palestinian women has lower incidence than in Europe or North
America, yet is very frequently familial. We studied genetic causes of this familial clustering …

Simple Summary This study examined the efficacy and diagnostic yield of founder variant
testing as an initial screening method for individuals with a personal or family history of …

Pathogenic TP53 germline variants cause young-onset breast cancer and other cancers of
the Li-Fraumeni syndrome (LFS) spectrum, but the clinical consequences of partial-loss-of …

Background The role of somatic mutations in breast cancer prognosis and management
continues to be recognized. However, data on the molecular profiles of Arab women are …

TP53 pathogenic variants cause Li-Fraumeni syndrome (LFS), with some variants causing
an attenuated phenotype. Herein, we describe the clinical phenotype and genetic …