High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11).
In a family with a high incidence of postmenopausal breast cancer and a case of glioblastoma, the constitutional translocation t(11;22)(q23;q11.2) was shown to segregate with the malignancies. The breakpoints in this family coincided with the common breakpoints in t(11;22) as shown by a translocation-specific PCR assay. Loss of heterozygosity analysis of breast tumor tissue revealed deletion of the normal chromosome 22, but retention of der(22) in the tumor cells, suggesting a predisposing effect of the der(22) for breast and brain tumor development in this family.
Wieland
Ilse
I
Institut für Humangenetik, Otto-von-Guericke-Universität, Magdeburg, Germany.
Muschke
Petra
P
Volleth
Marianne
M
Röpke
Albrecht
A
Pelz
Antje-Friederike
AF
Stumm
Markus
M
Wieacker
Peter
P
D000328:Adult; D000368:Aged; D001932:Brain Neoplasms / Q000150:complications / Q000235:genetics; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015994:Incidence; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014178:Translocation, Genetic