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Higher Frequency of PMS2 Loss in Colorectal Tumors in Colombian Population
Author(s) -
Shamekh Rania,
Cives Mauro,
Mejia Jaime,
Coppola Domenico
Publication year - 2015
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.29.1_supplement.926.18
Subject(s) - pms2 , msh6 , mlh1 , msh2 , microsatellite instability , colorectal cancer , medicine , population , lynch syndrome , oncology , cancer , dna mismatch repair , gastroenterology , biology , genetics , gene , microsatellite , allele , environmental health
Colorectal cancer (CRC) is the third most common cancer and the fourth most common cause of death worldwide. It accounts for over 9% of all cancer. One of the pathogenic factors of CRC is germ line mutation, leading to alteration and inactivation of the mismatch repair (MMR) genes. The aim of the study is to compare the frequency of alterations in MMR protein expression in CRC of Caucasian as compared to Colombian patients. Forty five Colombians (21F: 24M; age ranging between 27‐91 years; median 63 years) and 48 Caucasians (21F:27M; age ranging between 35‐92 years; median 65 years) with CRC were studied. The tumors microsatellite instability (MSI) status was determined in primary CRC by immunohistochemistry using the automated Ventana Ultra. The combined loss of MLH1 and PMS2 was the most common alteration in both Colombians (11%, 5 out of 45) and Caucasians (12%, 6 out of 48) CRC patients. Interestingly, the loss of PMS2 expression in the presence of intact MLH1 was the second most common alteration in Colombians (8%, 4 out of 45) which was never seen in the Caucasians cohort ( p‐value: 蠄0.05). The loss of MLH1 alone and the combined loss of MSH6 and PMS2 expression was only observed in one out of 45 (2%) in Colombians but not in Caucasians. The combined loss of MSH2 and MSH6 was not observed in any of the patients studied. The current findings highlight the significant difference in alterations of MMR protein expression in CRC patients from Colombia compared to Caucasians. These findings are novel and warrant further studies in larger cohorts.