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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | White, I. Sandelin, K. Dumanski, J. Nordenskjöld, M. Larsson, C. Lindblom, A. Iselius, L. |
| Spatial Coverage | Sweden |
| Description | Author Affiliation: Lindblom A ( Department of Clinical Genetics, Karolinska Hospital, Stockholm.) |
| Abstract | A translocation between the long arms of chromosomes 11 and 22, t(11;22)(q23;q11), is the most frequent constitutional reciprocal translocation in man. This chromosome abnormality has not previously been reported to be associated with an increased risk for neoplasia. The observation of one patient with a constitutional translocation t(11q;22q) and breast cancer prompted us to study the relationship between these two conditions. The incidence of breast cancer was determined in carriers of t(11q;22q). The karyotypes were determined by QFQ-banding, and the breakpoints were then further characterized by fluorescent in situ hybridization. Eight families with a total of 22 balanced carriers were found. In five of these families there was one case of breast cancer each. In another family a case of an unknown malignancy was reported in one member. No other malignancies were found among these patients. The number of breast cancer cases was significantly higher than expected among the translocation carriers (P < .001). The chromosomal breakpoints showed the same localization with the markers used, in the seven families studied. The association of constitutional translocation t(11q;22q) and breast cancer identifies a subset of patients with a highly increased risk for breast cancer who would benefit from counseling and screening. It also suggests the involvement of genes on 11q and/or 22q, in the tumorigenesis of breast cancer. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 5 |
| Volume Number | 54 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1994-05-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Breast Neoplasms Genetics Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 22 Heterozygote Detection Translocation, Genetic Epidemiology Chromosome Mapping Cosmids Fibroblasts Pathology In Situ Hybridization, Fluorescence Lymphocytes Cytology Polymerase Chain Reaction Sweden Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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