Lynch syndrome, which is now recognized as the most common hereditary colorectal cancer
condition, is characterized by the predisposition to a spectrum of cancers, primarily …

Background Tobacco and cannabis are among the most commonly used psychoactive
substances worldwide, and are often used in combination. Evidence suggests that tobacco …

Purpose The aim of this study was to determine the clinical and molecular characteristics of
2,079 patients who underwent hereditary cancer multigene panel testing. Methods Panels …

Simple Summary Microsatellite instability (MSI) is a hallmark of Lynch syndrome (LS)-related
tumors but is not specific, as most of MSI/mismatch repair-deficient (dMMR) tumors are …

Context.—Immunohistochemical expression of mismatch repair (MMR) protein is a well-
accepted method for routine screening for Lynch syndrome with relatively high sensitivity …

Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a
high risk of develo** numerous different cancers, predominantly colorectal cancer and …

Monoallelic PMS2 germline mutations cause 5%–15% of Lynch syndrome, a midlife cancer
predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional …

Heterozygous whole gene deletions (WGDs), and intragenic microdeletions, account for a
significant proportion of mutations underlying cancer predisposition syndromes. We …

Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch
syndrome. The penetrance of the cancer and tumor spectrum has been repeatedly studied …

Targeted next‐generation‐sequencing (NGS) panels have largely replaced Sanger
sequencing in clinical diagnostics. They allow for the detection of copy‐number variations …