Allelic loss on chromosome 13 occurs frequently in esophageal squamous cell
carcinoma. However, studies of the two known tumor suppressor genes locate
d on 13q, RBI and BRCA2, have shown few mutations, suggesting that other ge
nes are likely to be involved in the development of this tumor type. To ide
ntify a minimal deletion interval, we first analyzed 42 microsatellite mark
ers spanning chromosome bands 13q11-q13 in 56 esophageal squamous cell carc
inoma patients, including 34 with a family history of upper gastrointestina
l cancer and 22 without a family history of cancer. Lifestyle risk factors
and clinical/pathologic characteristics were also collected. Two commonly d
eleted regions were identified: one was located on band 13q12.11, between m
arkers D13S787 and D13S221; the other was located on bands 13q12.3-q13.1 fr
om markers D13S267 to D13S219. We observed higher allelic loss frequencies
for eight of the microsatellite markers in those patients with a family his
tory of upper gastrointestinal cancer compared to patients without such a h
istory. This study suggests that one or more unidentified tumor suppressor
genes are located on chromosome arm 13q that play a role in the development
of esophageal squamous cell carcinoma. (C) 2001 Wiley-Liss, Inc.