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

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

Clinical characteristics	Path_MMR carriers					p value
Clinical characteristics	Path_MLH1	Path_MSH2	Path_MSH6	Path_PMS2	Path_EPCAM	p value
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)

*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
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

ISSN: 1471-2407