Frequent Novel Variations Within MSH2 and MLH1 Genes in a Subset of Iranian Families With Hereditary Non-Polyposis Colorectal Cancer

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Javan Shadi; ANDALIB ALIREZA; HOSSEINI BERESHNEH ALI; EMAMI MOHAMMAD HASSAN; SALEHI RASUL; KARAMI FATEMEH

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Journal: ACTA MEDICA IRANICA Year:2019 | Volume:57 | Issue:3 Page(s): 147-151

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Title

Frequent Novel Variations Within MSH2 and MLH1 Genes in a Subset of Iranian Families With Hereditary Non-Polyposis Colorectal Cancer

Author(s)

Keywords

Hereditary nonpolyposis colorectal cancer

MSH2

MLH1

CEA

PCR-SSCP

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is the most frequent autosomal dominant predisposition for development of colorectal cancer (CRC) caused by germline defects in mismatch repair (MMR) genes. Current study was aimed to find genetic variations in MSH2 and MLH1 genes and their correlation with the serum levels of Carcinoembryonic Antigen (CEA) in seven Iranian HNPCC families. Seven unrelated Iranian families including 11 HNPCC patients and 7 affected family members were selected. They were initially screened for mutations in exons 7 of MSH2 and exon 15 of MLH1 gene through polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP). Positive PCR results were further analyzed through exon sequencing. Serum CEA level was determined using the ELISA test. PCRSSCP was positive in 8 out of 18 patients (44%) for exons 7 of MSH2 gene, whereas two samples (11%) demonstrated to bear a mutation in exon 15 of the MLH1 gene. Sequencing analysis of both amplified exons in positive and negative samples have confirmed no mutation in negative samples while revealed 5 and 7 novel mutations in exons 7 and 15, respectively. The mean serum concentration of CEA had a significant difference between HNPCC patients and their healthy family members. Our results demonstrated that the PCR-SSCP method has high specificity and sensitivity in the first step of mutation screening of HNPCC families. High frequency of novel alterations found in the current assay may revise the mutation screening of MSH2 and MLH1 genes and abet further assessment of their frequency among individual HNPCC patients.

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APA: Copy

Javan, Shadi, ANDALIB, ALIREZA, HOSSEINI BERESHNEH, ALI, EMAMI, MOHAMMAD HASSAN, SALEHI, RASUL, & KARAMI, FATEMEH. (2019). Frequent Novel Variations Within MSH2 and MLH1 Genes in a Subset of Iranian Families With Hereditary Non-Polyposis Colorectal Cancer. ACTA MEDICA IRANICA, 57(3), 147-151. SID. https://sid.ir/paper/279077/en

Vancouver: Copy

Javan Shadi, ANDALIB ALIREZA, HOSSEINI BERESHNEH ALI, EMAMI MOHAMMAD HASSAN, SALEHI RASUL, KARAMI FATEMEH. Frequent Novel Variations Within MSH2 and MLH1 Genes in a Subset of Iranian Families With Hereditary Non-Polyposis Colorectal Cancer. ACTA MEDICA IRANICA[Internet]. 2019;57(3):147-151. Available from: https://sid.ir/paper/279077/en

IEEE: Copy

Shadi Javan, ALIREZA ANDALIB, ALI HOSSEINI BERESHNEH, MOHAMMAD HASSAN EMAMI, RASUL SALEHI, and FATEMEH KARAMI, “Frequent Novel Variations Within MSH2 and MLH1 Genes in a Subset of Iranian Families With Hereditary Non-Polyposis Colorectal Cancer,” ACTA MEDICA IRANICA, vol. 57, no. 3, pp. 147–151, 2019, [Online]. Available: https://sid.ir/paper/279077/en

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