Quest Diagnostics Investments, Inc.

Clinical Genomics Pty. Ltd.

Amber C Donahue

Feras Hantash

Kevin Z Qu

Yen-lin Peng

Frederic Waldman

Susanne Kartin Pedersen

Rohan Baker

Lawrence LaPointe

Yen-Lin Peng

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.

MLH1 methylation assay

Methods of detecting MLH1 methylation

Disclosed herein is a combination of genomic sequences whose methylation patterns have utility for the improved detection and differentiation between colorectal neoplasms. Further disclosed herein are methods, nucleic acids and kits for detecting or differentiating between colorectal neoplasms.

Methylated markers for colorectal cancer

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.

Provided herein are methods for detecting and discriminating BRAF V600 mutations. Also provided herein are methods for diagnosis, prognosis, management, and treatment decisions of BRAF V600 mutation-related diseases or conditions.

Growing community of inventors

Rancho Santa Margarita, CA, United States of America

Amber C Donahue