Publications by authors named "J P Plazzer"
Article Synopsis
- - Lynch syndrome (LS) is a genetic condition that increases the risk of certain cancers due to defects in DNA mismatch repair genes, and cancer risk estimates based on family history may be biased.
- - A study involving 830 MMR gene variant carriers from the UK Biobank found significantly higher cumulative incidences of colorectal and endometrial cancers by age 70 compared to non-carriers, but no significant difference for breast cancer.
- - The findings suggest that individuals with pathogenic variants in MMR genes should receive surveillance for colorectal cancer and interventions for endometrial cancer risk, while breast cancer does not appear to be linked to LS.
Right-sided colon cancer (RCC) and left-sided colon cancer (LCC) differ in features and outcomes because of variations in embryology, epidemiology, pathology, and prognosis. This study sought to identify significant factors impacting patient survival through Bayesian modelling. Data was retrospectively analysed from a colorectal neoplasia database.
View Article and Find Full Text PDF-associated polyposis (MAP) is an autosomal recessive disorder where the inheritance of constitutional biallelic pathogenic variants predisposes a person to the development of adenomas and colorectal cancer (CRC). It is also associated with extracolonic and extraintestinal manifestations that may overlap with the phenotype of familial adenomatous polyposis (FAP). Currently, there are discrepancies in the literature regarding whether certain phenotypes are truly associated with MAP.
View Article and Find Full Text PDFSMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Hered Cancer Clin Pract
December 2023
Article Synopsis
- Juvenile polyposis syndrome (JPS) affects 1 in 100,000 births and significantly increases cancer risk, primarily due to variants in the SMAD4 and BMPR1A genes.
- Most pathogenic variants in SMAD4 are found in its MH2 domain, which correlates with more severe disease traits, including increased incidence of gastrointestinal (GI) cancers.
- Recommendations include careful surveillance and endoscopic screening for patients with SMAD4-related JPS due to these associations with greater risks of cancer and other complicating conditions.
Article Synopsis
- The Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel (VCEP) was created to improve the interpretation of APC gene variants associated with Familial Adenomatous Polyposis, a common hereditary condition.
- Through analysis and expert input, the panel developed gene-specific modifications to existing variant classification guidelines, piloting these changes on 58 variants.
- The new APC-specific criteria successfully reduced the number of uncertain significance variants and maintained the classification of well-established ones, which will aid future clinical applications.