title: Infrequent mutation in the BRCA2 gene in esophageal squamous cell carcinoma.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
authors.affiliation: National Cancer Institute, Bethesda, Maryland 20892, USA.
authors.forename: Nan
authors.initials: N
authors.lastname: Hu
authors.forename: Guang
authors.initials: G
authors.lastname: Li
authors.forename: Wen-Jun
authors.initials: WJ
authors.lastname: Li
authors.forename: Chaoyu
authors.initials: C
authors.lastname: Wang
authors.forename: Alisa M
authors.initials: AM
authors.lastname: Goldstein
authors.forename: Ze-Zhong
authors.initials: ZZ
authors.lastname: Tang
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Roth
authors.forename: Sanford M
authors.initials: SM
authors.lastname: Dawsey
authors.forename: Jing
authors.initials: J
authors.lastname: Huang
authors.forename: Quan-Hong
authors.initials: QH
authors.lastname: Wang
authors.forename: Ti
authors.initials: T
authors.lastname: Ding
authors.forename: Carol
authors.initials: C
authors.lastname: Giffen
authors.forename: Philip R
authors.initials: PR
authors.lastname: Taylor
authors.forename: Michael R
authors.initials: MR
authors.lastname: Emmert-Buck
mesh_terms: D000483:Alleles; D024682:BRCA2 Protein / Q000235:genetics*; D001483:Base Sequence; D002294:Carcinoma, Squamous Cell / Q000235:genetics / Q000473:pathology*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D004938:Esophageal Neoplasms / Q000235:genetics / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D024682:BRCA2 Protein; D004273:DNA, Neoplasm