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01-11-2009 | Epidemiology

A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer

Authors: Juan Manuel Rosa-Rosa, Guillermo Pita, Anna González-Neira, Roger L. Milne, Victoria Fernandez, Claudia Ruivenkamp, Christi J. van Asperen, Peter Devilee, Javier Benitez

Published in: Breast Cancer Research and Treatment | Issue 1/2009

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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Title: A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer
Authors: Juan Manuel Rosa-Rosa
Guillermo Pita
Anna González-Neira
Roger L. Milne
Victoria Fernandez
Claudia Ruivenkamp
Christi J. van Asperen
Peter Devilee
Javier Benitez
Publication date: 01-11-2009
Publisher: Springer US
Published in: Breast Cancer Research and Treatment / Issue 1/2009
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-009-0317-1

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