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Comprehensive genetic testing of the breast cancer susceptibility genes BRCA1 and BRCA2 identified approximately 16% of variants of unknown significance (VUS), a significant proportion of which could affect the correct splicing of the genes. Our aim is to establish a workflow for classifying VUS in these complex genes, the first stage of which is splicing(More)
OBJECTIVE We wanted to assess the capability of MRI to quantitatively evaluate the therapeutic response to Crohn's disease (CD) relapse. SUBJECTS AND METHODS Twenty patients with histologically proven CD were prospectively evaluated with MRI and ileocolonoscopy over a 2-year period. The MRI protocol included axial and coronal T2-weighted and(More)
BACKGROUND Accurate evaluation of unclassified sequence variants in cancer predisposition genes is essential for clinical management and depends on a multifactorial analysis of clinical, genetic, pathologic, and bioinformatic variables and assays of transcript length and abundance. The integrity of assay data in turn relies on appropriate assay design,(More)
BACKGROUND AND OBJECTIVES Hepatitis B virus (HBV) has been transmitted by tissue transplantation. In order to reduce the risk of HBV transmission, testing for antibody to HBV core antigen (anti-HBc) is used in addition to testing for hepatitis B surface antigen (HBsAg) in many blood centers and tissue banks. DESIGN AND METHODS We retrospectively analyzed(More)
Genes that, when mutated, cause Fanconi anemia or greatly increase breast cancer risk encode for proteins that converge on a homology-directed DNA damage repair process. Mutations in the SLX4 gene, which encodes for a scaffold protein involved in the repair of interstrand cross-links, have recently been identified in unclassified Fanconi anemia patients. A(More)
Recently, it has been reported that biallelic mutations in the ERCC4 (FANCQ) gene cause Fanconi anemia (FA) subtype FA-Q. To investigate the possible role of ERCC4 in breast and ovarian cancer susceptibility, as occurs with other FA genes, we screened the 11 coding exons and exon-intron boundaries of ERCC4 in 1573 index cases from high-risk Spanish familial(More)
Magnetic resonance cholangiopancreatography (MRCP) is a new noninvasive technique to examine the biliopancreatic tract that have a high diagnostic accuracy. Thus it becomes an appealing modality that can avoid invasive approaches. The purpose of this study was to evaluate the sensitivity and specificity of MRCP in comparison to endoscopic retrograde(More)
Germline inactivating mutations in BRCA1 and BRCA2 genes are responsible for Hereditary Breast and Ovarian Cancer Syndrome (HBOCS). Genetic testing of these genes is available, although approximately 15% of tests identify variants of uncertain significance (VUS). Classification of these variants into pathogenic or non-pathogenic type is an important(More)
Recent developments in the areas of computer communications have enabled the deployment of a wide variety of multimedia applications. Among the various media, video is characterized by its stringent requirements in terms of processing power, storage and bandwidth. In this paper, we undertake the study of a parallel implementation of a software MPEG-2(More)