منابع مشابه
Classification of BRCA1 missense variants of unknown clinical significance.
BACKGROUND BRCA1 is a tumour suppressor with pleiotropic actions. Germline mutations in BRCA1 are responsible for a large proportion of breast-ovarian cancer families. Several missense variants have been identified throughout the gene but because of lack of information about their impact on the function of BRCA1, predictive testing is not always informative. Classification of missense variants ...
متن کاملThe Clinical Significance of Unknown Sequence Variants in BRCA Genes
Germline mutations in BRCA1/2 genes are responsible for a large proportion of hereditary breast and/or ovarian cancers. Many highly penetrant predisposition alleles have been identified and include frameshift or nonsense mutations that lead to the translation of a truncated protein. Other alleles contain missense mutations, which result in amino acid substitution and intronic variants with spli...
متن کاملThe Gray Zone in Thyroid Nodules: Atypia of Undetermined Significance/Follicular Lesion with Unknown Significance
Major purpose of the management of thyroid nodules is to distinguish between malignant nodules and the benign ones. Nodules with the cytology result Atypia of Undetermined Signifi cance or Follicular Lesion of Undetermined Signifi cance are still a diagnostic challenge. Initial presentation of the Bethesda System was based on 7% diagnosing rate and around 5-15% malignancy rate for these nodules...
متن کاملUnknown Fever
تب پاسخی پیچیده، خودمختار، عصبی و هماهنگ شده است و تقریبا در تمامی حیوانات مهره دار بخشی از واکنش سیستم ایمنی در مراحل حاد به شمار می رود. اگرچه تب در نتیجه عوامل عفونت زا و یا در بیماریهای التهابی غیر عفونی بروز می نماید، معمولا ظهورش مستقل از عامل بوجود آورنده آن رخ می دهد
متن کاملIdiopathic bone marrow dysplasia of unknown significance (IDUS): definition, pathogenesis, follow up, and prognosis.
Minimal diagnostic criteria for myelodysplastic syndromes (MDS) include constant cytopenia recorded for at least 6 months, dysplasia, and exclusion of other causes of cytopenia and dysplasia. However, there are patients with dysplastic bone marrow features with or without a karyotype, who have only mild if any cytopenia. This condition has been termed idiopathic dysplasia of unknown significanc...
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ژورنال
عنوان ژورنال: Science
سال: 2014
ISSN: 0036-8075,1095-9203
DOI: 10.1126/science.346.6214.1167