Evidence for a familial esophageal cancer susceptibility gene on chromosome 13.
Previous segregation analyses of pedigrees from areas of China where esophageal squamous cell carcinoma (ESCC) rates are extraordinarily high suggested a Mendelian mode of transmission. We initiated a search for a major ESCC gene by conducting a genome-wide scan in ESCC tumors. Chromosome 13 showed loss of heterozygosity (LOH) in 95% of microsatellite markers, the highest frequency of LOH on any chromosome. In the current study, we established a high-resolution deletion map using 107 markers on 13q and compared LOH frequency by family history of upper gastrointestinal cancer. Overall allelic loss was significantly higher in those with a positive (versus negative) family history, suggesting the presence of an inherited tumor suppressor gene on 13q in ESCC.
Hu
Nan
N
Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Goldstein
Alisa M
AM
Albert
Paul S
PS
Giffen
Carol
C
Tang
Ze-Zhong
ZZ
Ding
Ti
T
Taylor
Philip R
PR
Emmert-Buck
Michael R
MR
D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D004938:Esophageal Neoplasms / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D016678:Genome; D006801:Humans; D019656:Loss of Heterozygosity; D018895:Microsatellite Repeats; D010375:Pedigree