Results 41 to 50 of about 2,323 (154)
DEN Open, Volume 7, Issue 1, April 2027.ABSTRACT Colonic adenomatous polyposis is most commonly caused by germline pathogenic variants in the APC gene; however, recent genetic studies have identified patients without APC mutations. AXIN2‐associated colonic polyposis is a rare condition related to dysregulation of the Wnt/β‐catenin signaling pathway. Most reported cases have involved germline
Takashi Murakami +9 more
wiley +1 more source
The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review
Pediatric Blood &Cancer, Volume 73, Issue 9, September 2026.ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo +5 more
wiley +1 more source
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
wiley +1 more source
Frontiers in OncologyIntroductionThe MUTYH gene encodes a protein involved in DNA repair and is known for MUTYH-associated polyposis (MAP), a rare autosomal recessive condition that predisposes individuals to colorectal cancer (CRC), colorectal polyps and familial colorectal
Mabel Bohórquez-Lozano +13 more
doaj +1 more source
Hereditary colorectal cancer: genetics and screening diagnostics
Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2018 Aim of review. To present the data on main forms of hereditary colorectal cancer (CRC) and to discuss issues of its diagnostics, genetic testing and patient management. Summary.
O. I. Kit +6 more
doaj +1 more source
ChemBioChem, Volume 27, Issue 13, 14 July 2026.Functional analysis of cancer‐associated variants of the DNA repair enzyme MUTYH in the interdomain connector between the 8‐oxoguanine (OG) recognition and base excision domains reveals discordance between in vitro assays and OG:A repair in cells. This disconnect highlights the use of complementary biochemical and cellular assays to accurately classify
Cindy Khuu +5 more
wiley +1 more source
JGH Open, Volume 10, Issue 7, July 2026.ABSTRACT Introduction Colorectal cancer (CRC) is increasing in Africa, yet reports in children and adolescents are limited. We describe the epidemiology, management, and survival outcomes of CRC in African children. Methods Retrospective data of children under 19 years diagnosed with CRC between 2000 and 2023 were collected from 14 African countries ...
Jaques van Heerden +34 more
wiley +1 more source
The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis [PDF]
Gastrointestinal Endoscopy, 2018 Duodenal polyposis and cancer have become a key issue for patients with familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). Almost all patients with FAP will develop duodenal adenomas, and 5% will develop cancer. The incidence of duodenal adenomas in MAP appears to be lower than in FAP, but the limited available data suggest a ...
Joanna J. Hurley +11 more
openaire +5 more sources
Impact of Multigene Panel Testing in High‐Risk Uveal Melanoma Patients
Pigment Cell &Melanoma Research, Volume 39, Issue 4, July 2026.National Comprehensive Cancer Network (NCCN) provides clear criteria for genetic testing among uveal melanoma (UM) patients. However, the efficacy of these guidelines to detect variants in actionable cancer genes has not been evaluated recently. Additionally, comprehensive panel testing has not been broadly standardized across genetic counseling ...
Lindsey Byrne +9 more
wiley +1 more source
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas
The Application of Clinical Genetics, 2023 Lisa Ximena Rodriguez-Rojas,1,2 Estephania Candelo,3,4 Harry Pachajoa,1,2,4 Juan Esteban Garcia-Robledo,3 Jose Antonio Nastasi-Catanese,1,2 Jorge Andres Olave-Rodriguez,2 Angela R Zambrano5 1Department of Human Genetics, Fundación Valle del Lili, Cali ...
Rodriguez-Rojas LX +6 more
doaj