Abstract: A method of providing a diagnosis for a subject having Cowden-like syndrome or PTEN germline mutations is described. The method includes the steps of: (a) obtaining a biological sample from a subject; (b) conducting a germline PTEN mutation and deletion analysis of genomic DNA from the biological sample; (c) determining the level of copy number variation in the genomic DNA; (d) comparing the level of copy number variation in the genomic DNA to a control value for copy number variation; and (e) diagnosing the subject as having an increased risk of developing a neurodevelopmental disorder if the copy number variation level is higher than the control value.

Abstract: In one aspect, the invention is directed to a method of detecting Cowden syndrome (CS) or CS-like syndrome in an individual comprising detecting the presence of a mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, wherein detection of a mutated SDHB, SDHD or a combination thereof indicates that the individual is positive for CS or CS-like syndrome. In another aspect, the invention is directed to a method of determining whether an individual is at risk for developing Cowden syndrome (CS) or CS-like syndrome comprising detecting the presence of a mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, wherein detection of a mutated SDHB, SDHD or a combination thereof indicates that the individual is at risk for developing for CS or CS-like syndrome.

Abstract: In one aspect, the invention is directed to a method of detecting Cowden syndrome (CS) or CS-like syndrome in an individual comprising detecting the presence of a mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, wherein detection of a mutated SDHB, SDHD or a combination thereof indicates that the individual is positive for CS or CS-like syndrome. In another aspect, the invention is directed to a method of determining whether an individual is at risk for developing Cowden syndrome (CS) or CS-like syndrome comprising detecting the presence of a mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, wherein detection of a mutated SDHB, SDHD or a combination thereof indicates that the individual is at risk for developing for CS or CS-like syndrome.

Abstract: A method of diagnosing Cowden syndrome (CS) and Cowden-like Syndrome (CLS) is described. The method includes diagnosing CS and CLS in a subject by identifying a decrease in expression of the KILLIN gene, or by identifying hypermethylation of the KILLIN promoter region. Kits for diagnosing CS and CLS by identifying subjects having KILLIN promoter region hypermethylation and primers specific for a methylated KILLIN promoter region are also described.

Abstract: A method of diagnosing Cowden syndrome (CS) and Cowden-like Syndrome (CLS) is described. The method includes diagnosing CS and CLS in a subject by identifying a decrease in expression of the KILLIN gene, or by identifying hypermethylation of the KILLIN promoter region. Kits for diagnosing CS and CLS by identifying subjects having KILLIN promoter region hypermethylation and primers specific for a methylated KILLIN promoter region are also described.

Abstract: In one aspect, the invention is directed to a method of detecting Cowden syndrome (CS) or CS-like syndrome in an individual comprising detecting the presence of a mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, wherein detection of a mutated SDHB, SDHD or a combination thereof indicates that the individual is positive for CS or CS-like syndrome. In another aspect, the invention is directed to a method of determining whether an individual is at risk for developing Cowden syndrome (CS) or CS-like syndrome comprising detecting the presence of a mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, wherein detection of a mutated SDHB, SDHD or a combination thereof indicates that the individual is at risk for developing for CS or CS-like syndrome.

Abstract: A system provides a disease specific risk reference and includes a plurality of executable item modules that each define a different elementary disease to family structure relationship for a specific disease represented as a logical Boolean operation, and an item scoring engine that ranks positively scored item modules based on a risk level associated with a corresponding elementary disease to family structure relationship, wherein the positive scores identify an existence of a given disease to family structure relationship. The system further includes a disease specific risk reference generator that extracts item content associated with a subset of the highest ranked positively scored item modules from memory and provides the extracted item content in a disease specific risk reference for review by a clinician.

Abstract: Provided herein are targets that can be used for the diagnosis, prognosis and therapy of a variety of cancers.

Abstract: One aspect of the present disclosure relates to a method for predicting a subject's risk of developing an esophageal cancer, a precursor lesion, or both. One step of the method includes obtaining a biological sample from the subject. Next, the presence of at least one germline mutation is determined in the biological sample. The subject is at an increased risk of an esophageal cancer, a precursor lesion, or both, where the presence of at least one germline mutation is determined.

Abstract: A method of diagnosing Cowden syndrome (CS) and Cowden-like Syndrome (CLS) is described. The method includes diagnosing CS and CLS in a subject by identifying a decrease in expression of the KILLIN gene, or by identifying hypermethylation of the KILLIN promoter region. Kits for diagnosing CS and CLS by identifying subjects having KILLIN promoter region hypermethylation and primers specific for a methylated KILLIN promoter region are also described.

Abstract: A system provides a disease specific risk reference and includes a plurality of executable item modules that each define a different elementary disease to family structure relationship for a specific disease represented as a logical Boolean operation, and an item scoring engine that ranks positively scored item modules based on a risk level associated with a corresponding elementary disease to family structure relationship, wherein the positive scores identify an existence of a given disease to family structure relationship. The system further includes a disease specific risk reference generator that extracts item content associated with a subset of the highest ranked positively scored item modules from memory and provides the extracted item content in a disease specific risk reference for review by a clinician.

Abstract: The invention is directed to methods of detecting Cowden syndrome (CS) or CS-like syndrome in an individual or determining whether an individual is at risk for developing Cowden syndrome (CS) or CS-like syndrome comprising detecting the presence of a mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, wherein detection of a mutated SDHB, SDHD or a combination thereof indicates that the individual is positive for, or at risk of developing, CS or CS-like syndrome. The invention is also directed to an article of manufacture for detecting Cowden syndrome (CS) or Cowden-like syndrome in an individual, comprising one or more agents that detects mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, and instructions for use.

Abstract: Provided herein are targets that can be used for the diagnosis, prognosis and therapy of a variety of cancers.

Abstract: The invention is directed to methods of diagnosing breast cancer, susceptibility to breast cancer, nodal metastasis of a breast cancer and screening for breast cancer in an individual in need thereof comprising detecting the presence of a loss of heterozygosity/allelic imbalance (LOH/AI) at one or more specific loci (markers) in the genome of the individual, wherein the presence of the LOH/AI at the one or more specific loci in the genome of the individual is indicative of a diagnosis of breast cancer in the individual.

Abstract: Provided herein are targets that can be used for the diagnosis, prognosis and therapy of a variety of cancers.

Abstract: Provided herein are targets that can be used for the diagnosis, prognosis and therapy of a variety of cancers.

Abstract: The invention is directed to a method of diagnosing cancer, or susceptibility to cancer, in an individual in need thereof comprising detecting homozygosity at one or more loci of the individual's nucleic acid, wherein the one or more loci is selected from the group consisting of: D2S1790, D3S2427, D4S2394, D5S2505, D6S1959, D7S3046, D9S1871, D10S1222, D11S1993, D11S1986, D11S4463, D13S793, D15S822, GATA178F11, D18S1376, and D20S477, and homozygosity at the one or more loci is indicative of a diagnosis of cancer, or susceptibility to cancer, in the individual. Also provided herein are kits for use in diagnosing cancer or susceptibility to cancer in an individual comprising one or more regents for detecting the presence of a homozygosity at one or more loci selected from the group consisting of: D2S1790, D3S2427, D4S2394, D5S2505, D6S1959, D7S3046, D9S1871, D10S1222, D11S1993, D11S1986, D11S4463, D13S793, D15S822, GATA178F11, D18S1376, and D20S477 and instructions for use.

Abstract: The invention is directed to methods of diagnosing breast cancer, susceptibility to breast cancer, nodal metastasis of a breast cancer and screening for breast cancer in an individual in need thereof comprising detecting the presence of a loss of heterozygosity/allelic imbalance (LOH/AI) at one or more specific loci (markers) in the genome of the individual, wherein the presence of the LOH/AI at the one or more specific loci in the genome of the individual is indicative of a diagnosis of breast cancer in the individual.

Abstract: In one aspect, the invention is directed to a method of detecting Cowden syndrome (CS) or CS-like syndrome in an individual comprising detecting the presence of a mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, wherein detection of a mutated SDHB, SDHD or a combination thereof indicates that the individual is positive for CS or CS-like syndrome. In another aspect, the invention is directed to a method of determining whether an individual is at risk for developing Cowden syndrome (CS) or CS-like syndrome comprising detecting the presence of a mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, wherein detection of a mutated SDHB, SDHD or a combination thereof indicates that the individual is at risk for developing for CS or CS-like syndrome.

Abstract: Methods of identifying malignant thyroid tissue comprising testing a thyroid tissue sample for the expression of at least two genes chosen from CCND2, PCSK2, and PLAB. Kits for use in the disclosed methods are also provided.