Fine deletion mapping in esophageal cancer by linkage mapping set

通过连锁作图集对食管癌进行精细缺失作图

• 批准号: 08671479
• 负责人: ISHIDA Kaoru
• 金额: $ 1.41万
• 依托单位: Iwate Medical University School of Medicine
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1996
• 资助国家: 日本
• 起止时间: 1996 至 1997
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-08671479/
• 关键词: esophageal cancer; Chromosome; Prognosis; 遺伝子; 変異

We investigated the deletion map on all chromosomes of esophageal cancers using linkage mapping set. Loss of heterozygosity on 3p, 5q, 6p, 6q, 9p, 9q, 17p, 17q, 18q, and 21q was over 40%. The most frequent LOH was confirmed on 17q25.1, in which was previously identified as the TOC (tylosis oesophageal cancer) locus, responsible for the pedigrees with the high risk of esophageal cancer. Unknown tumor suppressor qene may exsist on 17q25.1. Disease outcome of patients exhibiting imultaneous deletion of 5q, 9p, 17p was worse than in patients without them. Frequent deletion on 9q and mutation of the PTCH gene occured in basaloid cell carcinomas. Homozygous deletion and de novo methylation of the p16/CDKN2 gene were observed in half of esophageal cancer patients, who exhibited wores prognoses.

我们利用连锁作图集研究了食管癌所有染色体上的缺失图谱。3p、5q、6p、6q、9p、9q、17p、17q、18q和21q杂合性缺失超过40%。最常见的LOH被确认在17q25.1，在此之前被确定为TOC （tylosis oesophageal cancer，食管癌）位点，负责食管癌高风险的家系。未知的肿瘤抑制基因可能存在于17q25.1上。同时缺失5q， 9p， 17p的患者的疾病结局比不缺失5q， 9p， 17p的患者差。在基底细胞癌中，PTCH基因的9q缺失和突变频繁发生。在一半的食管癌患者中观察到p16/CDKN2基因的纯合缺失和从头甲基化，这些患者表现出不良的预后。

项目成果

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Maesawa C., et al.: "Inactivation of CDKN2 gene by homozygous deletion and de novo methylation is associated with advanced stage esophageal squamous cell carcinoma" Cancer Res.88. 340-343 (1997)

Maesawa C. 等人：“纯合缺失和从头甲基化导致的 CDKN2 基因失活与晚期食管鳞状细胞癌相关”Cancer Res.88。

Iwaya T., et al: "Deletion of minimal region of the tylosis oesophageal cancer (TOC) locus on chromosome 17q25.1 in sporadic esophageal cancer" Gastroenterology. (in press).

Iwaya T. 等人：“散发性食管癌染色体 17q25.1 上典型食管癌 (TOC) 基因座的最小区域的缺失”胃肠病学。

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Maesawa C 等人：“食管鳞状细胞癌中果蝇修补基因的人类同源物突变”基因染色体 Caucer。

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