Deletion mapping and linkage analysis provide strong indication for the involvement of the human chromosome region 8p12-p22 in breast carcinogenesis.
We have identified a high frequency of loss of heterozygosity (LOH) on the human chromosome region 8p12-p22 in a panel of microdissected familial (86% LOH) and sporadic (74% LOH) breast tumours. The two most frequently deleted regions were defined around marker D8S133 and in a broader centromeric region bounded by markers D8S137 and D8S339. We cannot unequivocally characterize the 8p12-p22 loss as an early or a late event in breast carcinogenesis. In parallel, we have performed linkage analysis in four German breast cancer families. A location score greater than 13.67 corresponding to a LOD score of 2.97 at the marker D8S137 has been obtained. Our results considerably strengthen the evidence for a breast cancer susceptibility gene(s) located on the short arm of the chromosome region at 8p12-p22.
Seitz
S
S
Department of Tumour Genetics, Max Delbrueck Center for Molecular Medicine Berlin, Germany.
Rohde
K
K
Bender
E
E
Nothnagel
A
A
Pidde
H
H
Ullrich
O M
OM
El-Zehairy
A
A
Haensch
W
W
Jandrig
B
B
Kölble
K
K
Schlag
P M
PM
Scherneck
S
S
D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D019656:Loss of Heterozygosity; D018895:Microsatellite Repeats; D008875:Middle Aged