Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?
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چکیده
منابع مشابه
Staphylococcus lugdunensis; a pathogen that should be considered in Iran
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Here, we describe a patient with bilateral breast cancer and melanoma, and with a concomitant double variant, namely p.Gln563Ter in BRCA1 and p.Lys3326Ter in BRCA2. The BRCA2 p.Lys3326Ter (K3326X) (rs11571833) mutation identified in our patient is a debated substitution of thymidine for adenine which is currently regarded as benign polymorphism in main gene databases. Recent studies, however, d...
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Resistin (RETN), recently found to be relevant to inflammation and inflammatory disorders. We, therefore, aimed to investigate the potential role of RETN gene polymorphism in pathogenesis of acne vulgaris with familial history. We investigated the RETN-420C/G polymorphism in 180 patients with acne vulgaris and 180 healthy individuals in a case-control association analysis. In this study, we als...
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Objective: This article presents an application of cluster analysis for social sciences researches especially those studies that have an interview as part of their data collection. This application is more suitable for sequential mixed method researchers who use quantitative data to frame subsequent qualitative subsamples for conducting interviews. Methods: In more detail, the algorithm (i....
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As more countries adopt laws and regulations concerning euthanasia, pediatric euthanasia has become an important topic of discussion. Conceptions of what constitutes harm to patients are fluid and highly dependent on a myriad of factors including, but not limited to, health care ethics, family values, and cultural context. Euthanasia could be viewed as iatrogenic insofar as it results in an out...
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ژورنال
عنوان ژورنال: Cancer
سال: 2014
ISSN: 0008-543X
DOI: 10.1002/cncr.28605