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题目:: A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer.
作者:: Rosa-Rosa(Juan Manuel),Pita(Guillermo),González-Neira(Anna),Milne(Roger L),Fernandez(Victoria),Ruivenkamp(Claudia),van Asperen(Christi J),Devilee(Peter),Benitez(Javier)
状态:: 发布时间2009-10-13 , 更新时间 2009-10-13
期刊:: Breast Cancer Res Treat
摘要:: 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.
语言:: eng
DOI:: 10.1007/s10549-009-0317-1

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