Mutational landscape of normal epithelial cells in Lynch Syndrome patients

Autor: Bernard C. H. Lee, Philip S. Robinson, Tim H. H. Coorens, Helen H. N. Yan, Sigurgeir Olafsson, Henry Lee-Six, Mathijs A. Sanders, Hoi Cheong Siu, James Hewinson, Sarah S. K. Yue, Wai Yin Tsui, Annie S. Y. Chan, Anthony K. W. Chan, Siu Lun Ho, Peter J. Campbell, Inigo Martincorena, Simon J. A. Buczacki, Siu Tsan Yuen, Suet Yi Leung, Michael R. Stratton

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)

It is unclear whether somatic mutation rates are elevated in Lynch Syndrome (LS), which is the most common cause of hereditary colorectal cancer. Here, the authors use whole-genome sequencing and organoid cultures to show that normal tissues in LS pa

Externí odkaz: https://doaj.org/article/9ffe8e161f6f47b6ae292571819e0a78

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma

Autor: Mamunur Rashid, Michiel van der Horst, Thomas Mentzel, Francesca Butera, Ingrid Ferreira, Alena Pance, Arno Rütten, Bostjan Luzar, Zlatko Marusic, Nicolas de Saint Aubain, Jennifer S. Ko, Steven D. Billings, Sofia Chen, Marie Abi Daoud, James Hewinson, Sandra Louzada, Paul W. Harms, Guia Cerretelli, Carla Daniela Robles-Espinoza, Rajiv M. Patel, Louise van der Weyden, Chris Bakal, Jason L. Hornick, Mark J. Arends, Thomas Brenn, David J. Adams

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)

Spiradenoma and cylindroma are skin adnexal tumors that can behave aggressively and undergo malignant transformation. Here, the authors genetically assess a cohort of these adnexal tumours, highlighting recurrent ALPK1 mutations and revealing the gen

Externí odkaz: https://doaj.org/article/8cf5f1bae6714e01b43eb450dac4bb01

Data from Mutational Analysis Identifies Therapeutic Biomarkers in Inflammatory Bowel Disease–Associated Colorectal Cancers

Autor: Mark J. Arends, David J. Adams, Jack Satsangi, Mamunar Rashid, Roy Rabbie, Alejandro Jiménez-Sánchez, Martin L. Miller, Catherine J. Black, James Hewinson, Anca Oniscu, Mike F. Mueller, Kim Wong, Shahida Din

Purpose: Inflammatory bowel disease–associated colorectal cancers (IBD-CRC) are associated with a higher mortality than sporadic colorectal cancers. The poorly defined molecular pathogenesis of IBD-CRCs limits development of effective prevention, d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bc548ceeeb0f03ab0698a7511e10af9
https://doi.org/10.1158/1078-0432.c.6529113

Increased somatic mutation burdens in normal human cells due to defective DNA polymerases

Autor: Sigurgeir Olafsson, Inigo Martincorena, Bernard C H Lee, Sara Galavotti, Philip S. Robinson, Federico Abascal, Lynn Martin, Michael R. Stratton, Claire Palles, Raheleh Rahbari, James Hewinson, Andrew R. J. Lawson, Luiza Moore, Mathijs A. Sanders, Ian Tomlinson, Emily Mitchell, Tim H. H. Coorens, Peter J. Campbell, Henry Lee-Six, Claudia Maria Assunta Pinna

Publikováno v: Nature Genetics
Nature Genetics, 53(10), 1434-1442. Nature Publishing Group
Robinson, P, H. Coorens, T H, Palles, C, Mitchell, E, Abascal, F, Olafsson, S, Lee, B, Lawson, A, Lee-Six, H, Moore, L, A. Sanders, M, Hewinson, J, J. Campbell, P, Martincorena, I, Tomlinson, I P M & Stratton, M 2021, ' Increased somatic mutation burdens in normal human cells due to defective DNA polymerases ', Nature Genetics . https://doi.org/10.1038/s41588-021-00930-y

Funder: Wellcome Clinical PhD fellowship
Funder: Wellcome PhD Studentship
Funder: Jean Shank/Pathological Society Intermediate Fellowship
Mutation accumulation in somatic cells contributes to cancer development and is proposed as a cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22cab3cc27211c82c6f6f1912a75f1e
http://europepmc.org/articles/PMC8492474

Population-based analysis of

Autor: Irving, Simonin-Wilmer, Raul, Ossio, Emmett M, Leddin, Mark, Harland, Karen A, Pooley, Mauricio Gerardo, Martil de la Garza, Sofia, Obolenski, James, Hewinson, Chi C, Wong, Vivek, Iyer, John C, Taylor, Julia A, Newton-Bishop, D Timothy, Bishop, Gerardo Andrés, Cisneros, Mark M, Iles, David J, Adams, Carla Daniela, Robles-Espinoza

Publikováno v: Journal of medical genetics.

Pathogenic germline variants in the protection of telomeres 1 gene (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::64c3cf9fc9ad536181698f23c89b8e0c
https://pubmed.ncbi.nlm.nih.gov/36539277