부산대학교 도서관

Byline: Juan Manuel Rosa-Rosa (1), Guillermo Pita (2), Anna Gonzalez-Neira (2), Roger L. Milne (2), Victoria Fernandez (1), Claudia Ruivenkamp (3), Christi J. Asperen (4), Peter Devilee (5), Javier Benitez (1,2,6) Keywords: Breast cancer; Linkage study; Haplotype; Singlepoint LOD score 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. Author Affiliation: (1) Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernandez Almagro 3, Madrid, 28029, Spain (2) Genotyping Unit (CeGen), Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain (3) Department of Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, The Netherlands (4) Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands (5) Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands (6) Centro de Investigaciones de Enfermedades Raras (CIBERER), Valencia, Spain Article History: Registration Date: 13/01/2009 Received Date: 15/10/2008 Accepted Date: 13/01/2009 Online Date: 10/02/2009 Article note: Electronic supplementary material The online version of this article (doi: 10.1007/s10549-009-0317-1) contains supplementary material, which is available to authorized users.