Allelic Imbalance at an 8q24 Oncogenic SNP is Involved in Activating MYC in Human Colorectal Cancer

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• 作者：Keishi Sugimachi MD ; PhD (1)
  Atsushi Niida PhD (2)
  Ken Yamamoto MD ; PhD (3)
  Teppei Shimamura PhD (2)
  Seiya Imoto PhD (2)
  Hisae Iinuma PhD (4)
  Yoshiaki Shinden MD (1)
  Hidetoshi Eguchi MD ; PhD (1)
  Tomoya Sudo MD ; PhD (1)
  Masahiko Watanabe MD ; PhD (5)
  Junichi Tanaka MD ; PhD (6)
  Shinei Kudo MD ; PhD (6)
  Kazuo Hase MD ; PhD (7)
  Masato Kusunoki MD ; PhD (8)
  Kazutaka Yamada MD ; PhD (9)
  Yasuhiro Shimada MD ; PhD (10)
  Kenichi Sugihara MD ; PhD (11)
  Yoshihiko Maehara MD ; PhD (12)
  Satoru Miyano PhD (2)
  Masaki Mori MD ; PhD (13)
  Koshi Mimori MD ; PhD (1)
  
  1. Department of Surgery ; Kyushu University Beppu Hospital ; Beppu ; Japan
  2. Laboratory of DNA Information Analysis ; Human Genome Center ; Institute of Medical Science ; University of Tokyo ; Tokyo ; Japan
  3. Department of Molecular and Cellular Biology ; Medical Institute of Bioregulation ; Graduate School of Medical Sciences ; Kyushu University ; Fukuoka ; Japan
  4. Department of Surgery ; Teikyo University School of Medicine ; Tokyo ; Japan
  5. Department of Surgery ; Kitazato University ; Sagamihara ; Japan
  6. Digestive Disease Center ; Northern Yokohama Hospital ; Showa University ; Yokohama ; Japan
  7. Department of Surgery ; National Defense Medical College ; Tokorozawa ; Japan
  8. Department of Surgery ; Mie University ; Tsu ; Japan
  9. Department of Surgery ; Takano Hospital ; Kumamoto ; Japan
  10. Department of Surgery and Digestive Tract Medicine ; National Cancer Center ; Tokyo ; Japan
  11. Department of Surgery ; Tokyo Medical and Dental University ; Tokyo ; Japan
  12. Department of Surgery and Science ; Graduate School of Medical Sciences ; Kyushu University ; Fukuoka ; Japan
  13. Department of Gastroenterological Surgery ; Graduate School of Medicine ; Osaka University ; Suita ; Japan
  
• 刊名：Annals of Surgical Oncology
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：21
• 期：4-supp
• 页码：515-521
• 全文大小：729 KB
• 参考文献：1. Washington, MK (2008) Colorectal carcinoma: selected issues in pathologic examination and staging and determination of prognostic factors. Arch Pathol Lab Med. 132: pp. 1600-1607
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• 刊物主题：Surgical Oncology; Oncology; Surgery;
• 出版者：Springer US
• ISSN：1534-4681

文摘

Background The rs6983267 at 8q24.21 has been established as a significant cancer-related single nucleotide polymorphism (SNP). The risk allele showed similarity to the binding site of transcription factor TCF4/LEF1 that activates transcription of MYC. However, little is known about the role of this SNP in increasing MYC activity in colorectal cancers (CRCs). Methods The genotypes of rs6983267 in peripheral blood and primary cancers, MYC activity and copy number (CN) alteration were examined in 107 CRCs. Next, we plotted the number of cancers cell lines exhibiting specific G/T genotypes in 746 cancer cell lines of the Sanger Institute database. Then we validated the relationship between the 8q24 SNP status and clinicopathologic parameters in 68 CRCs with loss of heterozygosity (LOH). Results The MYC module activity was activated by either transcription in the risk allele (G) or by amplification in the non-risk allele (T). Then, we confirmed that the CN amplification dominantly occurred in the non-risk allele, whereas CN neutral LOH, which indicated uniparental disomy (UPD) was more frequently observed for the risk allele. Finally, we confirmed that risk allele dominant cases, either by amplification or by UPD, indicated a more malignant clinical phenotype than non-risk allele dominant cases. Conclusions The development of CRC requires MYC activation through retention of the risk allele, or amplification of the non-risk allele at the oncogenic SNP in the site of primary tumor.