Genetic testing for prostate cancer is rapidly growing and is increasingly being driven by
precision medicine. Rates of germline pathogenic variants have been reported in up to 15 …

The transition from analog to digital technologies in clinical laboratory genomics is ushering
in an era of “big data” in ways that will exceed human capacity to rapidly and reproducibly …

Summary The American College of Medical Genetics and Genomics (ACMG)/Association for
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …

The spectrum of germline predisposition in pediatric cancer continues to be realized. Here
we report 751 patients with solid tumors who underwent prospective matched tumor–normal …

BACKGROUND Transcriptome sequencing (RNA-seq) improves diagnostic rates in
individuals with suspected Mendelian conditions to varying degrees, primarily by directing …

Lynch syndrome (LS) is one of the most prevalent hereditary cancer syndromes in humans
and accounts for some 3% of unselected patients with colorectal or endometrial cancer and …

Importance Personalized surveillance, prophylaxis, and cancer treatment options for
individuals with hereditary cancer predisposition are informed by results of germline genetic …

Background Genetic testing (GT) for hereditary cancer predisposition is traditionally
performed on selected genes based on established guidelines for each cancer type …

Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and
predisposition to cancer. However, identification of variants that impact splicing remains a …

Breast cancer is the most common cancer diagnosed in women worldwide, with
approximately 5–10% of cases attributed to high penetrance hereditary breast cancer (HBC) …