Abstract: Disclosed are molecular diagnostic compositions and methods for predicting brain metastasis of breast cancer, as well as methods for drug repositioning to identify existing and new therapeutics for use in developing individualized, patient-specific treatment regimens for improving diagnoses and patient outcomes in individuals at risk for brain metastasis of breast cancer.

Abstract: The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.

Abstract: The invention relates to methods of diagnosing susceptibility to cardiovascular disease, including coronary artery disease. MI, abdominal aorta aneurysm, intracranial aneurysm restenosis and peripheral arterial disease, by assessing the presence or absence of alleles of certain polymorphic markers found to be associated with cardiovascular disease. The invention further relates to kits encompassing reagents for assessing such markers, and methods for assessing the probability of response to therapeutic agents and methods using such markers.

Abstract: The present invention relates to a method of assessing a favorable or, on the contrary, an unfavorable prognosis of a cancer in the subject, which method comprises detecting the presence of a mutated Natural Cytotoxicity-triggering Receptor 3 (NCR3) nucleic acid, an abnormal relative amount of at least one particular Natural Killer p30 (NKp30) RNA transcript isoform, and/or an abnormal Natural Killer p30 (NKp30) expression or activity of at least one particular NKp30 protein isoform in a sample from the subject, the presence of mutated NCR3 nucleic acid, abnormal relative amount of at least one particular NKp30 RNA transcript isoform, or abnormal expression or activity of at least one particular NKp30 protein isoform being indicative of the prognosis of cancer in the subject.

Abstract: Disclosed herein are new prognostic molecular markers for prostate cancer. More specifically, the invention has identified that overexpression or amplification of at least one of AURKA or MYCN define a distinct subgroup of prostate cancer that is predisposed to the development of lethal NEPC, who will benefit from early intervention.

Abstract: Disclosed are methods of determining the prognosis of thymic cancer in a subject comprising detecting a mutation in the general transcription factor IIi (GTF2I) genetic sequence or protein. The presence of a GTF2I mutation indicates that the thymic cancer is indolent.

Abstract: A non-invasive method for the diagnosis of adenocarcinoma or precursor lesions in a female subject and a kit for performing such diagnosis are provided. The method comprises the steps of (1) preparing epithelial cells of a sample of the subject obtained from a rinse of the uterine cavity and, optionally, the fallopian tubes, and (2) performing an analysis of the cells to determine an abnormality associated with ovarian or endometrial cancer, where the abnormality is indicative of adenocarcinoma or a precursor lesion.

Abstract: Disclosed is a method for the diagnosis, and/or the classification, of a hematological disorder, including the steps of: a). measuring, the expression level of at least the genes of a sub-group of 6 genes, b). comparing the expression level of each genes measured in step a)., with the expression level of the same genes in healthy control sample, and c). determining the status of the biological sample.

Abstract: The invention relates to the field of immunology and immunodiagnostics. Provided is a method for determining the replicative history of a lymphocyte, preferably a B cell, the method comprising detecting a signal joint nucleotide sequence on an extrachromosomal circular excision product in the lymphocyte, wherein the excision product is deleted from a chromosome to give a chromosomal-coding joint nucleotide sequence, wherein the coding joint is retained in the chromosome, and detecting the coding joint nucleotide sequence in the lymphocyte. Also provided are primers, probes and a control cell for use in a method of the invention.

Abstract: Disclosed herein are methods and kits for assessing the endometrial receptivity of a patient after controlled ovarian hyperstimulation. More particularly, provided herein is a method for assessing the endometrial receptivity of a patient after controlled ovarian hyperstimulation, comprising a step consisting of measuring the expression level of at least one gene selected from fifteen genes in an endometrial biopsy sample obtained from the patient wherein the genes are FGFBP1, MUC20, TMPRSS3, PRUNE2, HES2, MGST1, ERRFI1, EDN1, SLC17A7, MET, CPT1B, DCDC2, LRRC39, IL18RAP, and FOXP1.

Abstract: The present invention aims at providing a method for assessing risk of hepatocellular carcinoma with high sensitivity and specificity. Extracted were 30 regions containing 45 CpG sites which have DNA methylation levels significantly different between in normal liver tissue samples and in noncancerous liver tissue samples from patients with hepatocellular carcinoma. It was found that the noncancerous liver tissue samples from patients with HCC were able to be assessed for risk of hepatocellular carcinoma by setting cutoff values for distinguishing between the normal liver tissue samples and the noncancerous liver tissue samples from patients with HCC for the extracted 30 regions.

Abstract: The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. The mutations include duplication of exons including duplication of exons 6b through 10. Methods of identifying if an individual contains the exons 6b through 10 duplication are provided as well as nucleic acid fragments that contain the junction site of the duplicated segment. The detection of additional mutations in the CFTR gene are also provided.

Abstract: The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.

Abstract: Methods of tests that assess the expression of DPC4 (SMAD4) to identify subjects with pancreatic cancer that are likely or unlikely to respond to treatment with BTK inhibitors; methods of treating subjects based on identification of the subjects as likely to respond to treatment with BTK inhibitors; therapeutic targets for cancers, particularly cancers with inactivated DPC4 gene or protein; methods of screening of new therapeutic agents using the target; pharmaceutical composition comprising BTK inhibitors, such as PCI-32765 or derivatives thereof, for cancer treatment; and kits that facilitate the performance of the methods are disclosed.

Abstract: The present invention relates to neuropathy, in particular to mutations in the FI G4 gene. The present invention also provides assays for the detection of variant FIG4 alleles, and assays for detecting FIG4 polymorphisms and mutations associated with disease states.

Abstract: The present invention relates to a method for the detection and/or quantification of Streptococcus pneumoniae, a Gram-positive bacteria that is an important human pathogen, in an isolated biological sample, through magneto-amperometric biosensors, comprising detecting fragments of lytA gene of the microorganism, amplified through PCR, preferably asymmetric PCR or direct asymmetric PCR, by hybridization thereof to a specific probe fully complementary to a region of the amplified fragment. Furthermore, the present invention also relates to the use of primers SEQ ID NO: 3 and 4 together with probes SEQ ID NO: 1 and/or SEQ ID NO: 2 to perform the detection. The biosensor developed to detect S. pneumoniae can be applied to different types of clinical samples from patients infected with this bacterium or other related bacteria. Preferably the clinical sample is an isolated biological fluid such as blood, cerebrospinal fluid, saliva or urine.

Abstract: Systems, including apparatus and methods, for synthesis of oligomers in arrays.

Abstract: A method is disclosed for rapid molecular profiling of tissue or other cellular specimens by placing a donor specimen in an assigned location in a recipient array, providing copies of the array, and performing a different biological analysis of each copy. The results of the different biological analyses are compared to determine if there are correlations between the results of the different biological analyses at each assigned location. In some embodiments, the specimens may be tissue specimens from different tumors, which are subjected to multiple parallel molecular (including genetic and immunological) analyses. The results of the parallel analyses are then used to detect common molecular characteristic of the genetic disorder type, which can subsequently be used in the diagnosis or treatment of the disease. The biological characteristics of the tissue can be correlated with clinical or other information, to detect characteristics associated with the tissue.

Abstract: Methods are provided for identifying risk of developing lymphedema, including primary and secondary edema. The methods comprise identifying the presence in a biological sample of a polymorphism in one or more of GJA4, GJA5 and GJC2, resulting in a functional mutation of one or more of connixin 37 (Cx37), Cx40 or Cx47.

Abstract: The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.