Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas

Cited by (152)

Items 101–152 of 152

1. Increased KRAS G12C Prevalence, High Tumor Mutational Burden, and Specific Mutational Signatures Are Associated With MUTYH Mutations: A Pan-Cancer Analysis
   Umut Dişel, Smruthy Sivakumar, Timothy V. Pham, Zoë Fleischmann, Anu R I, Ethan S. Sokol, Razelle Kurzrock · 2023 · The Oncologist
2. Scarcity of Recurrent Regulatory Driver Mutations in Colorectal Cancer Revealed by Targeted Deep Sequencing
   Rebecca C. Poulos, D. S. Perera, Deborah Packham, Anushi Shah, Caroline Janitz, John E. Pimanda, Nicholas John Hawkins, Robyn Lynne Ward, Luke B. Hesson, Jason W.H. Wong · 2019 · JNCI Cancer Spectrum
3. Direct Measurement of 8OG Syn-Anti Flips in Mutagenic 8OG·A and Long-Range Damage-Dependent Hoogsteen Breathing Dynamics Using 1H CEST NMR
   Stephanie Gu, Hashim M. Al‐Hashimi · 2024 · The Journal of Physical Chemistry B
4. Germline loss of MBD4 predisposes to leukaemia due to a mutagenic cascade driven by 5mC
   M. Sanders, E. Chew, C. Flensburg, A. Zeilemaker, Sarah E. Miller, A. A. Al Hinai, A. Bajel, Bram Luiken, M. Rijken, Tamara Mclennan et al. · 2017 · bioRxiv
5. Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care
   Richarda M. de Voer, Laura Valle · 2026 · European Journal of Human Genetics
6. Detection and Localization of Solid Tumors Utilizing the Cancer-Type-Specific Mutational Signatures
   Ziyu Wang, Tingting Zhang, Wei Wu, Lingxiang Wu, Jie Li, Bin Huang, Yuan Liang, Yan Li, Pengping Li, Kening Li et al. · 2022 · Frontiers in Bioengineering and Biotechnology
7. Biochemical analysis of H2O2-induced mutation spectra revealed that multiple damages were involved in the mutational process
   Tomohiko Sugiyama, Mahima R. Sanyal · 2023 · DNA repair
8. A pilot study of genomic‐guided induction therapy followed by immunotherapy with difluoromethylornithine maintenance for high‐risk neuroblastoma
   Jacqueline M. Kraveka, Elizabeth C. Lewis, Genevieve Bergendahl, William S. Ferguson, Javier E. Oesterheld, Elizabeth Kim, Abhinav Beeravally Nagulapally, Karl J. Dykema, Valerie I. Brown, William D. Roberts et al. · 2022 · Cancer Reports
9. 8-Oxoguanine: A Lesion, an Epigenetic Mark, or a Molecular Signal?
   Anton V. Endutkin, Antonina P. Dvornikova, Dmitry O. Zharkov · 2025 · International Journal of Molecular Sciences
10. Germline MUTYH Mutation in a Pediatric Cancer Survivor Developing a Secondary Malignancy
    Vincent Lavergne, Amit J. Sabnis, Asmin Tupule, Philip R. Davidson, Cassie Kline, Katherine K. Matthay, Theodore P. Nicolaides, Robert E. Goldsby, Steve E. Braunstein, Shannon E. Fogh et al. · 2019 · Journal of Pediatric Hematology/Oncology
11. GO-система: путь репарации ДНК для борьбы с окислительными повреждениями
    Anton V. Endutkin, Dmitry O. Zharkov · 2021 · Molecular Biology
12. Mono-allelic MUTYH mutation as the likely inherited etiology of hereditary breast cancer in a patient from a multi-cancer family- report of a family and literature review
    Akram Sarmadi, Shaghayegh Haghjooy Javanmard, Mehrdad Zeinalian, Majid Hosseinzadeh, Mohammad Amin Tabatabaiefar · 2025 · BMC Medical Genomics
13. Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types
    Andrew Everall, Avraam Tapinos, Aliah Hawari, Alex J. Cornish, Amit Sud, Daniel Chubb, Ben Kinnersley, Anna Frangou, Miguel Barquín, Josephine Jung et al. · 2026 · Nature Genetics
14. The spectrum of TP53 mutations in Rwandan patients with gastric cancer
    Augustin Nzitakera, Jean Bosco Surwumwe, Ella Larissa Ndoricyimpaye, Schifra Uwamungu, Delphine Uwamariya, Felix Manirakiza, Marie Claire Ndayisaba, Gervais Ntakirutimana, Benoit Seminega, Vincent Dusabejambo et al. · 2024 · Genes and Environment
15. Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers
    Mintao Li, Xuan Gao, Xiang-Chun Lin, Yan Zhang, Wenying Peng, Tao Sun, Yanyan Shi, Yanyan Shi, Yanfang Guan, Xuefeng Xia et al. · 2025 · Cancer Letters
16. Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia
    Claire Palles, Edward Chew, Judith E. Grolleman, Sara Galavotti, Christoffer Flensburg, Erik A. M. Jansen, Helen M. Curley, Laura Chegwidden, Edward H. Arbe-Barnes, Ashish R. Bajel et al. · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
17. Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report
    Maria Cecília Mathias-Machado, Renata D’Alpino Peixoto, Patrícia Ashton‐Prolla, Leonard Medeiros Da Silva, Rodrigo Dienstmann · 2023 · Case Reports in Oncology
18. ‘You cannot expect miracles to happen overnight’: patience pays off when you wish to establish a new adrenocortical carcinoma cell line
    Enzo Lalli · 2021 · European Journal of Endocrinology
19. Mutational Signature in Cancers Following Solid Organ or Allogeneic Stem Cell Transplantation
    Igor Odintsov, Stephanie Siegmund, Navin R. Mahadevan, Alanna J. Church, Lynette Marie Sholl, Jonathan Andrew Nowak · 2025 · Modern Pathology
20. Integration of multi-omics data uncovers novel germline susceptibility candidates in early-onset colorectal cancer
    Anael López‐Novo, Jorge Amigo, Andrés Dacal, David Remedios, Joaquín Cubiella, María Victoria Álvarez-Sánchez, María Jesús Ladra-González, Fernando Fernández‐López, Ana Álvarez-Castro, Silvia Carlés et al. · 2026 · European Journal of Human Genetics
21. Pancreatic Neuroendocrine Tumor: The Case Report of a Patient with Germline FANCD2 Mutation and Tumor Analysis Using Single-Cell RNA Sequencing
    Ekaterina S. Avsievich, Diana A. Salimgereeva, Alesia Maluchenko, Zoya Antysheva, Mark V. Voloshin, Ilia Yu. Feidorov, Olga Glazova, Ivan S. Abramov, Denis O. Maksimov, Samira Kaziakhmedova et al. · 2024 · Journal of Clinical Medicine
22. Diet-Modifiable Redox Alterations in Ageing and Cancer
    Christopher Hine, Anand Kumar Patel, András K. Ponti · 2024 · Sub-cellular biochemistry/Subcellular biochemistry
23. Adenomatous Polyposis Syndromes: MUTYH-Associated Polyposis
    Maartje Nielsen, Stephan Aretz · 2018 · Springer eBooks
24. Incident Cancer Risk and Signatures Among Older MUTYH Carriers: Analysis of Population-Based and Genomic Cohorts
    Jonathan M. Downie, Moeen Riaz, Jing Xie, Minyi Lee, Andrew Tan Chan, Peter Gibbs, Suzanne Gaye Orchard, Suzanne E. Mahady, Robert Sebra, Anne M. Murray et al. · 2022 · Cancer Prevention Research
25. Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-Tumor Phenotype Including a Predisposition to Colon and Breast Cancer
    Judith E. Grolleman, Richarda M. de Voer, Fadwa A. Elsayed, Maartje Nielsen, Robbert D.A. Weren, Claire Palles, Marjolijn J. L. Ligtenberg, Janet R. Vos, Sanne W. ten Broeke, Noel F.C.C. de Miranda et al. · 2018 · SSRN Electronic Journal
26. Epistasis between mutator alleles contributes to germline mutation rate variability in laboratory mice
    Thomas A. Sasani, Aaron R. Quinlan, Kelley Harris · 2023
27. In search of non-coding driver mutations by deep sequencing of regulatory elements in colorectal cancer
    Rebecca C. Poulos, Dilmi Perera, Deborah Packham, Anushi Shah, Caroline Janitz, John E. Pimanda, Nicholas John Hawkins, Robyn Lynne Ward, Luke B. Hesson, Jason W.H. Wong · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
28. Faculty Opinions recommendation of Colorectal cancer mutational profiles correlate with defined microbial communities in the tumor microenvironment.
    Vassiliki Liana Tsikitis · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
29. Adrenocortical Carcinoma: Genetics and Molecular Markers
    Anne Jouinot, Guillaume Assié · 2018 · Elsevier eBooks
30. Mutational Signatures in Solid Tumors
    Elizabeth S. Barrie, Hannah Wollenzien · 2023 · Advances in Molecular Pathology
31. Molecular Pathology of Endocrine Tumors
    Lori A. Erickson · 2023 · Springer eBooks
32. Hereditary Predisposition to Adrenal Cortical Lesions
    2024 · American Registry of PathologyArlington, Virginia eBooks
33. A Novel Germline MUTYH Mutation (p.W156∗) in High‐Grade Astrocytoma, IDH Mutant
    Lulu Zhang, Shaoyan Xi, Lei Yuan, Ziteng Li, Xiaoyun Liu, Jiamei Gu, Shuo Li, Liyun Huang, Wanming Hu, Lingyi Fu · 2025 · Human Mutation
34. Germline haploinsufficiency for the base excision repair gene MUTYH causes mutational signature SBS18 in multiple tumour types, specifically leading to an increased risk of colorectal cancer
    Kitty Sherwood, Juan J. Fernandez-Tajes, Güler Gül, S. Thorn, Joseph C. Ward, James F. Wilson, Claire Palles, David Timothy Bishop, Richard S. Houlston, Malcolm G. Dunlop et al. · 2025 · medRxiv
35. Additional file 2 of Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy
    Sandra Brosda, Lauren G. Aoude, Vanessa Bonazzi, Kalpana Patel, James M. Lonie, Clemence J. Belle, Felicity Newell, Lambros T. Koufariotis, Venkateswar Addala, Naeini, Marjan M. et al. · 2024 · Figshare
36. Additional file 1 of Molecular-guided therapy for the treatment of patients with relapsed and refractory childhood cancers: a Beat Childhood Cancer Research Consortium trial
    Sholler, Giselle L. Saulnier, Genevieve Bergendahl, Elizabeth C. Lewis, Jacqueline M. Kraveka, William S. Ferguson, Abhinav Beeravally Nagulapally, Karl J. Dykema, Valerie I. Brown, Michael S. Isakoff, Joseph J. Junewick et al. · 2024 · Figshare
37. Additional file 1 of Novel temporal and spatial patterns of metastatic colonization from breast cancer rapid-autopsy tumor biopsies
    Huang, Xiaomeng, Qiao, Yi, Brady, Samuel W., Factor, Rachel E., Downs-Kelly, Erinn, Farrell, Andrew, Jasmine A. McQuerry, Gajendra Shrestha, David F. Jenkins, Johnson, W. Evan et al. · 2021 · Figshare
38. Additional file 3 of Novel temporal and spatial patterns of metastatic colonization from breast cancer rapid-autopsy tumor biopsies
    Huang, Xiaomeng, Qiao, Yi, Brady, Samuel W., Factor, Rachel E., Downs-Kelly, Erinn, Farrell, Andrew, Jasmine A. McQuerry, Gajendra Shrestha, David F. Jenkins, Johnson, W. Evan et al. · 2021 · Figshare
39. Additional file 1 of Spatial intra-tumour heterogeneity and treatment-induced genomic evolution in oesophageal adenocarcinoma: implications for prognosis and therapy
    Sandra Brosda, Lauren G. Aoude, Vanessa Bonazzi, Kalpana Patel, James M. Lonie, Clemence J. Belle, Felicity Newell, Lambros T. Koufariotis, Venkateswar Addala, Naeini, Marjan M. et al. · 2024 · Figshare
40. DNA damage reflected in the evolution of G-runs in genomes
    Инга Ростиславовна Грин, D. O. Zharkov · 2025 · Vavilov Journal of Genetics and Breeding
41. The interplay between dormant mutated cells and tumor promotion by chronic tissue damage in determining cancer risk
    Yun Rose Li, Eve E. Kandyba, Kyle D. Halliwill, Reyno Delrosario, Quan Tran, Nora Bayani, Di Wu, Olga K. Mirzoeva, Melissa McCreery Reeves, Mishu Islam et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
42. SigFormer: an Attention-Based Framework for Robust Single-Sample Mutational Signature Decomposition
    Zhang Yang, Muchun Niu, Chenghang Chuck Zong · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
43. Toward identification of common DNA repair process in mutational signatures
    Damian Wójtowicz, Marcin Wierzbiński, Jan Hoinka, Roded Sharan, Teresa M. Przytycka · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
44. Adrenocortical carcinoma: Genetics and molecular markers
    Antoan Stefan Šojat, Anne Jouinot, Guillaume Assié · 2026 · Elsevier eBooks
45. Genome-wide modeling of mutation spectra of human cancer-risk agents using experimental systems
    Maria Zhivagui · 2017
46. Detection and identification of papillomavirus sequences in NGS data of human DNA samples : a bioinformatic approach
    Alexis Robitaille · 2019 · theses.fr (ABES)
47. Marqueurs moléculaires ciblés pour le pronostic et le traitement des corticosurrénalomes : de la génomique à la médecine personnalisée
    Anne Jouinot · 2020
48. Global Geo-Pharmacogenomics: Environmental Mutational Signatures Drive Population-Level Heterogeneity in Anticancer Drug Response
    Janiel Jawahar, Samuel James · 2026 · Journal of Xenobiotics
49. Biochemical, Structural and Mutational Landscapes of Base Excision Repair Enzymes and Cancer: From Atomic Resolution to Tumor Signatures
    Simone D. Hall, Cameron Cordero, Mohammad Hashemian, Marcos B Ngo, Sheila S. David, Steven A. Roberts, J. Sweasy, S. Doublié · 2026 · International Journal of Radiation Biology
50. Mutagenic bypass of uracil-derived abasic sites underlies the SBS17 mutational signature
    Stefania Di Ciccio, Joeri van Strien, Yang Jiang, Ammal Abbasi, Linda V. Bakker, Naomi Weertman, Laurynas Leiteris, Jeroen Willems, Ludmil B. Alexandrov, Juan I. Garaycoechea · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
51. Randomization of the Damaged Base-Capping Loop Rewires Substrate Specificity in Formamidopyrimidine–DNA Glycosylase
    Nikita A. Bulgakov, Margarita M. Amanova, Anton V. Endutkin, Kristina A. Makasheva, F Coste, B. Castaing, Victor M. Golyshev, Alexander A. Lomzov, Anna V. Yudkina, Dmitry O. Zharkov · 2026 · Biochemistry
52. Delocalized DNA holes imprint mutation position in mismatch-repair-deficient cancers
    Ji‐Yong Sung, Jae‐Ho Cheong · 2026 · bioRxiv (Cold Spring Harbor Laboratory)