Infrequent mutation in the BRCA2 gene in esophageal squamous cell carcinoma.

نویسندگان

  • Nan Hu
  • Guang Li
  • Wen-Jun Li
  • Chaoyu Wang
  • Alisa M Goldstein
  • Ze-Zhong Tang
  • Mark J Roth
  • Sanford M Dawsey
  • Jing Huang
  • Quan-Hong Wang
  • Ti Ding
  • Carol Giffen
  • Philip R Taylor
  • Michael R Emmert-Buck
چکیده

PURPOSE Previous studies have shown a high rate of allelic loss in esophageal squamous cell carcinoma (ESCC) in the vicinity of the BRCA2 gene. We aimed to assess whether the tumor suppressor gene BRCA2 was the inactivation target for allelic loss observed on chromosome 13q in ESCC. EXPERIMENTAL DESIGN We examined the entire coding sequence of the BRCA2 gene for mutations using single-strand conformation polymorphism analysis and DNA sequencing in 56 ESCC patients from Shanxi, China. RESULTS Eight mutations were identified in 5 patients (9%), including 3 with germ-line mutations and 2 with only somatic mutations. However, all but 1 of the mutations were missense or silent changes and of unknown significance. Evidence for potential biallelic inactivation was seen in only 4 (7%) cases. CONCLUSIONS BRCA2 mutations occur in ESCC but are infrequent and of unknown consequence. The putative target tumor suppressor gene corresponding to the high rate of chromosome 13q allelic loss remains unknown.

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عنوان ژورنال:
  • Clinical cancer research : an official journal of the American Association for Cancer Research

دوره 8 4  شماره 

صفحات  -

تاریخ انتشار 2002