Results 31 to 40 of about 1,861,621 (385)

Sequential and co-occurring DNA damage response genetic mutations impact survival in stage III colorectal cancer patients receiving adjuvant oxaliplatin-based chemotherapy

BMC Cancer, 2021
Background Certain sequences of genomic mutations can lead to cancer formation and affect treatment outcomes and drug resistance. We constructed a cancer evolutionary tree using bulk-targeted deep sequencing to explore the impact of sequential and co ...
Peng-Chan Lin, Yu-Min Yeh, Ren-Hao Chan, Bo-Wen Lin, Po-Chuan Chen, Chien-Chang Pan, Meng-Ru Shen   +6 more
doaj   +1 more source

A pathway-centric survey of somatic mutations in Chinese patients with colorectal carcinomas. [PDF]

PLoS ONE, 2015
Previous genetic studies on colorectal carcinomas (CRC) have identified multiple somatic mutations in four candidate pathways (TGF-β, Wnt, P53 and RTK-RAS pathways) on populations of European ancestry.
Chao Ling, Lin Wang, Zheng Wang, Luming Xu, Lifang Sun, Hui Yang, Wei-Dong Li, Kai Wang   +7 more
doaj   +1 more source

Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism

Frontiers in Endocrinology, 2023
BackgroundPrimary aldosteronism (PA) is the leading cause of curable endocrine hypertension, which is associated with a higher risk of cardiovascular and metabolic insults compared to essential hypertension. Aldosterone-producing adenoma (APA) is a major
Yi-Yao Chang, Yi-Yao Chang, Bo-Ching Lee, Zheng-Wei Chen, Cheng-Hsuan Tsai, Chin-Chen Chang, Che-Wei Liao, Chien-Ting Pan, Kang-Yung Peng, Chia-Hung Chou, Ching-Chu Lu, Vin-Cent Wu, Chi-Sheng Hung, Chi-Sheng Hung, Yen-Hung Lin, Yen-Hung Lin, TAIPAI study group   +16 more
doaj   +1 more source

Assessment of somatic mutations in urine and plasma of Wilms tumor patients

Cancer Medicine, 2020
Tumor DNA has been detected in body fluids of cancer patients. Somatic tumor mutations are being used as biomarkers in body fluids to monitor chemotherapy response as a minimally invasive tool.
Ana Carolina Kerekes Miguez, Bruna D. de Figueiredo Barros, Jorge E. S. deSouza, Cecília Maria L. daCosta, Isabela Werneck Cunha, Paula Nicole Vieira P. Barbosa, Maria Lúcia P. Apezzato, Sandro J. deSouza, Dirce Maria Carraro   +8 more
doaj   +1 more source

COSMIC: the Catalogue Of Somatic Mutations In Cancer

Nucleic Acids Res., 2018
COSMIC, the Catalogue Of Somatic Mutations In Cancer (https://cancer.sanger.ac.uk) is the most detailed and comprehensive resource for exploring the effect of somatic mutations in human cancer.
J. Tate, S. Bamford, Harry C Jubb, Zbyslaw Sondka, D. Beare, Nidhi Bindal, Harry Boutselakis, C. Cole, C. Creatore, E. Dawson, Peter Fish, Bhavana Harsha, Charlie Hathaway, S. Jupe, C. Kok, Kate Noble, Laura Ponting, Chris Ramshaw, Claire E. Rye, H. Speedy, Raymund Stefancsik, Sam L. Thompson, Shicai Wang, Sari Ward, Peter J. Campbell, S. Forbes   +25 more
semanticscholar   +1 more source

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]

, 2013
Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S, Kurzrock, Razelle, Schroeder, Rebecca Dunbar   +2 more
core   +3 more sources

High prevalence of low-allele-fraction somatic mutations in STAT3 in peripheral blood CD8+ cells in multiple sclerosis patients and controls

PLoS ONE, 2022
Somatic mutations have a central role in cancer, but there are also a few rare autoimmune diseases in which somatic mutations play a major role. We have recently shown that nonsynonymous somatic mutations with low allele fractions are preferentially ...
Miko Valori, Joonas Lehikoinen, Lilja Jansson, Jonna Clancy, Sofie A. Lundgren, Satu Mustjoki, Pentti Tienari   +6 more
doaj   +2 more sources

Landscape of somatic mutations in 560 breast cancer whole genome sequences

Nature, 2016
We analysed whole-genome sequences of 560 breast cancers to advance understanding of the driver mutations conferring clonal advantage and the mutational processes generating somatic mutations. We found that 93 protein-coding cancer genes carried probable
S. Nik-Zainal, H. Davies, J. Staaf, Manasa Ramakrishna, D. Głodzik, Xueqing Zou, I. Martincorena, Ludmil B. Alexandrov, Sancha Martin, D. Wedge, P. van Loo, Young Seok Ju, M. Smid, A. Brinkman, S. Morganella, Miriam R. R. Aure, O. Lingjærde, A. Langerød, M. Ringnér, Sung‐Min Ahn, S. Boyault, Jane E. Brock, A. Broeks, A. Butler, C. Desmedt, L. Dirix, S. Dronov, Aquila Fatima, J. Foekens, M. Gerstung, Gerrit K. J. Hooijer, S. J. Jang, David C. Jones, Hyung-Yong Kim, Tari A King, S. Krishnamurthy, Hee Jin Lee, Jeong‐Yeon Lee, Yilong Li, Stuart Mclaren, A. Menzies, Ville Mustonen, S. O’Meara, I. Pauporté, X. Pivot, C. A. Purdie, K. Raine, Kamna Ramakrishnan, F. G. Rodriguez-Gonzalez, G. Romieu, A. Sieuwerts, Peter T. Simpson, Rebecca Shepherd, L. Stebbings, Olafur A. Stefansson, J. Teague, S. Tommasi, I. Treilleux, G. G. Van den Eynden, P. Vermeulen, A. Vincent‐Salomon, L. Yates, C. Caldas, Laura van't Veer, A. Tutt, S. Knappskog, B. Tan, J. Jonkers, Å. Borg, N. Ueno, C. Sotiriou, A. Viari, P. Futreal, Peter J. Campbell, P. Span, S. V. van Laere, Sunil R. Lakhani, J. Eyfjord, Alastair M. Thompson, E. Birney, H. Stunnenberg, M. J. van de Vijver, J. Martens, A. Børresen-Dale, A. Richardson, G. Kong, G. Thomas, Michael R. Stratton   +87 more
semanticscholar   +1 more source

ISOWN: accurate somatic mutation identification in the absence of normal tissue controls. [PDF]

, 2017
BackgroundA key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same donor ...
Bartlett, John MS, Kalatskaya, Irina, McPherson, John D, Spears, Melanie, Stein, Lincoln, Trinh, Quang M   +5 more
core   +1 more source

Clinicoprognostical features of endometrial cancer patients with somatic mtDNA mutations [PDF]

, 2014
Somatic mitochondrial DNA (mtDNA) mutations have been found in a subset of endometrial cancers (EC) from different populations. We have investigated the relationship between mtDNA changes and clinical and pathological variables of women affected by ...
Bartnik, Ewa, Bryk, Jarek, Futyma, Konrad, Lorenc, Anna, Miotla, Pawel, Putowski, Lechoslaw, Semczuk, Andrzej   +6 more
core   +1 more source