Results 51 to 60 of about 1,861,621 (385)

RAS mutation status predicts survival and patterns of recurrence in patients undergoing hepatectomy for colorectal liver metastases. [PDF]

, 2013
ObjectiveTo determine the impact of RAS mutation status on survival and patterns of recurrence in patients undergoing curative resection of colorectal liver metastases (CLM) after preoperative modern chemotherapy.BackgroundRAS mutation has been reported ...
Aloia, Thomas A, Andreou, Andreas, Chen, Su S, Curley, Steven A, Kopetz, Scott E, Maru, Dipen M, Shindoh, Junichi, Vauthey, Jean-Nicolas, Zimmitti, Giuseppe   +8 more
core   +1 more source

Gene characteristics predicting missense, nonsense and frameshift mutations in tumor samples

BMC Bioinformatics, 2018
Background Because driver mutations provide selective advantage to the mutant clone, they tend to occur at a higher frequency in tumor samples compared to selectively neutral (passenger) mutations.
Ivan P. Gorlov, Claudio W. Pikielny, Hildreth R. Frost, Stephanie C. Her, Michael D. Cole, Samuel D. Strohbehn, David Wallace-Bradley, Marek Kimmel, Olga Y. Gorlova, Christopher I. Amos   +9 more
doaj   +1 more source

Germline and somatic mtDNA mutations in mouse aging. [PDF]

PLoS ONE, 2018
The accumulation of acquired mitochondrial genome (mtDNA) mutations with aging in somatic cells has been implicated in mitochondrial dysfunction and linked to age-onset diseases in humans.
Hong Ma, Yeonmi Lee, Tomonari Hayama, Crystal Van Dyken, Nuria Marti-Gutierrez, Ying Li, Riffat Ahmed, Amy Koski, Eunju Kang, Hayley Darby, Thanasup Gonmanee, Younjung Park, Don P Wolf, Chong Jai Kim, Shoukhrat Mitalipov   +14 more
doaj   +1 more source

Somatic genetic alterations predict hematological progression in GATA2 deficiency

Haematologica, 2023
Germline GATA2 mutations predispose to myeloid malignancies resulting from the progressive acquisition of additional somatic mutations. Here we describe clinical and biological features of 78 GATA2-deficient patients.
Laetitia Largeaud, Matthew Collin, Nils Monselet, Francois Vergez, Vincent Fregona, Lise Larcher, Pierre Hirsch, Nicolas Duployez, Audrey Bidet, Isabelle Luquet, Jacinta Bustamante, Stephanie Dufrechou, Nais Prade, Marie Nolla, Camille Hamelle, Suzanne Tavitian, Christophe Habib, Mateo Meynier, Christine Bellanne-Chantelot, Jean Donadieu, Flore Sicre de Fontbrune, Claire Fieschi, Alina Ferster, Francois Delhommeau, Eric Delabesse, Marlene Pasquet   +25 more
doaj   +1 more source

Age-related somatic mutation burden in human tissues

Frontiers in Aging, 2022
The genome of multicellular organisms carries the hereditary information necessary for the development of all organs and tissues and to maintain function in adulthood.
Peijun Ren, Xiao Dong, Jan Vijg, Jan Vijg   +3 more
doaj   +1 more source

Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis [PDF]

, 2014
Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes.
Anderson, M, Bailey, P, Barbour, A, Bruxner, T, Campbell, P, Christ, A, Fink, J, Gotley, D, Grimmond, S, Harliwong, I, Hayward, N, Holmes, O, Hussey, D, Idrisoglu, S, Kazakoff, S, Krause, L, Lampe, G, Leonard, C, Loffler, K, Lord, R, Manning, S, Miller, D, Nancarrow, D, Newell, F, Nones, K, Nourbakhsh, E, Nourse, C, Patch, A, Pearson, J, Phillips, W, Quek, K, Quinn, M, Reid, L, Simpson, P, Smithers, B, Tang, Y, Waddell, N, Waddell, N, Watson, D, Wayte, N, Whiteman, D, Wilson, P, Wood, S, Xu, Q   +43 more
core   +4 more sources

Population dynamics of normal human blood inferred from somatic mutations

Nature, 2018
Haematopoietic stem cells drive blood production, but their population size and lifetime dynamics have not been quantified directly in humans. Here we identified 129,582 spontaneous, genome-wide somatic mutations in 140 single-cell-derived haematopoietic
H. Lee-Six, N. Øbro, Mairi S. Shepherd, Sebastian Grossmann, K. Dawson, M. Belmonte, Robert J. Osborne, B. Huntly, I. Martincorena, Elizabeth Anderson, L. O’Neill, M. Stratton, E. Laurenti, A. Green, D. Kent, P. Campbell   +15 more
semanticscholar   +1 more source

Mutations of the BRAF gene in human cancer [PDF]

, 2002
Cancers arise owing to the accumulation of mutations in critical genes that alter normal programmes of cell proliferation, differentiation and death. As the first stage of a systematic genome-wide screen for these genes, we have prioritized for analysis ...
Bignell, G.R., Bigner, D.D., Bottomley, W., Chenevix-Trench, G., Clegg, S., Cooper, C., Cossu, A., Cox, C., Darrow, T.L., Davies, H., Davis, N., Dicks, E., Edkins, S., Ewing, R., Flanagan, A., Floyd, Y., Futreal, P.A., Garnett, M.J., Gray, K., Gusterson, B.A., Hall, S., Hargrave, D., Hawes, R., Ho, J.W.C., Hooper, S., Hughes, J., Jayatilake, H., Kosmidou, V., Leung, S.Y., Maitland, N., Marais, R., Marshall, C.J., Menzies, A., Mould, C., Nicholson, A., Palmieri, G., Parker, A., Paterson, H., Pritchard-Jones, K., Riggins, G.J., Seigler, H.F., Shipley, J., Stephens, P., Stevens, C., Stratton, M.R., Teague, J., Watt, S., Weber, B.L., Wilson, R., Woffendin, H., Wooster, R., Yuen, S.T.   +51 more
core   +1 more source

Site-specific selection reveals selective constraints and functionality of tumor somatic mtDNA mutations. [PDF]

, 2017
BACKGROUND: Previous studies have indicated that tumor mitochondrial DNA (mtDNA) mutations are primarily shaped by relaxed negative selection, which is contradictory to the critical roles of mtDNA mutations in tumorigenesis.
Chen, Cheng, Du, Xiaohong, Guo, Xu, Li, Bingshan, Li, Deyang, Li, Mingkun, Li, Xin, Xing, Jinliang, Yang, Hushan, Yin, Chun, Zhan, Lei   +10 more
core   +2 more sources

Uncovering the profile of somatic mtDNA mutations in Chinese colorectal cancer patients. [PDF]

PLoS ONE, 2011
In the past decade, a high incidence of somatic mitochondrial DNA (mtDNA) mutations has been observed, mostly based on a fraction of the molecule, in various cancerous tissues; nevertheless, some of them were queried due to problems in data quality ...
Cheng-Ye Wang, Hui Li, Xiao-Dan Hao, Jia Liu, Jia-Xin Wang, Wen-Zhi Wang, Qing-Peng Kong, Ya-Ping Zhang   +7 more
doaj   +1 more source