نتایج جستجو برای: somatic mutation

تعداد نتایج: 325275  

Journal: :Journal of immunology 2008
Marko Radic

2003

somatic mutation: a mutation in a somatic cell; somatic mutations produce "mosaic" or "chimeric' organisms since they have sectors of cells with different genotypes. In some plants and fungi tissue from the "mutant" sector may be grown into a whole reproducing organism; some of our better apple varieties arose from mutant sectors on a tree. Somatic mutations in animals can lead to cancer when g...

Journal: :Human molecular genetics 2014
David A McDonald Changbin Shi Robert Shenkar Carol J Gallione Amy L Akers Stephanie Li Nicholas De Castro Michel J Berg David L Corcoran Issam A Awad Douglas A Marchuk

Cerebral cavernous malformations (CCMs) are vascular lesions affecting the central nervous system. CCM occurs either sporadically or in an inherited, autosomal dominant manner. Constitutional (germline) mutations in any of three genes, KRIT1, CCM2 and PDCD10, can cause the inherited form. Analysis of CCM lesions from inherited cases revealed biallelic somatic mutations, indicating that CCM foll...

2016
C. Winter M. P. Nilsson E. Olsson A. M. George Y. Chen A. Kvist T. Törngren J. Vallon-Christersson C. Hegardt J. Häkkinen G. Jönsson D. Grabau M. Malmberg U. Kristoffersson M. Rehn S. K. Gruvberger-Saal C. Larsson Å. Borg N. Loman L. H. Saal

BACKGROUND A mutation found in the BRCA1 or BRCA2 gene of a breast tumor could be either germline or somatically acquired. The prevalence of somatic BRCA1/2 mutations and the ratio between somatic and germline BRCA1/2 mutations in unselected breast cancer patients are currently unclear. PATIENTS AND METHODS Paired normal and tumor DNA was analyzed for BRCA1/2 mutations by massively parallel s...

2015
Vivian M. Spaans Marjolijn D. Trietsch Alexander A. W. Peters Michelle Osse Natalja ter Haar Gert J. Fleuren Ekaterina S. Jordanova Eric Asselin

INTRODUCTION Squamous cell carcinoma (SCC), adenocarcinoma (AC), and adenosquamous carcinoma (ASC) are the most common histological subtypes of cervical cancer. Differences in the somatic mutation profiles of these subtypes have been suggested. We investigated the prevalence of somatic hot-spot mutations in three well-defined cohorts of SCC, AC, and ASC and determined the additional value of mu...

Journal: :Tumori 2012
Min Sung Kim Sung Soo Kim Nam Jin Yoo Sug Hyung Lee

AIMS AND BACKGROUND BAX and BAK are both pro-apoptotic Bcl-2 proteins and are essential for the pathway of intrinsic apoptosis. Apoptosis in cancer cells is frequently inactivated by somatic mutations. The aim of the study was to see whether somatic mutations of BAX and BAK genes are characteristics of common human cancers. METHODS We analyzed somatic mutation of BAX and BAK genes in 47 gastr...

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