Abstract
Familial breast cancer represents up to 5% of all breast cancer cases. Recently, our group has performed a new SNP-based linkage study in 19 non-BRCA1/2 families. We found that a single family was linked to regions in two different chromosomes (11q13 and 14q21), and observed a non-parametric LOD score of 11.5 in both regions. In the present study, we ruled out any possible translocation between the chromosomes. We also used both a panel of STRs and an indirect approach based on HapMap data to narrow down these regions from 28 to 7 Mb in chromosome 11 and from 14.5 to 8.5 Mb in chromosome 14. We performed a mutational screening on candidate genes in 11q13 (NUMA1, FGF3, CCND1, RAD9A, RNF121, FADD and hsa-mir-192), and on FOXA1 in 14q21. Although we have not found any deleterious mutations in the coding region of these genes, data from STR markers confirm 11q13 as a candidate region to contain a breast cancer susceptibility gene.
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Acknowledgments
We thank David Rodriguez from the Genomics Unit at the Spanish National Cancer Research Centre, for his technical support in sequencing. We also thank Lorenzo Melchor and Ricardo Ramires from the Human Genetics Group for their scientific support and advice. This study has been funded by project FIS-04-2240 from the Fondo de Investigaciones Sanitarias, and by the Asociación Española Contra el Cáncer. JMRR Grant sponsor: Ministerio de Educacion y Ciencia, FPU AP-2005-1720.
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Rosa-Rosa, J.M., Pita, G., González-Neira, A. et al. A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer. Breast Cancer Res Treat 118, 151–159 (2009). https://doi.org/10.1007/s10549-009-0317-1
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DOI: https://doi.org/10.1007/s10549-009-0317-1