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Table 5 Clinicopathologic characterization of LS patients acording to the affected MMR gene

From: A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

Clinical characteristics Path_MMR carriers p value
Path_MLH1 Path_MSH2 Path_MSH6 Path_PMS2 Path_EPCAM
Age at CRC diagnosis (mean)* 37.5–41.7 (39.6)* 38.6–41.7 (41.5)* 31.2–43.9 (37.5) 38–58 (48) 38–65 (51.5)  
Gender (n(%))
 Female 39 (54.2) 40 (63.5) 9 (90) 7 (77.8) 1 (33.3)  
 Male 33 (45.8) 23 (36.5) 1 (10) 2 (22.2) 2 (66.7) 0.261
Family history of CRC (n(%))
 Yes 53 (56.4) 35 (48.6) 3 (30) 3 (75) 2 (66.7)  
 No 41 (43.6) 37 (51.4) 7 (70) 1 (25) 1 (33.3) 0.449
Family history LS associated cancers (n(%))
 Yes 27 (20.1) 18 (25) 1 (10) 1 (25) 2 (66.7)  
 No 107 (79.9) 54 (75) 9 (90) 3 (75) 1 (33.3) 0.135
AMSII/Bethesda criteria (n(%))
 AMSII criteria 131(97) 72(100) 8 (100) 2 (66.7) 2 (66.7)  
 Bethesda 4 (3) 0 0 0 1 (33.3) na
 Other criteria 0 0 0 1 (33.3)   
  1. *P ≤ 0.05; LS: Lynch syndrome; CRC: colorectal cancer; na: not applied; Path_MMR: Pathogenic (disease-causing) variant of an MMR gene; path_MLH1: pathogenic variant of the MLH1 gene; path_MSH2: pathogenic variant of the MSH2 gene; path_MSH6: pathogenic variant of the MSH6 gene; path_PMS2: pathogenic variant of the PMS2 gene; path_EPCAM: pathogenic variant of the EPCAM gene
  2. The analysis was performed based on available information from Hospital de las Fuerzas Armadas, Uruguay (except for the gender); Clinicas Las Condes, Chile; Hospital Italiano, Argentina; Hospital Espanol de Rosario, Argentina; Hospital de Clinicas, Brazil (except for family history of LS associated cancers) and Clinica del Country, Colombia
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