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

Breast Cancer Res Treat. 2009 Nov;118(1):151-9. doi: 10.1007/s10549-009-0317-1. Epub 2009 Feb 10.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 11 / ultrastructure
  • Chromosomes, Human, Pair 14 / ultrastructure
  • Female
  • Genes, Neoplasm*
  • Genetic Predisposition to Disease
  • Haplotypes / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lod Score
  • Microsatellite Repeats
  • Pedigree
  • Penetrance*
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • Translocation, Genetic