Germline alterations in many genes coding for proteins regulating DNA repair and DNA
damage response (DDR) to DNA double-strand breaks (DDSB) have been recognized as …

Purpose Endometrial cancer (EC) is often the sentinel cancer in women with Lynch
syndrome (LS). However, efforts to implement universal LS screening in EC patients have …

The phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a
grouping of related genetic disorders that has been linked to germline mutations in the …

The current understanding of familial colorectal cancer was limited to descriptions of affected
pedigrees until the early 1990s. A series of landscape‐altering discoveries revealed that …

Purpose: The elevated levels of somatic copy-number alterations (SCNAs) in a subset of
high-risk endometrial cancers are suggestive of defects in pathways governing genome …

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 …

Abstract The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer
Clinical Domain Working Group to assemble clinicians, researchers, and molecular …

Lynch syndrome is one of the most common hereditary cancer predisposition syndromes
and is associated with increased risks of colorectal and endometrial cancer, as well as …

Although endometrial cancer management remains challenging, a deeper understanding of
the genetic diversity as well as the drivers of the various pathogenic states of this disease …

Historically, professional society guidelines have recommended limited genetic testing for
hereditary cancer syndromes (HCS) to patients with cancer thought to be at highest risk for …