Results 51 to 60 of about 1,020 (131)

Blurring the Lines: Co‐Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient

Clinical Genetics, Volume 109, Issue 2, Page 363-367, February 2026.
We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya, Yarin Hadid, Ahmad Mahamid, Debora Kidron, Naama Halpern, Adel Shalata, Zohar Levi, Yael Goldberg   +7 more
wiley   +1 more source

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency

Frontiers in Immunology, 2018
Immunoglobulin class-switch recombination (CSR) and somatic hypermutations (SHMs) are prerequisites for antibody and immunoglobulin receptor maturation and adaptive immune diversity.
Victoria K. Tesch, Hanna IJspeert, Andrea Raicht, Daniel Rueda, Nerea Dominguez-Pinilla, Nerea Dominguez-Pinilla, Luis M. Allende, Chrystelle Colas, Thorsten Rosenbaum, Denisa Ilencikova, Hagit N. Baris, Michaela H. M. Nathrath, Michaela H. M. Nathrath, Manon Suerink, Danuta Januszkiewicz-Lewandowska, Iman Ragab, Amedeo A. Azizi, Soeren S. Wenzel, Johannes Zschocke, Wolfgang Schwinger, Matthias Kloor, Claudia Blattmann, Laurence Brugieres, Mirjam van der Burg, Katharina Wimmer, Markus G. Seidel   +25 more
doaj   +1 more source

cIMPACT‐NOW update 11: Proposal on adaptation of diagnostic criteria for IDH‐ and H3‐wildtype diffuse high‐grade gliomas and for posterior fossa ependymal tumors

Brain Pathology, Volume 36, Issue 1, January 2026.
Abstract The Consortium to Inform Molecular and Practical Approaches to Central Nervous System Tumor Taxonomy (cIMPACT‐NOW) updates provide guidelines for the diagnosis of central nervous system (CNS) tumors and suggestions for future World Health Organization (WHO) classification.
Pieter Wesseling, David Capper, Guido Reifenberger, Chitra Sarkar, Cynthia Hawkins, Arie Perry, Bette Kleinschmidt‐DeMasters, Takashi Komori, Werner Paulus, Vani Santosh, Martin van den Bent, Michael Weller, Stefan M. Pfister, Uri Tabori, Dominique Figarella‐Branger, Brent A. Orr, David N. Louis   +16 more
wiley   +1 more source

Diffuse Midline Glioma, H3K27‐Altered With IGF1R Amplification and Global Loss of H3K27me3 Suggesting an Alternative Upstream Driver of PRC2 Dysfunction: A Case Report

Case Reports in Pathology, Volume 2026, Issue 1, 2026.
Background Diffuse midline glioma, H3K27‐altered, is defined by global loss of H3K27me3 resulting from disruption of the polycomb repressive complex 2 (PRC2). Although this epigenetic state is classically driven by H3K27M oncohistone mutations, a histone H3–mutant–negative subset with H3K27me3 loss has been recognized, mediated by alternative ...
Juan Manuel Molina López, Cristina Alenda González, Artemio Payá Romá, Amit Agrawal   +3 more
wiley   +1 more source

Real‐World Molecular Testing in European Early‐Onset Colorectal Cancer

United European Gastroenterology Journal, Volume 13, Issue 10, Page 2012-2022, December 2025.
ABSTRACT Purpose The global incidence and mortality of early‐age onset colorectal cancer (EOCRC, or CRC diagnosed under 50 years) has increased in recent decades. High‐risk surveillance and personalised oncological treatment may improve patients' outcomes.
Penelope V. Edwards, Kussai Giuma Ali Eloussta, Andrew Latchford, Omar Faiz, Huw Thomas, Filomena Liccardo, Nikhil Pawa, Robert Hüneburg, Jacob Nattermann, Andrew George, Francesc Balaguer, Marc Martí, Antonino Spinelli, Caterina Foppa, Noel F. F. C. de Miranda, Irene López, Elena Hurtado, Fernando Jiménez, Marta Jiménez‐Toscano, Edurne Álvaro, Gonzalo Sanz, Araceli Ballestero, José A. Rueda, Cristina Viyuela, Lorena Brandáriz, Rosario Vidal‐Tocino, Damián García‐Olmo, Carlos Pastor, Rogelio González‐Sarmiento, Andreana N. Holowatyj, Terri McVeigh, José Perea, Kevin J. Monahan, On behalf of Collaborators GEOCODE and SECOC Consortia   +33 more
wiley   +1 more source

PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer‐Associated Founder Pathogenic Variant in the French‐Canadian Population of Quebec, Canada

Clinical Genetics, Volume 108, Issue 6, Page 747-751, December 2025.
Using haplotype analysis, we characterized PMS2 c.2117del, identified in 22 families, as a founder variant in the French‐Canadian population of Quebec. It is the most frequent cancer‐associated founder variant in French‐Canadians, with over‐representation in five regions of Quebec. The variant contributed to colorectal and endometrial cancer incidence.
Anne‐Laure Chong, Alejandro Mejia‐Garcia, Supriya Behl, Zaki El Haffaf, Sébastien Chénier, Bruno Maranda, Valérie Désilets, Sébastien Lévesque, Lysanne Castonguay, Anne‐Marie Mes‐Masson, Sylvie Giroux, François Rousseau, Nancy Hamel, George Chong, Simon Gravel, William D. Foulkes   +15 more
wiley   +1 more source

Inherited Susceptibility to Cancer: Past, Present and Future

Annals of Human Genetics, Volume 89, Issue 5, Page 354-365, September 2025.
ABSTRACT Germline pathogenic variants (GPVs, ‘mutations’) causing inherited susceptibility to certain cancers (cancer susceptibility genes, CSGs) broadly belong to one of two main classes—loss of function variants in tumour suppressor genes (TSGs) or gain of function variants in proto‐oncogenes (an over‐simplification).
Shirley V. Hodgson, William D. Foulkes, Eamonn R Maher, Clare Turnbull   +3 more
wiley   +1 more source

Constitutional mismatch repair deficiency syndrome: Clues from the clinic, proof in the genes

Pediatric Hematology Oncology Journal
Background: Constitutional mismatch repair deficiency (CMMRD), a rare autosomal recessive cancer predisposition syndrome, is characterized by neurocutaneous stigmata and early-onset aggressive multisystem malignancies.
Gnanamani Senguttuvan, Jonathan David Livingstone, Pulipati Mercy Kiranmai, Hema N. Srinivasan, Leenu Lizbeth Joseph, Rikki R. John, Leni G. Mathew   +6 more
doaj   +1 more source

Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory

Hereditary Cancer in Clinical Practice, 2018
Background Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad spectrum of syndromic and ...
Sabrina A. Gardner, Katelyn S. Weymouth, Wei S. Kelly, Ekaterina Bogdanova, Wenjie Chen, Daniel Lupu, Joshua Suhl, Qiandong Zeng, Ute Geigenmüller, Debbie Boles, Patricia M. Okamoto, Geraldine McDowell, Melissa A. Hayden, Narasimhan Nagan   +13 more
doaj   +1 more source

The Intersection of Lynch Syndrome and Hematological Malignancies: A Rare Short Report

eJHaem, Volume 6, Issue 4, August 2025.
ABSTRACT Lynch syndrome (LS), which is an autosomal dominant disorder caused primarily by germline pathogenic variants of mismatch repair (MMR) genes, cases a number of malignancies. Hematologic malignancies are not included as related tumors of LS because it has not yet been established whether the carcinogenesis of hematologic malignancies is ...
Tomomi Oka, Takeshi Nakajima, Makoto Iwasaki, June Takeda, Masako Torishima, Maki Sakurada, Takuya Shimizu, Takero Shindo, Masakazu Fujimoto, Shinya Otsuki, Hironori Haga, Kokichi Sugano, Miho Ando, Chisaki Mizumoto, Junya Kanda, Yasuhito Nannya, Seishi Ogawa, Akifumi Takaori‐Kondo, Shinji Kosugi   +18 more
wiley   +1 more source