To identify chromosomal loci involved in the development of proximal g
astric adenocarcinoma, this study delineated the pattern of allelic im
balance in a series of 38 adenocarcinomas arising in the gastric cardi
a. A total of 137 microsatellite markers covering all autosomal arms,
excluding acrocentric arms, were analysed. A mean of 35 out of a total
of 39 chromosomal arms studied were informative for each patient. The
tumour group demonstrated a high level of allelic imbalance, with an
observed median fractional allelic imbalance of 0.47 for the 29 intest
inal-type adenocarcinomas and 0.54 for the nine diffuse-type adenocarc
inomas. Allelic imbalance was detected in >50% of informative cases in
both histological subtypes on a number of chromosomal arms. In the in
testinal subtype, these included, 3p (61%), 4q (71%), 5q (59%), 8p (60
%), 9p (65%), 9q (83%), 12q (52%), 13q (52%), 17p (78%) and 18q (70%).
A higher incidence of allelic imbalance was detected on chromosome 16
q in tumours of the diffuse type relative to those of the intestinal t
ype. A more detailed mapping on chromosomes 4q and 6q identified a num
ber of cases with subchromosomal breakpoints. In conclusion, this anal
ysis has indicated regions of the genome potentially involved in the d
evelopment of proximal gastric carcinomas.