Germline Mutations in MLH1 Leading to Isolated Loss of PMS2 Expression in Lynch Syndrome: Implications for Diagnostics in the Clinic

Am J Surg Pathol. 2017 Jun;41(6):861-864. doi: 10.1097/PAS.0000000000000827.

Authors

Felipe C C Silva¹, Giovana Tardin Torrezan, Jose R O Ferreira, Ligia P Oliveira, Maria D F S Begnami, Samuel Aguiar Junior, Dirce M Carraro

Affiliation

¹ *Laboratory of Genomics and Molecular Biology, International Research Center/CIPE †Anatomic Pathology Department ‡Colorectal Tumors Department, AC Camargo Cancer Center §National Institute of Science and Technology in Oncogenomics (INCITO) São Paulo, Brazil.

PMID: 28248820
DOI: 10.1097/PAS.0000000000000827

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Biomarkers, Tumor / genetics*
Biomarkers, Tumor / metabolism
Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
Colorectal Neoplasms, Hereditary Nonpolyposis / enzymology
Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
DNA Mutational Analysis*
Gene Expression Regulation, Enzymologic
Gene Expression Regulation, Neoplastic
Genetic Predisposition to Disease
Germ-Line Mutation*
Humans
Immunohistochemistry*
Mismatch Repair Endonuclease PMS2 / genetics*
Mismatch Repair Endonuclease PMS2 / metabolism
MutL Protein Homolog 1 / genetics*
Phenotype
Predictive Value of Tests

Substances

Biomarkers, Tumor
MLH1 protein, human
PMS2 protein, human
Mismatch Repair Endonuclease PMS2
MutL Protein Homolog 1