نتایج جستجو برای: somatic mutation

تعداد نتایج: 325275  

2016
Kyungsik Ha Hong-Gee Kim Hwajin Lee

7 * Co-corresponding authors 8 9 10 Accumulation of somatic mutations over time leads to tissue abnormalities, such as cancer. 11 Somatic mutation rates vary across the genome in a cell-type specific manner, depending on 12 the types of mutation processes 1-7. Although recent studies have identified several 13 determinants relevant to the establishment of the cancer mutation landscape 8-13 , th...

Journal: :The Journal of Experimental Medicine 1992
J Cai C Humphries A Richardson P W Tucker

B cell chronic lymphocytic leukemia (CLL) is the malignant, monoclonal equivalent of a human CD5+ B cell. Previous studies have shown that the VH and VL genes rearranged and/or expressed in CLL have few and apparently random mutations. However, in this study, we have found that the rearranged VH251 gene, one of the three-membered VH5 family, has extensive and selective mutations in B-CLL cells....

Journal: :Environmental Health Perspectives 1991
W A Anwar

Somatic mutation plays a critical role in carcinogenesis. Numerous environmental agents can increase the probability that somatic mutation will occur. The use of genotoxicity testing is essential for assessing potential human toxicity so that hazards can be prevented. Cytogenetic monitoring of human populations exposed to chemicals has proved to be a useful tool for detecting the chemical mutag...

2013
Yu-Waye Chu Elides Marin Ramsay Fuleihan Narayanaswamy Ramesh

Somatic mutation of Ig variable regions occurs prominently in germinal centers, but it has been debated whether the mutation process initiates in germinal centers or is activated before germinal center entry of B cells. We have analyzed for the presence of somatic mutation in Ig gene rearrangements of the nonpolymorphic human VH6 gene in the X-linked HyperIgM syndrome, which is associated with ...

2016
Serena Nik-Zainal Helen Davies Johan Staaf Manasa Ramakrishna Dominik Glodzik Xueqing Zou Inigo Martincorena Ludmil B. Alexandrov Sancha Martin David C. Wedge Peter Van Loo Young Seok Ju Marcel Smid Arie B Brinkman Sandro Morganella Miriam R. Aure Ole Christian Lingjærde Anita Langerød Markus Ringnér Sung-Min Ahn Sandrine Boyault Jane E. Brock Annegien Broeks Adam Butler Christine Desmedt Luc Dirix Serge Dronov Aquila Fatima John A. Foekens Moritz Gerstung Gerrit KJ Hooijer Se Jin Jang David R. Jones Hyung-Yong Kim Tari A. King Savitri Krishnamurthy Hee Jin Lee Jeong-Yeon Lee Yilong Li Stuart McLaren Andrew Menzies Ville Mustonen Sarah O’Meara Iris Pauporté Xavier Pivot Colin A. Purdie Keiran Raine Kamna Ramakrishnan F. Germán Rodríguez-González Gilles Romieu Anieta M. Sieuwerts Peter T Simpson Rebecca Shepherd Lucy Stebbings Olafur A Stefansson Jon Teague Stefania Tommasi Isabelle Treilleux Gert G. Van den Eynden Peter Vermeulen Anne Vincent-Salomon Lucy Yates Carlos Caldas Laura van’t Veer Andrew Tutt Stian Knappskog Benita Kiat Tee Tan Jos Jonkers Åke Borg Naoto T Ueno Christos Sotiriou Alain Viari P. Andrew Futreal Peter J Campbell Paul N. Span Steven Van Laere Sunil R Lakhani Jorunn E. Eyfjord Alastair M. Thompson Ewan Birney Hendrik G Stunnenberg Marc J van de Vijver John W.M. Martens Anne-Lise Børresen-Dale Andrea L. Richardson Gu Kong Gilles Thomas Michael R. Stratton

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 driver mutations. Some non-coding regions exhibited high mutation frequencies, but most have distinctive structural features probably causing ...

2017
Rebecca F Lowdon Ting Wang

Evidence that noncoding mutation can result in cancer driver events is mounting. However, it is more difficult to assign molecular biological consequences to noncoding mutations than to coding mutations, and a typical cancer genome contains many more noncoding mutations than protein-coding mutations. Accordingly, parsing functional noncoding mutation signal from noise remains an important chall...

2016
Yuri Uchiyama Mitsuko Nakashima Satoshi Watanabe Masakazu Miyajima Masataka Taguri Satoko Miyatake Noriko Miyake Hirotomo Saitsu Hiroyuki Mishima Akira Kinoshita Hajime Arai Ko–ichiro Yoshiura Naomichi Matsumoto

Droplet digital PCR (ddPCR), a method for measuring target nucleic acid sequence quantity, is useful for determining somatic mutation rates using TaqMan probes. In this study, the detection limit of copy numbers of test DNA by ddPCR was determined based on Poisson distribution. Peptide nucleic acid (PNA), which strongly hybridises to target lesions, can inhibit target amplification by PCR. Ther...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2014
Carla Guarinos Miriam Juárez Cecilia Egoavil María Rodríguez-Soler Lucía Pérez-Carbonell Ramón Salas Joaquín Cubiella Francisco Rodríguez-Moranta Luisa de-Castro Luis Bujanda Anna Serradesanferm David Nicolás-Pérez Maite Herráiz Fernando Fernández-Bañares Alberto Herreros-de-Tejada Elena Aguirre Judith Balmaña María-Luisa Rincón Angeles Pizarro Francisco Polo-Ortiz Adela Castillejo Cristina Alenda Artemio Payá José-Luis Soto Rodrigo Jover

PURPOSE The present study aimed to determine the prevalence of MUTYH mutations in patients with multiple colonic polyps and to explore the best strategy for diagnosing MUTYH-associated polyposis (MAP) in these patients. EXPERIMENTAL DESIGN This study included 405 patients with at least 10 colonic polyps each. All cases were genetically tested for the three most frequent MUTYH mutations. Whole...

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