Linkage analysis and allelic imbalance in human breast cancer kindreds using microsatellite markers from the short arm of chromosome 3

• Main Authors: Sigurður Ingvarsson 1956-, Jón Þór Bergþórsson 1966-, Guðný Eiríksdóttir 1950-, Rósa Björk Barkardóttir 1958-, Valgarður Egilsson 1940-, Aðalgeir Arason 1957-
• Other Authors: Háskóli Íslands
• Format: Article in Journal/Newspaper
• Language: English
• Published: 1995
• Subjects: Brjóstakrabbamein; Iceland
• Online Access: http://hdl.handle.net/1946/20713

Eight Icelandic breast cancer kindreds were subjected to linkage analyses with respect to 28 microsatellite loci dispersed along the short arm of chromosome 3. Breast tumors derived from these kindreds were concurrently scored for allelic imbalance with ten of the markers. Linkage to most markers could be excluded on the basis of negative LOD scores and haplotype analyses, although some moderately positive LOD scores resulted. A high frequency of imbalance in the familial tumors was seen with two of the markers in comparison with results obtained from sporadic material. The highest frequency (68%) of imbalance was detected with the marker D3S1217, which is located on 3p14.2-p14.1. Imbalance at the D3S1211 locus, which is more telomeric (3p24.2-p22), was not significantly elevated in the familial tumors. We suggest that the genetic defect responsible for breast cancer susceptibility in these families either promotes instability in the 3p14.2-p14.1 region or enhances the selective advantage of such changes. The Nordic primer bank that provided the microsatellite markers is supported by the Nordic Council of Ministers. This work was supported by the Nordic Cancer Union, Icelandic Cancer Society, the Science Fund of Iceland, the University of Iceland Research Fund the Science Fund of the University Hospital of Iceland and the Memorial Fund of Bergthora Magnusdottir and Jakob B. Bjarnason.