Colorectal cancer (CRC) is the fourth most common cancer amongst men and women.
Between 3 and 6% of all CRCs are attributed to well-defined inherited syndromes, including …

Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer
predisposition syndrome caused by biallelic germline mutations in one of four mismatch …

Purpose Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes
MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial …

Background Constitutional mismatch repair deficiency syndrome (CMMRD) is the most
aggressive cancer predisposition syndrome associated with multiorgan cancers, often …

Immunohistochemistry (IHC) and/or MSI-PCR (microsatellite instability-polymerase chain
reaction) tests are performed routinely to detect mismatch repair deficiency (MMR-D) …

PURPOSE Clinical utility of up-front multigene panel testing (MGPT) is directly related to the
frequency of pathogenic variants (PVs) in the population screened and how genetic findings …

Hereditary causes due to mutations and defects in certain genes account for roughly 5% to
10% of all colorectal cancers. These inherited syndromes have been associated with a 60 …

Microsatellite instability (MSI) is an evolving biomarker for cancer detection and treatment.
MSI was first used to identify patients with Lynch syndrome, a hereditary form of colorectal …

Background & Aims Germline variants in mismatch repair genes MLH1, MSH2 (EPCAM),
MSH6, or PMS2 cause Lynch syndrome. Patients with these variants have an increased risk …

Liquid biopsy can provide a strong basis for precision medicine. We aimed to identify novel
single-nucleotide variants (SNVs) in circulating tumor DNA (ctDNA) in patients with …