scholarly journals Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily theMSH2gene

Cancer ◽  
2004 ◽  
Vol 101 (1) ◽  
pp. 172-177 ◽  
Author(s):  
Pedro A. Lage ◽  
Cristina Albuquerque ◽  
Rita G. Sousa ◽  
Marilia L. Cravo ◽  
Maria Salazar ◽  
...  
Keyword(s):  
Colorectal Carcinoma ◽  
Mismatch Repair ◽  
Pathogenic Mutation ◽  
Mismatch Repair Genes ◽  
Hereditary Nonpolyposis ◽  
Endometrial Carcinomas ◽  
Repair Genes ◽  
Hereditary Nonpolyposis Colorectal Carcinoma

Abstract 2754: Novel germline copy number variations in patients with hereditary colorectal carcinoma with no mutation in the mismatch repair genes

2015 ◽  
Author(s):  
Rolando André Rios Villacis ◽  
Érika Maria Monteiro Santos ◽  
Dirce Maria Carraro ◽  
Benedito Mauro Rossi ◽  
Silvia Regina Rogatto
Keyword(s):  
Colorectal Carcinoma ◽  
Mismatch Repair ◽  
Copy Number ◽  
Copy Number Variations ◽  
Mismatch Repair Genes ◽  
Repair Genes

Muir-Torre Syndrome

2014 ◽  
Vol 138 (12) ◽  
pp. 1685-1689 ◽  
Author(s):  
Feriyl Bhaijee ◽  
Alexandra S. Brown
Keyword(s):  
Mismatch Repair ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Dna Mismatch Repair ◽  
Mismatch Repair Genes ◽  
Cancer Syndrome ◽  
Dna Mismatch ◽  
Screening And Surveillance ◽  
Dna Mismatch Repair Genes ◽  
Hereditary Nonpolyposis ◽  
Repair Genes

Muir-Torre syndrome (MTS) is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Sebaceous tumors include sebaceous adenoma and carcinoma, which may be solitary or multiple. Visceral malignancies most often arise in the colorectum and endometrium. Because a subset of patients with phenotypic MTS will have germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1, MTS is considered a phenotypic subtype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome), in which inherited defects in DNA mismatch repair genes result in microsatellite instability. Pathologists have an important role in the early detection and initial diagnosis of MTS: identification of at-risk individuals allows appropriate screening and surveillance for visceral malignancies, thereby reducing morbidity and mortality. Herein, we describe the clinicopathologic features of MTS.

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