Results 51 to 60 of about 6,242 (173)

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, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy

Frontiers in Oncology, 2018
Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk.
Piera Rizzolo, Valentina Silvestri, Agostino Bucalo, Veronica Zelli, Virginia Valentini, Irene Catucci, Ines Zanna, Giovanna Masala, Simonetta Bianchi, Alessandro Mauro Spinelli, Stefania Tommasi, Maria Grazia Tibiletti, Antonio Russo, Liliana Varesco, Anna Coppa, Daniele Calistri, Laura Cortesi, Alessandra Viel, Bernardo Bonanni, Jacopo Azzollini, Siranoush Manoukian, Marco Montagna, Paolo Radice, Domenico Palli, Paolo Peterlongo, Laura Ottini   +25 more
doaj   +1 more source

MUTYH (mutY homolog (E. coli)) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on MUTYH (mutY homolog (E. coli)), with data on DNA, on the protein encoded, and where the gene is implicated.
M Genuardi, R Tricarico
openaire   +1 more source

The polymorphic AluYb8 insertion in the MUTYH gene is associated with reduced type 1 protein expression and reduced mitochondrial DNA content. [PDF]

PLoS ONE, 2013
The human mutY homolog (MUTYH) participates in base excision repair (BER), which is critical for repairing oxidized DNA bases and maintaining DNA replication fidelity.
Wenwen Guo, Bixia Zheng, Zhenming Cai, Lizhi Xu, Dong Guo, Lili Cao, Yaping Wang   +6 more
doaj   +1 more source

Consumer Experiences and Perceptions of Genetic Counseling in Provider‐Mediated Genetic Testing

Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.
ABSTRACT Provider‐mediated genetic testing (PM‐GT) is a hybrid model in which consumers initiate testing online, but a physician, typically from a third‐party network, is required to order the test. While genetic counseling is a critical component of result interpretation and medical decision‐making, its integration into PM‐GT remains limited.
Katherine A. Lauro, Bob Wong, Jason Iuliano, Margaret Peo, Jacqueline Park, Karin M. Dent, Angela R. Bradbury, Madison K. Kilbride   +7 more
wiley   +1 more source

MUTYH Cancer‐Associated Variants Within the Interdomain Connector Differentially Impact Glycosylase Activity and Cellular DNA Repair

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, Melody Malek, Savannah G. Conlon, Geoffrey P. Wadey, Carlos H. Trasviña‐Arenas, Sheila S. David   +5 more
wiley   +1 more source

Pediatric Colorectal Cancer in Africa: A Multicenter Study on Epidemiology, Management, and Outcomes Between 2000 and 2023

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, Joyce Balagadde‐Kambugu, Veronica Nyakato, Pamela Mwa, Fadhil Geriga, Barnabas Atwiine, Victoria Mwebe Katasi, Sarra Benmiloud, Laila Hessissen, Imène Chabchoub, Leolin Katsidzira, Eno‐Obong Bassey, Gashaw Arega, Ané Büchner, Jan du Plessis, Mark Siboe, Edrick Elias, Mulingilu Isabel Lumeka, Francine Kouya, Vivian Paintsil, Michelle Obat, Sarah Muma, Olufemi Adefehinti, Adeseye Michael Akinsete, Oluwafunmilayo Toyin Fagbemide, Ndeye Khady Ngom, Sara Marouf, Khaled Seddik, Salah Ahmed, Amany Mohamed Ali, Esraa Abdelkeriem, Reem Ragab, Yomna Mohamed, Moatasem Elayadi, on behalf of SIOP Africa Scientific Committee   +34 more
wiley   +1 more source

MUTYH and KLF6 gene expression fluctuations in tumor tissue and tumor margins tissues of colorectal cancer

Journal of the Egyptian National Cancer Institute, 2022
Background Colorectal cancer (CRC) is one of the most important cancers in the world, and its prevalence varies depending on the geographical area.
Hoora Naebi, Ahmadreza Bandegi, Fereshteh Talebinasab, Pirouz Samidoust, Seyedeh Elham Norollahi, Sogand Vahidi, Ali Akbar Samadani   +6 more
doaj   +1 more source

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, Isabella Gray, Kaylee Ramsey, Joseph McElroy, Emma Schreiner, Jenna Wolfe, Olivia B. Taylor, Frederick Davidorf, Colleen M. Cebulla, Mohamed H. Abdel‐Rahman   +9 more
wiley   +1 more source

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

Nature Communications, 2023
DNA repair defects underlie many cancer syndromes. We tested whether de novo germline mutations (DNMs) are increased in families with germline defects in polymerase proofreading or base excision repair.
Kitty Sherwood, Joseph C. Ward, Ignacio Soriano, Lynn Martin, Archie Campbell, Raheleh Rahbari, Ioannis Kafetzopoulos, Duncan Sproul, Andrew Green, Julian R. Sampson, Alan Donaldson, Kai-Ren Ong, Karl Heinimann, Maartje Nielsen, Huw Thomas, Andrew Latchford, Claire Palles, Ian Tomlinson   +17 more
doaj   +1 more source