BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer
and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of …

PURPOSE To analyze the prevalence of homologous recombination deficiency (HRD) in
patients with pancreatic ductal adenocarcinoma (PDAC). MATERIALS AND METHODS We …

Importance Hereditary factors play a key role in the risk of developing several cancers.
Identification of a germline predisposition can have important implications for treatment …

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

The frequency of pathogenic/likely pathogenic (P/LP) germ line variants in patients with
myelodysplastic syndrome (MDS) diagnosed at age 40 years or less is 15% to 20 …

Hereditary breast and ovarian cancer syndrome (HBOC) is clinically defined by family
history criteria, and molecularly defined by identification of germline pathogenic variants …

PURPOSE Tumor mutational profiling is increasingly performed in patients with advanced
cancer. We determined the extent to which germline mutation profiling guides therapy …

Purpose Assessing the risk of common, complex diseases requires consideration of clinical
risk factors as well as monogenic and polygenic risks, which in turn may be reflected in …

Genome-wide association studies have identified> 10,000 genetic variants associated with
various phenotypes and diseases. Although the majority are common variants, rare variants …

PURPOSE Genetic testing is important for breast and ovarian cancer risk reduction and
treatment, yet little is known about its evolving use. METHODS SEER records of women of …