Infrequent mutation in the BRCA2 gene in esophageal squamous cell carcinoma.
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.
Hu
Nan
N
National Cancer Institute, Bethesda, Maryland 20892, USA.
Li
Guang
G
Li
Wen-Jun
WJ
Wang
Chaoyu
C
Goldstein
Alisa M
AM
Tang
Ze-Zhong
ZZ
Roth
Mark J
MJ
Dawsey
Sanford M
SM
Huang
Jing
J
Wang
Quan-Hong
QH
Ding
Ti
T
Giffen
Carol
C
Taylor
Philip R
PR
Emmert-Buck
Michael R
MR
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
D024682:BRCA2 Protein; D004273:DNA, Neoplasm