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somatic braf v600e mutation in familial colorectal cancer type x: a new study in central iran
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نویسنده
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zeinalian mehrdad ,emami mohammad hassan ,pourreza mohammad reza ,tabatabaiefar mohammad amin ,hashemzadeh-chaleshtori morteza
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منبع
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jentashapir journal of cellular and molecular biology - 2021 - دوره : 12 - شماره : 2 - صفحه:1 -6
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چکیده
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Background: braf-v600e is a known prognostic/predictive marker in colorectal cancer (crc), detected in 4 - 12% of all patients with this cancer. familial-crc-type-x (fccx) is a subtype of mismatch-repair (mmr) proficient crc with an unknown genetic cause. objectives: given the lack of enough information on the molecular aspects of fccx among iranians, this study was conducted to evaluate the braf-v600e hot-spot mutation in tumor dna in fccx probands in central iran. methods: this was a cross-sectional study in which 48 fccx probands were recruited according to amsterdam-ii criteria, andmmr proficiency was confirmed by msi testing and ihc-mmrs. tumors’ dna samples were assessed for the braf-v600e mutation by sanger-sequencing. results: none of the 48 assessed fccx probands presented the braf-v600e mutation. conclusions: it can be suggested that fccx tumors have a good prognosis compared to other crcs.
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کلیدواژه
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braf mutation ,familial colorectal cancer type x ,iran
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آدرس
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isfahan university of medical sciences, school of medicine, pediatric inherited disease research center, research institute for primordial prevention of non-communicable disease, department of genetics and molecular biology, iran. ala cancer prevention and control center, iran, poursina hakim research institute for health care development, gastrointestinal and hepatobiliary diseases research center, iran, isfahan university of medical sciences, school of medicine, department of genetics and molecular biology, iran, isfahan university of medical sciences, school of medicine, pediatric inherited disease research center, research institute for primordial prevention of non-communicable disease, department of genetics and molecular biology, iran, shahrekord university of medical sciences, cellular and molecular research center, iran
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پست الکترونیکی
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mchalesh@yahoo.com
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Authors
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