Quest Diagnostics Investments, Inc.

Kevin Z Qu

Ke Zhang

Heather R Sanders

Anthony Sferruzza

Charles M Strom

Renius Owen

Yan Liu

Richard A Bender

Maher Albitar

Feras Hantash

James Prentice

Amber C Donahue

Shih-Min Cheng

Joseph J Catanese

Andrew Grupe

The present technology relates to methods for excluding Lynch syndrome as a possible diagnosis in patients suffering from colorectal cancers or endometrial cancers. These methods are based on detecting the methylation status of the MLH1 promoter 'C' region in colorectal and endometrial cancer patients using an improved and highly sensitive methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay.

Methods of detecting MLH1 methylation

The present technology relates to methods for determining whether a patient diagnosed with breast cancer, colorectal cancer, melanoma or lung cancer will benefit from or is predicted to be responsive to treatment with an individual therapeutic agent or a specific combination of therapeutic agents. These methods are based on screening a patient's solid tumors and detecting alterations in target nucleic acid sequences corresponding to a specific set of cancer-related genes. Kits for use in practicing the methods are also provided.

Methods for screening solid tumors for mutations

Provided herein are methods and compositions for detection of a nucleic acid target in a sample. The methods and compositions use primer directed amplification in conjunction with nucleic acid fragmentation. The methods have high sensitivity even in the presence of a large amount of non-target nucleic acid. Also provided are oligonucleotides and kits useful in the method. Exemplary nucleic acid targets are those with mutant gene sequence such as mutant sequence of the EGFR, APC, TMPRSS2, ERG and ETV1 genes.

Nucleic acid detection combining amplification with fragmentation

Provided herein are methods for miRNA profiling for the diagnosis, prognosis, and management of melanoma and differentiation of melanoma from nevi.

MicroRNA profiling for diagnosis of dysplastic nevi and melanoma

Provided herein are methods for the diagnosis, or management of liver diseases, e.g., hepatocellular carcinoma, using profiles of the miRNAs determined from cellular or acellular body fluids.

Circulating microRNA as a marker for hepatocellular carcinoma

The present technology relates to methods for determining whether a patient having thyroid nodules with indeterminate cytology will benefit from diagnostic surgery, e.g., lobectomy. These methods are based on screening a patient's thyroid nodules and detecting alterations in target nucleic acid sequences corresponding to a specific set of thyroid cancer-related genes. Kits for use in practicing the methods are also provided.

Compositions and methods for screening mutations in thyroid cancer

Microrna profiling for diagnosis of dysplastic nevi and melanoma

Provided herein are methods for the diagnosis, or management of liver diseases, e.g. hepatocellular carcinoma, using profiles of the miRNAs determined from cellular or acellular body fluids.

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Lake Forest, CA, United States of America

Kevin Z Qu