Abstract: The present invention provides methods, kits, and compositions for detecting mutations in transient receptor potential cation channel, subfamily V, member 4 (TRPV4). In particular, mutations are detected in TRPV4 to detect diseases such as scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC) or Charcot-Marie-Tooth disease type 2C (CMT2C).

Abstract: Disclosed are methods for assessing the methylation and mutation status of nucleic acid in a sample. The methods provide for methylation-dependent modification of the nucleic acid in a sample, and subsequently nucleic acid amplification processes to distinguish between mutated and non-mutated target sequence.

Abstract: The present invention is directed to an in vitro method of detecting cell free nucleic acids, preferably cell free DNA (cfDNA) in a body fluid sample from an individual or a patient, wherein the method comprises the step of accurately and sensitively determining the concentration of cell free nucleic acid in the sample and/or determining the concentration or amount of said cell free nucleic acid of a size range and/or the index of integrity or size fraction ratio (SFR) of said cell free nucleic acid and/or the determination of the presence of genetic polymorphisms (such as known Single Nucleotide Polymorphisms (SNPs) or mutations). The invention encompasses also a method to discriminate body fluid individuals where cfDNA are highly released by comparing the size profile obtained for at least one of three size ranges of cfDNA.

Abstract: Disclosed are methods of predicting the development of medically refractory ulcerative colitis (MR-UC) in a patient In one embodiment, disclosed is a method of prognosing ulcerative colitis in an individual by determining the presence or absence of one or more risk variants, where the presence of one or more risk variants is indicative of a severe and/or aggressive form of ulcerative colitis. In another embodiment, the severe form of ulcerative colitis is indicative of MR-UC.

Abstract: The invention provides a method of diagnosing a disease or a predisposition to contract a disease by assaying for mutations of uromodulin (UMOD) within a test subject or patient. The presence of a mutation in the UMOD supports a diagnosis of a disease or a predisposition to contract a disease within the patient.

Abstract: The present disclosure relates to systems and methods for analyzing chromosomal translocations, and in particular to analysis of chromosomal translocation by in situ hybridization.

Abstract: The present invention relates, in general, to a prostate-specific antigen, PCA3. In particular, the present invention relates to nucleic acid molecules coding for the PCA3 protein; purified PCA3 proteins and polypeptides; recombinant nucleic acid molecules; cells containing the recombinant nucleic acid molecules; antibodies having binding affinity specifically to PCA3 proteins and polypeptides; hybridomas containing the antibodies; nucleic acid probes for the detection of nucleic acids encoding PCA3 proteins; a method of detecting nucleic acids encoding PCA3 proteins or polypeptides in a sample; kits containing nucleic acid probes or antibodies; bioassays using the nucleic acid sequence, protein or antibodies of this invention to diagnose, assess, or prognose a mammal afflicted with prostate cancer; therapeutic uses; and methods of preventing prostate cancer in an animal.

Abstract: Methods are provided of treating a human for cancer comprising administering at least one dose of lapatinib, or a pharmaceutically acceptable salt or composition thereof, to a patient, wherein said patient does not have one or more allelic polymorphisms selected from the group of: HLA-DQA1*0201, HLA-DQB1*0202, and HLADRB1*0701. Patients may also be free of genotypes in TNXB; rs12153855 and/or rs17207923.

Abstract: The present invention is a gene expression panel of chemotherapeutic drug-resistant cancer stem cells comprising RIN1, SOX15 and TLR4. In one embodiment the cancer stem cells are testicular cancer germ cells. The present invention provides for a kit and method for determining response to treatment with decitabine at low doses.

Abstract: Provided is a method for determining the presence or absence of an individual's DNA in a sample containing DNA from two or more contributors. A panel of a plurality of single nucleotide polymorphisms (SNPs) is used. For each SNP in the panel, it is determined whether the minor allele of the SNP is present in the sample, and whether the minor allele is present in the individual's DNA. If the number of minor alleles that are present in the individual's DNA that are also present in the DNA sample is above a predetermined threshold, the individual's DNA is concluded to be present in the sample. Also provided is an array of DNA molecules for use in the method, as well as a method for estimating the number of individuals contributing to a DNA containing sample.

Abstract: The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital PCR is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.

Abstract: The present invention provides methods and kits that may be used to detect and quantify the presence of Coccidioides species. The methods include quantification real-time PCR assays, and the kits and compositions include oligonucleotides used as primers and probes.

Abstract: The present invention relates to means and methods for the identification of non-responders to a HER2 inhibitor, whereby one or more mutations in exon 9 of Phosphoinositol-3 kinase (PIK3CA) indicate non-responsiveness.

Abstract: Methods of detecting lung cancer, such as non-small cell lung cancer, including squamous cell carcinoma and adenocarcinoma, are provided. Methods of detecting changes in the levels of one or more small RNAs associated with lung cancer are also provided. Compositions and kits are also provided.

Abstract: The invention encompasses molecular beacon (MB) probes for monitoring the presence of human breast cancer biomarkers and for the analysis of breast cancer metastasis. The molecular beacon is an oligonucleotide probe which sensitively and specifically identifies biomarker mRNA in samples, in the presence of serum, in minimal time using fluorescence detection. The molecular beacons may be comprised in kits for the detection/quantitation of cancer biomarkers in clinical samples. The invention provides improvements in simplicity, accuracy, and speed over current methods, which could allow for improved patient treatment and prognoses.

Abstract: A method of diagnosing bladder cancer in a patient comprising contacting a sample of urothelial cells obtained from the patient with a set of detectably labeled probes comprising locus-specific probes for c-myc and AURKA and centromeric probes for chromosomes 7 and 17 under hybridization conditions, and determining the presence of chromosomal abnormalities, wherein the presence of chromosomal abnormalities involving at least two of the detectably labeled probes indicates that the patient has bladder cancer; a method of monitoring recurrence of bladder cancer in a patient; a set of probes comprising locus-specific probes for c-myc and AURKA and centromeric probes for chromosomes 7 and 17; and a kit comprising (a) the set of probes and (b) instructions for diagnosing bladder cancer, or monitoring the recurrence thereof, in a patient.

Abstract: The present invention relates to methods and compositions for testing individuals to determine whether they are at increased risk of developing anti-resorptive therapy-associated osteonecrosis of the jaw.

Abstract: The present invention relates to the use of genes differentially expressed in benign thyroid lesions and malignant thyroid lesions for the diagnosis and staging of thyroid cancer.

Abstract: The present invention provides methods, kits, and compositions for detecting mutations in transient receptor potential cation channel, subfamily V, member 4 (TRPV4). In particular, mutations are detected in TRPV4 to detect diseases such as scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC) or Charcot-Marie-Tooth disease type 2C (CMT2C).

Abstract: The present invention is directed to novel haplotype tagging single nucleotide polymorphisms (SNPs) in specific regions outside the HFE gene that serve as a reliable biomarker for a decreased risk for childhood lymphoblastic leukemia (ALL) in a child. There is provided herein methods and reagents for assessing the haplotype tagging SNPs selected from the group consisting of rs807212, rs198853, rs9467664, rs2213284, rs2230655 and rs12346. The method useful in applying these SNPs in predicting a decreased risk of childhood lymphoblastic leukemia (ALL) is also disclosed.