Publications by authors named "F R Giardiello"

Background: Invasive bacterial biofilms are implicated in colorectal cancer. However, their prevalence on histologically normal tissues and polyps is not well established, and risk factors of biofilms have not been previously investigated. Here we evaluated potential procedural and demographic risk factors associated with biofilm status using a cross-sectional observational cohort.

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Multigene panel testing has allowed for the detection of a growing number of inherited pathogenic/likely pathogenic variants in people at high risk of cancer, including endometrial cancer (EC). Hereditary syndromes associated with EC include Lynch syndrome, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome. This manuscript provides the latest recommendations from the NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric on the screening and management of EC in patients at high risk for these syndromes, as well as the advantages and limitations of multigene panel testing.

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Article Synopsis
  • * These guidelines are designed to support physicians in making informed decisions about CRC screening for patients who do not have specific genetic syndromes.
  • * Recent updates include insights on both primary and secondary CRC prevention, particularly addressing when to start screening for average-risk individuals and those with a relevant personal history of cancer.
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Purpose: Models used to predict the probability of an individual having a pathogenic homozygous or heterozygous variant in a mismatch repair gene, such as MMRpro, are widely used. Recently, MMRpro was updated with new colorectal cancer penetrance estimates. The purpose of this study was to evaluate the predictive performance of MMRpro and other models for individuals with a family history of colorectal cancer.

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The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant.

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