Results 41 to 50 of about 6,242 (173)

Colorectal Cancer Screening in Hereditary and Familial High‐Risk Populations: Best Practices and Future Directions

International Journal of Cancer, EarlyView.
ABSTRACT Colorectal cancer (CRC) remains a leading cause of cancer‐related morbidity and mortality worldwide yet is largely preventable through effective screening and surveillance. While most CRC cases are sporadic, a substantial proportion occur in individuals at increased risk due to hereditary cancer syndromes or family history who require tailored
Ophir Gilad, Francesc Balaguer, Elizabeth E. Half, Kevin J. Monahan, Elena M. Stoffel, Sonia S. Kupfer   +5 more
wiley   +1 more source

Noncanonical Nucleotides in the Genome Around the Maternal‐Zygotic Transition

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
In this paper, Kazzazi et al. provide a comprehensive review of the dynamics of nonconventional nucleotides in the genome during early developmental stages, hypothesizing a potential role for these nucleotides in the activation of the zygotic genome. ABSTRACT From the very moment of fertilization and throughout development, the cells of animal embryos ...
Latifa Kazzazy, Dávid Mező, Kinga K. Nagy, Viktória Perey‐Simon, Judit Tóth, Angéla Békési, Beáta Vértessy, Máté Varga   +7 more
wiley   +1 more source

Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify

Clinical Journal of Gastroenterology, 2018
MUTYH-associated polyposis (MAP) is a hereditary cancer syndrome that is caused by biallelic pathogenic variants in the MUTYH gene and should be evaluated for in patients with an attenuated colonic polyposis phenotype. Monoallelic pathogenic variants in MUTYH are associated with a moderate increased risk of colorectal cancer but not with the polyposis ...
Trilokesh D. Kidambi, Dena Goldberg, Robert Nussbaum, Amie Blanco, Sarah E. Umetsu, Jonathan P. Terdiman, Jeffrey K. Lee   +6 more
openaire   +5 more sources

Monoallelic deleterious MUTYH mutations generate colorectal cancer: A case report

Clinical Case Reports, 2023
Key clinical message Here we reported a particular case of MUTYH‐associated polyposis (MAP) that had only one rare heterozygous variant, but some particular clinical manifestations contributed to occur in this male patient by only one defective MUTYH ...
Bei Zhao, Wenqi Sun, Yunrong Wang, Xinrong Wu, Yifan Li, Weiwei Wang, Muhan Ni, Peng Yan, Xiaotan Dou, Lei Wang, Min Chen   +10 more
doaj   +1 more source

What Is the Evidence Base Regarding Early Onset Colorectal Cancer in Australia and New Zealand? A Scoping Review

ANZ Journal of Surgery, EarlyView.
ABSTRACT Background Early onset colorectal cancer (EoCRC), commonly defined as colorectal cancer diagnosed in people under 50 years of age, is increasing in incidence in Australia and New Zealand. The underlying cause of this remains unclear, despite its growing public health importance.
Tiffany J. Cherry, Dilshan Udayasiri, Ian P. Hayes   +2 more
wiley   +1 more source

Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report

BMC Medical Genetics, 2011
Background MUTYH-associated polyposis (MAP) is a recessive, hereditary, colorectal cancer-predisposing syndrome caused by biallelic mutations in the MUTYH gene.
de O Ferreira Fábio, Santos Érika MM, Krepischi Ana CV, da Silva Felipe CC, Torrezan Giovana T, Rossi Benedito M, Carraro Dirce M   +6 more
doaj   +1 more source

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source

Somatic Mosaic AXIN2‐associated Colonic Polyposis Predominantly Involving the Proximal Colon: A Case Report

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, Masami Arai, Hidetaka Eguchi, Yuka Hirasawa, Wataru Hata, Yudai Otsuki, Tomonori Yamauchi, Eiji Kamba, Takashi Yao, Akihito Nagahara   +9 more
wiley   +1 more source

Differential Diagnosis of MutYH-Associated Polyposis from Sporadic Colon Polyps

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2019
Aim. In this research, we aim to develop a criterion for differentiating MutYH-associated polyposis from sporadic colon polyps.Materials and methods.
A. S. Tsukanov, V. P. Shubin, A. M. Kuzminov, M. Kh. Toboeva, T. A. Savelyeva, V. N. Kashnikov, Yu. A. Shelygin   +6 more
doaj   +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, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source