title: Amplification and overexpression ofCTTNandCCND1at chromosome 11q13 in Esophagus squamous cell carcinoma (ESCC) of North Eastern Chinese Population.
abstract: Esophageal squamous cell carcinoma (ESCC) is a genetically complex tumor type and is a major cause of cancer-related mortality. The combination of genetics, diet, behavior, and environment plays an important role in the carcinogenesis of ESCC. To characterize the genomic aberrations of this disease, we investigated the genomic imbalances in 19 primary ESCC cases using high-resolution array comparative genomic hybridization (CGH). All cases showed either loss or gain of whole chromosomes or segments of chromosome(s) with variable genomic sizes. The copy number alterations per case affected the median 34% (~ 1,034Mb/3,000Mb) of the whole genome. Recurrent gains were 1q21.3-qter, 3q13.11-qter, 5pter-p11, 7pter-p15.3, 7p12.1-p11.2, 7q11-q11.2, 8p12-qter, 11q13.2-q13.3, 12pter-p13.31, 17q24.2, 20q11.21-qter, and 22q11.21-q11.22 whereas the recurrent losses were 3pter-p11.1, 4pter-p12, 4q28.3-q31.22, 4q31.3-q32.1, 9pter-p12, 11q22.3-qter and 13q12.11-q22.1. Amplification of 11q13 resulting in overexpression ofCTTN/CCND1was the most prominent finding, which was observed in 13 of 19 ESCC cases. These unique profiles of copy number alteration should be validated by further studies and need to be taken into consideration when developing biomarkers for early detection of ESCC.
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA; Department of Clinical Medicine, College of Medicine and Health, Lishui University, Zhejiang, 323000, P.R. China.
authors.forename: Xiaoxia
authors.initials: X
authors.lastname: Hu
authors.affiliation: Department of Pathology, Korea University College of Medicine, Seoul, 02841, Republic of Korea.
authors.forename: Ji Wook
authors.initials: JW
authors.lastname: Moon
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
authors.forename: Shibo
authors.initials: S
authors.lastname: Li
authors.affiliation: Department of Pathology, Korea University College of Medicine, Seoul, 02841, Republic of Korea.
authors.forename: Weihong
authors.initials: W
authors.lastname: Xu
authors.affiliation: Department of Pathology, Korea University College of Medicine, Seoul, 02841, Republic of Korea.
authors.forename: Xianfu
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Internal Medicine, the First Hospital of Jilin University, Jilin, 130021, P.R. China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Pathology, Korea University College of Medicine, Seoul, 02841, Republic of Korea.
authors.forename: Ji-Yun
authors.initials: JY
authors.lastname: Lee
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000503:physiopathology; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics* / Q000378:metabolism; D055028:Comparative Genomic Hybridization; D051356:Cortactin / Q000235:genetics* / Q000378:metabolism; D019938:Cyclin D1 / Q000235:genetics* / Q000378:metabolism; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000503:physiopathology; D000077277:Esophageal Squamous Cell Carcinoma; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged
chemical_list: C530104:CCND1 protein, human; C495868:CTTN protein, human; D051356:Cortactin; D019938:Cyclin D1
keywords: Array CGH; CCND1; CTTN; Esophageal squamous cell carcinoma