Mutation spectrum in South American Lynch syndrome families

Table 1 Summary of register data from MMR South American Lynch syndrome families

South American Institutions	Total number of patients/families	MMR mutation carriers	% of MMR mutation carriers	Mean age at CRC diagnosis	Mean age at endometrial cancer diagnosis
Hospital Italiano (Buenos Aires, Argentina)	28	14	50.0	44.3 (SD 6.2)	46.3 (SD 5.5)
Hospital de las Fuerzas Armadas (Montevideo, Uruguay)	25	7	28.0	35.1 (SD 7.6)	41.5 (SD 8.3)
Clinica Las Condes^a (Santiago, Chile)	50	20	40.0	35.7 (SD 10.7)	41.1 (SD 8.8)
Barretos Cancer Hospital^a (Barretos, Brazil)	23	15	65.2	39.4 (SD 13.8)	49.8 (SD 5.3)
Colombia^c	13	8	61.5	NA	NA
Southeastern Brazil^b	128	35	27.3	42.3 (SD 11.4)	48.8 (SD 2.4)
Total	267	99	37.1

^aMLPA analysis included, ^bValentin et al. 2011 [3] and Rossi et al. 2002 [5], ^cGiraldo et al. 2005 [2] and Alonso-Espinaco et al. 2011 [11], NA Information not available, MMR mismatch-repair genes, SD standard deviation, CRC colorectal cancer.

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