Allelotyping of esophageal squamous-cell carcinoma on chromosome 13 defines deletions related to family history.
We previously reported that esophageal squamous-cell cancers (ESCC) from Shanxi Province in China show frequent allelic loss on chromosome 13. Moreover, tumors from patients with a positive family history of upper gastrointestinal tumors exhibit more frequent loss of heterozygosity (LOH) on this chromosome than do those from patients without a family history. These results suggest the possibility of a familial ESCC susceptibility gene. To investigate this phenomenon further, we performed an in-depth analysis of allelic-loss data sets from both patients with and without a family history of upper gastrointestinal tumors. Comparisons between deletion frequency and location were made with respect to family history status, risk factors, and clinical/pathologic characteristics of the tumors. The analysis confirmed that tumor LOH was significantly higher in patients with a positive family history than in those who were family-history-negative, and four common deletion regions in these family-history-positive patients were defined. Statistically significant associations were also observed between allelic loss and tumor grade and location, as well as the presence of lymph node metastases. Taken together, these data indicate that a gene or genes on chromosome 13 play an important role in the etiology and progression of ESCC.
Hu
Nan
N
National Cancer Institute, 9000 Rockville Pike, Bethesda, MD 20892, USA.
Su
Hua
H
Li
Wen Jun
WJ
Giffen
Carol
C
Goldstein
Alisa M
AM
Hu
Ying
Y
Wang
Chaoyu
C
Roth
Mark J
MJ
Li
Guang
G
Dawsey
Sanford M
SM
Xu
Yi
Y
Taylor
Philip R
PR
Emmert-Buck
Michael R
MR
D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D002681:China / Q000453:epidemiology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005190:Family; D005770:Gastrointestinal Neoplasms / Q000235:genetics; D020022:Genetic Predisposition to Disease; D016678:Genome; D006801:Humans; D008019:Life Style; D019656:Loss of Heterozygosity; D008207:Lymphatic Metastasis; D018895:Microsatellite Repeats; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D015996:Survival Rate