A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome

• Published in: Modern pathology Vol. 30; no. 3; pp. 440 - 447
• Main Authors: Adar, Tomer, Rodgers, Linda H, Shannon, Kristen M, Yoshida, Makoto, Ma, Tianle, Mattia, Anthony, Lauwers, Gregory Y, Iafrate, Anthony J, Chung, Daniel C
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.03.2017; Elsevier Limited
• Subjects: 692/420/2489/68; 692/699/67/1504/1885; 692/699/67/2322; 692/700/139/1512; Aged; Aged, 80 and over; Colorectal cancer; Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; Colorectal Neoplasms, Hereditary Nonpolyposis - pathology; DNA Methylation; Female; Gastroenterology; Genetic counseling; Genetic testing; Genotype & phenotype; Humans; Laboratory Medicine; Male; Mass Screening; Medical screening; Medicine; Medicine & Public Health; Middle Aged; Mutation; MutL Protein Homolog 1 - genetics; original-article; Pathology; Promoter Regions, Genetic; Proto-Oncogene Proteins B-raf - genetics; Risk assessment; Tumors; United States > US; Massachusetts

To determine the correlation between BRAF genotype and MLH1 promoter methylation in a screening program for Lynch syndrome (LS), a universal screening program for LS was established in two medical centers. Tumors with abnormal MLH1 staining were evaluated for both BRAF V600E genotype and MLH1 promot...