title: Mutation screen and RNA analysis disclose the changed splicing of the E-cadherin transcription in gastric cancer.
abstract: Gastric cancer (GC) is considered to be one of the leading cancers in East Asians, and mutations in the CDH1 gene and the reduced expression of E-cadherin are the most frequent genetic alterations in gastric cancer. In this paper, we reported two novel germline CDH1 nonsynonymous mutations, c.1296 C>G (N432 K) and c.1297 G>A (D433 N) detected in sporadic Chinese GC patients. RNA splicing analysis was used to evaluate mutations' effects on E-cadherin transcription and exon definition. We revealed that the c.1296 C>G (N432 K) variant can generate the E-cadherin exon9-skipping and may be a disease-causing mutation, while the c.1297 G>A (D433 N) mutation not. Moreover, we demonstrated the E-cadherin 1054del83 transcript is a frequent event in Chinese GC patients.
authors: Department of Medical Genetics, Jiangsu Key Laboratory of Molecular Medicine, Nanjing University Medical School, Nanjing, 210093, China.
authors: Xiaowei
authors: X
authors: Li
authors: Yafan
authors: Y
authors: Gao
authors: Yiyuan
authors: Y
authors: Pan
authors: Yan
authors: Y
authors: Pan
authors: Lifeng
authors: L
authors: Wang
authors: Nong
authors: N
authors: Xiao
authors: Qiong
authors: Q
authors: He
authors: Yimei
authors: Y
authors: Fan
authors: Yaping
authors: Y
authors: Wang
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015703:Antigens, CD; D001483:Base Sequence; D015820:Cadherins / Q000235:genetics*; D016022:Case-Control Studies; D005091:Exons / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D060787:Neoplasm Grading; D009364:Neoplasm Recurrence, Local / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D012326:RNA Splicing / Q000235:genetics*; D013274:Stomach Neoplasms / Q000235:genetics*
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins