Breast cancer is a common cancer affecting a large number of patients. Notably, 5–10% of
all breast cancer patients are genetically predisposed to cancers. Although the most …

The cloning of the breast cancer susceptibility genes BRCA1 and BRCA2 nearly two
decades ago helped set in motion an avalanche of research exploring how genomic …

Background Helicobacter pylori infection is a well-known risk factor for gastric cancer.
However, the contribution of germline pathogenic variants in cancer-predisposing genes …

Importance The clinical importance of genetic testing ofBRCA1andBRCA2in breast, ovarian,
prostate, and pancreatic cancers is widely recognized. However, there is insufficient …

Accurate variant calling in next generation sequencing (NGS) is critical to understand cancer
genomes better. Here we present VarDict, a novel and versatile variant caller for both DNA …

Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and
surveillance for hereditary breast cancer. Large-scale studies are needed to inform future …

Purpose Despite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer
predisposition, there is limited guidance surrounding indications for testing and genes to …

Purpose: Familial pancreatic cancer kindreds contain at least two affected first-degree
relatives. Comprehensive data are needed to assist clinical risk assessment and genetic …

Purpose We investigated the frequencies and characteristics of intragenic copy-number
variants (CNVs) in a deep sampling of disease genes associated with monogenic disorders …

Existing guidance regarding clinically informed germline testing for patients with cancer is
effective for evaluation of classic hereditary cancer syndromes and established gene/cancer …