Results 61 to 70 of about 9,868 (158)

Muir-Torre Syndrome: case report and molecular characterization

São Paulo Medical Journal
CONTEXT: Muir-Torre syndrome is a rare autosomal dominant genodermatosis caused by mutations in the mismatch repair genes. It is characterized by the presence of sebaceous skin tumors and internal malignancies, affecting mainly the colon, rectum and ...
Carolina Alejandra Rios, Ricardo Villalon, Jorge Munoz, Monica Acuna, Lucia Cifuentes   +4 more
doaj   +1 more source

Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer [PDF]

, 2004
Hereditary nonpolyposis colorectal cancer (HNPCC) is frequently associated with constitutional mutations in a class of genes involved in DNA mismatch repair.
A Lindblom, A Viel, A Viel, A Viel, C Di Gregorio, C Julian-Reynier, C Lerman, DJ Peel, E Lucci-Cordisco, E Lucci-Cordisco, F Borghi, FM Giardiello, G Ponti, HFA Vasen, HJ Jarvinen, HJ Jarvinen, HT Lynch, HT Lynch, HT Lynch, I Lamberti, JE Garber, JG Park, JMD Wheeler, JP Terdiman, JT Wijnen, L Losi, L Roncucci, LA Aaltonen, LA Aaltonen, M Anti, M Fornasarig, M Genuardi, M Pedroni, M Pedroni, M Ponz de Leon, M Ponz de Leon, M Ponz de Leon, P Benatti, PM Calvert, RJ Black, SC Lee, SN Thibodeau, WH de Vos tot Nederveen Cappel, Y Ionov   +43 more
core   +2 more sources

Microsatellite Instability in the Tumor Microenvironment: The Role of Inflammation and the Microbiome

Cancer Medicine, Volume 14, Issue 8, April 2025.
The microbiome, an environmental factor, can contribute to DNA damage and affect mutation accumulation. Infections with genotoxin‐producing pathobionts can induce inflammation and oxidative stress through reactive nitrogen and oxygen species, which may influence MSI.
Elizabeth Vargas‐Castellanos, Andrés Rincón‐Riveros   +1 more
wiley   +1 more source

Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation

Molecular Genetics &Genomic Medicine, Volume 13, Issue 3, March 2025.
Patients recruited from the oncogenetic department with multiple cancers (348) were more likely to carry pathogenic mutations than those with a single cancer (1422) (27.3% vs. 13.39% p < 0.001). However, if the multiple primary cancers cannot be linked to the same hereditary predisposition syndrome, the prevalence of pathogenic variants is not ...
Mathis Lepage, Nancy Uhrhammer, Ioana Molnar, Maud Privat, Flora Ponelle‐Chachuat, Mathilde Gay‐Bellile, Yannick Bidet, Mathias Cavaillé   +7 more
wiley   +1 more source

Comparative sequencing study of mismatch repair and homology‐directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan

International Journal of Cancer, Volume 156, Issue 4, Page 764-775, 15 February 2025.
What's new? In high‐risk families, endometrial cancer appears to be mainly triggered by pathogenic variants in mismatch repair genes, and breast cancer by pathogenic variants in homology‐directed repair genes. However, the two pathways are not mutually exclusive.
Ying Zheng, Natalia Vdovichenko, Peter Schürmann, Dhanya Ramachandran, Robert Geffers, Lisa‐Marie Speith, Natalia Bogdanova, Julia Enßen, Natalia Dubrowinskaja, Tatyana Yugay, Zura Berkutovna Yessimsiitova, Nurzhan Turmanov, Peter Hillemanns, Thilo Dörk   +13 more
wiley   +1 more source

A dualistic model of primary anal canal adenocarcinoma with distinct cellular origins, etiologies, inflammatory microenvironments and mutational signatures: implications for personalised medicine. [PDF]

, 2018
Primary adenocarcinoma of the anal canal is a rare and aggressive gastrointestinal disease with unclear pathogenesis. Because of its rarity, no clear clinical practice guideline has been defined and a targeted therapeutic armamentarium has yet to be ...
A Purkayastha, A Umar, AA Wright, Alizee Lebeau, Aurelie Poncin, Benjamin Koopmansch, BJ Kocjan, C Martel de, C Mund, Charles M Quick, Christiane Mougin, Christopher P Crum, CS Karapetis, D Leonard, D Meulendijks, David Guenat, Diane Bruyere, DJ Jonker, DK Chan, E Serup-Hansen, EC Pirog, EJ Yang, Elodie Hendrick, F Coppede, Franck Monnien, Frederic Lambert, GJ Chang, H Wang, J Berlin, J Couzin-Frankel, J Mirkovic, JB Carpenter, Jean-Luc Prétet, JM Xu, Karin Segers, Laurence de Leval, Lucine Vuitton, M Basik, M Durst, M Ferrer Marquez, M Herfs, M Herfs, M Herfs, M Herfs, M Herfs, M Lisovsky, M Matsunaga, M Papagikos, M Yamauchi, ME Abel, Michael Herfs, Nathalie Piazzon, O Buhard, O Buhard, Olivier Peulen, P Hubert, Pascale Hubert, Patrick Roncarati, Philippe Delvenne, RD James, S Anwar, S Nagao, S Rajendra, S Valmary-Degano, SE Matlung, Severine Valmary-Degano, T Goto, T Sakamoto, V Heinemann, V Karantza, Vincent Bours, William Penny, Y Belkacemi   +72 more
core   +1 more source

AMIGO2 characterizes cancer‐associated fibroblasts in metastatic colon cancer and induces the release of paracrine active tumorigenic secretomes

The Journal of Pathology, Volume 265, Issue 1, Page 14-25, January 2025.
Abstract Secretomes of cancer‐associated fibroblasts (CAFs) in colorectal cancer (CRC) contribute to malignancy. Detailed knowledge is available on the components and functions of CAF secretomes. Little is known about the regulation of CAF secretomes.
Yongsong Yong, Richard Demmler, Bisan Abdalfatah Zohud, Qi Fang, Tong Zhang, Yonghua Zhou, Katja Petter, Christian Flierl, Tobias Gass, Carol I Geppert, Susanne Merkel, Vera S Schellerer, Elisabeth Naschberger, Michael Stürzl   +13 more
wiley   +1 more source

Lack of microsatellite instability in gastrointestinal stromal tumors [PDF]

, 2017
The microsatellite instability (MSI) phenotype may constitute an important biomarker for patient response to immunotherapy, particularly to anti-programmed death-1 inhibitors. MSI is a type of genomic instability caused by a defect in DNA mismatch repair
Abrahão-Machado, Lucas Faria, Berardinelli, Gustavo N., Campanella, Nathália C., Guimarães, Denise Peixoto, Oliveira, Antônio Talvane Torres, Reis, R. M., Scapulatempo-Neto, Cristovam   +6 more
core   +1 more source

Exploring the Common Mutational Landscape in Cutaneous Melanoma and Pancreatic Cancer

Pigment Cell &Melanoma Research, Volume 38, Issue 1, January 2025.
ABSTRACT Cutaneous melanoma (CM) and pancreatic cancer are aggressive tumors whose incidences are rapidly increasing in the last years. This review aims to provide a complete and update description about mutational landscape in CM and pancreatic cancer, focusing on similarities of these two apparently so different tumors in terms of site, type of cell ...
Elisabetta Broseghini, Federico Venturi, Giulia Veronesi, Biagio Scotti, Marina Migliori, Desy Marini, Claudio Ricci, Riccardo Casadei, Manuela Ferracin, Emi Dika   +9 more
wiley   +1 more source

Approaches for Lynch syndrome screening and characteristics of subtypes with mismatch repair deficiency in patients with colorectal carcinoma

International Journal of Cancer, Volume 155, Issue 10, Page 1780-1791, 15 November 2024.
What's new? Lynch syndrome (LS) detection typically centers on immunohistochemistry (IHC) of mismatch repair proteins, with subsequent detection of MLH1 promoter hypermethylation or BRAF p.V600E. In China, however, BRAF p.V600E incidence is relatively low.
Xu Feng, Qianlan Yao, Yuyin Xu, Jing Zhang, Liqin Jia, Qian Wang, Xu Cai, Ye Xu, Fangqi Liu, Dan Huang, Weiqi Sheng, Qianming Bai, Xiaoli Zhu, Xiaoyan Zhou   +13 more
wiley   +1 more source