Association of monoallelic MUTYH mutation among Egyptian patients with colorectal cancer

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• 作者：Afaf Elsaid ; Rami Elshazli ; Fatma El-Tarapely ; Hossam Darwish…
• 关键词：Colorectal cancer ; Genetic mutations ; MUTYH p.Y179C ; MUTYH p.G396D
• 刊名：Familial Cancer
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：16
• 期：1
• 页码：83-90
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Cancer Research; Human Genetics; Epidemiology; Biomedicine, general;
• 出版者：Springer Netherlands
• ISSN：1573-7292
• 卷排序：16

文摘

Colorectal cancer (CRC) is a heterogeneous triat that involves both environmental and genetic factors. Genetic mutations of MUTYH (p.Y179C and p.G396D) have been reported to be associated with increased risk of CRC among several ethnic populations. The aim of this work is to assess the association of the monoallelic MUTYH mutations (p.Y179C and p.G396D) with increased risk of CRC among Egyptian patients. This study included 120 unrelated CRC Egyptian patients who were compared with 100 healthy controls from the same locality. For all individuals, DNA was genotyped for MUTYH p.Y179C and MUTYH p.G396D mutations using the T-ARMS-PCR technique. The frequencies of monoallelic MUTYH mutations showed a strong association with the increased risk of CRC among Egyptian patients compared with controls (12.5 vs. 4.0 %, OR = 3.49, 95 % CI = 1.12–10.90, P = 0.03). Moreover, the frequency of MUTYH p.Y179C mutation was noted to be significantly higher among CRC patients compared to controls rather than MUTYH p.G396D mutation. Interestingly, CRC patients with tumors in the right side colon showed an evidence for association with the MUTYH p.Y179C mutation compared with tumors in the left side colon (p = 0.01). MUTYH p.Y179C mutation was associated with an increased risk of CRC among Egyptian patients rather than MUTYH p.G396D mutation.