CLINICAL AND GENETIC CHARACTERIZATION OF FAMILIAL ADENOMATOUSPOLYPOSIS: AN IRANIAN POPULATION STUDY

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MIRINEZHAD SEYED KAZEM; MOADDAB YAGHUB; MASNADI SHIRAZINEZHAD KUROSH; JABBARPOUR BONYADI MORTEZA; EFTEKHARSADAT AMIR TAHER; MIR NAJEAD GRAMI SOSAN; SOMI MOHAMMAD HOSSEIN

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Journal: Iranian Red Crescent Medical Journal Year:2018 | Volume:20 | Issue:4 Page(s): 0-0

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Title

CLINICAL AND GENETIC CHARACTERIZATION OF FAMILIAL ADENOMATOUSPOLYPOSIS: AN IRANIAN POPULATION STUDY

Author(s)

Keywords

APC GENE

COLORECTAL CANCER

CORRELATION

FAMILIAL ADENOMATOUS POLYPOSIS

GENOTYPE

IRANIAN POPULATION

PHENOTYPE

Abstract

Background: FAMILIAL ADENOMATOUS POLYPOSIS (FAP) is an inherited autosomal dominant disorder, which can develop into cancerin early adulthood (100%) and is a result of germline mutations in the adenomatous polyposis coli (APC) genes. Objectives: Identify APC germline mutations and assessed relationships between GENOTYPEs and PHENOTYPEs. Methods: In a census-based cross-sectional study, FAP patients were selected from the referral medical centers of East Azarbaijanprovince between 2013 and 2016. Written informed consent was obtained from all patients for blood sampling and genetic testing. Patients undergo genetic counseling, and the pedigree was drawn. After peripheral blood sampling and DNA extraction, thepotential mutation of the APC GENE was detected by polymerase chain reaction (PCR), and DNA sequencing. Statistical tests werecarried out using SPSS version 16. 0. Categorical data between two groups were compared using the chi-square test. Independentsample t-test was used for comparison of continuous variables between two groups. The P-value < 0. 05 was considered statisticallysignificant. Results: We identified APC GENE mutations in 18 of the 30 unrelated patients with FAP (60%), including one novel frame shiftmutation, three nonsense mutations, and 14 novel missense mutations (78%). The most frequent mutations were in codon 1308 and 1350. Meanwhile, we found a novel polymorphism. Conclusions: Our study results indicated that the APC GENE has a high mutation detection rate (60%) between codons 999 and 1410, and codons 1308, and 1350 are two mutation hotspot regions.

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APA: Copy

MIRINEZHAD, SEYED KAZEM, MOADDAB, YAGHUB, MASNADI SHIRAZINEZHAD, KUROSH, JABBARPOUR BONYADI, MORTEZA, EFTEKHARSADAT, AMIR TAHER, MIR NAJEAD GRAMI, SOSAN, & SOMI, MOHAMMAD HOSSEIN. (2018). CLINICAL AND GENETIC CHARACTERIZATION OF FAMILIAL ADENOMATOUSPOLYPOSIS: AN IRANIAN POPULATION STUDY. IRANIAN RED CRESCENT MEDICAL JOURNAL (IRCMJ), 20(4), 0-0. SID. https://sid.ir/paper/293724/en

Vancouver: Copy

MIRINEZHAD SEYED KAZEM, MOADDAB YAGHUB, MASNADI SHIRAZINEZHAD KUROSH, JABBARPOUR BONYADI MORTEZA, EFTEKHARSADAT AMIR TAHER, MIR NAJEAD GRAMI SOSAN, SOMI MOHAMMAD HOSSEIN. CLINICAL AND GENETIC CHARACTERIZATION OF FAMILIAL ADENOMATOUSPOLYPOSIS: AN IRANIAN POPULATION STUDY. IRANIAN RED CRESCENT MEDICAL JOURNAL (IRCMJ)[Internet]. 2018;20(4):0-0. Available from: https://sid.ir/paper/293724/en

IEEE: Copy

SEYED KAZEM MIRINEZHAD, YAGHUB MOADDAB, KUROSH MASNADI SHIRAZINEZHAD, MORTEZA JABBARPOUR BONYADI, AMIR TAHER EFTEKHARSADAT, SOSAN MIR NAJEAD GRAMI, and MOHAMMAD HOSSEIN SOMI, “CLINICAL AND GENETIC CHARACTERIZATION OF FAMILIAL ADENOMATOUSPOLYPOSIS: AN IRANIAN POPULATION STUDY,” IRANIAN RED CRESCENT MEDICAL JOURNAL (IRCMJ), vol. 20, no. 4, pp. 0–0, 2018, [Online]. Available: https://sid.ir/paper/293724/en

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