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A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps.
Clin Genet
January 2025
Department of Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
An increasing number of autosomal recessive forms of adenomatous polyposis have been described, but some in very few cases. Here, we describe a rare case of biallelic germline pathogenic variants in the MLH3 gene, implicating it as a potential cause of early colorectal cancer. The patient, a 47-year-old woman, presented with rectal bleeding, leading to the discovery of a malignant rectal tumor and adenomas during colonoscopy.
View Article and Find Full Text PDFRisk factors and protective measures for desmoid tumours in familial adenomatous polyposis: retrospective cohort study.
BJS Open
December 2024
Unit of Hereditary Digestive Tract Tumours, Fondazione IRCCS Istituto Nazionale dei Tumouri, Milan, Italy.
Background: Familial adenomatous polyposis is a cancer-predisposing syndrome caused by germline pathogenic variants of the adenomatous polyposis coli gene, leading to numerous colorectal polyps and a high risk of colorectal cancer. Desmoid tumours have become significant in the management of familial adenomatous polyposis after a colectomy, yet the exact incidence remains undetermined due to a lack of dedicated surveillance.
Methods: This retrospective study accessed data from the prospectively maintained Hereditary Digestive Tumours Registry from 2000 to 2023.
Prognostic Value of Tumor Regression Grade Combined with Pathological Lymph Node Status in Initially Node-Positive Rectal Cancer Treated with Neoadjuvant Chemoradiotherapy.
J Invest Surg
January 2025
Department of Colorectal Surgery, Fudan University Shanghai Cancer Center, Shanghai, China.
Background: The prognostic value of tumor regression grade (TRG) after neoadjuvant chemoradiotherapy for rectal cancer is inconsistent in the literature. Both TRG and post-therapy lymph node (ypN) status could reflect the efficacy of neoadjuvant therapy. Here, we explored whether TRG combined with ypN status could be a prognostic factor for MRI-based lymph node-positive (cN+) rectal cancer following neoadjuvant chemoradiotherapy.
View Article and Find Full Text PDFColorectal Cancer and Its Microenvironment: A Brief Review.
Med J Islam Repub Iran
September 2024
Department of Oncology, West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan.
Background: The narrative review aims to explore CRC pathogenesis by deciphering genetic-environmental interactions, analyzing the tumor microenvironment's role, and assessing treatment responses. These objectives seek to enhance clinical decision-making and improve CRC patient care through a comprehensive understanding of the disease.
Methods: A narrative review from 2019 to 2024 on colorectal cancer (CRC) pathogenesis and treatment strategies was conducted.
Diet-wide analyses for risk of colorectal cancer: prospective study of 12,251 incident cases among 542,778 women in the UK.
Nat Commun
January 2025
Cancer Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Uncertainty remains regarding the role of diet in colorectal cancer development. We examined associations of 97 dietary factors with colorectal cancer risk in 542,778 Million Women Study participants (12,251 incident cases over 16.6 years), and conducted a targeted genetic analysis in the ColoRectal Transdisciplinary Study, Colon Cancer Family Registry, and Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO).
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