title: A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer.
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.
authors.affiliation: Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernandez Almagro 3, Madrid, 28029, Spain.
authors.forename: Juan Manuel
authors.initials: JM
authors.lastname: Rosa-Rosa
authors.forename: Guillermo
authors.initials: G
authors.lastname: Pita
authors.forename: Anna
authors.initials: A
authors.lastname: González-Neira
authors.forename: Roger L
authors.initials: RL
authors.lastname: Milne
authors.forename: Victoria
authors.initials: V
authors.lastname: Fernandez
authors.forename: Claudia
authors.initials: C
authors.lastname: Ruivenkamp
authors.forename: Christi J
authors.initials: CJ
authors.lastname: van Asperen
authors.forename: Peter
authors.initials: P
authors.lastname: Devilee
authors.forename: Javier
authors.initials: J
authors.lastname: Benitez
mesh_terms: D000483:Alleles; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics* / Q000648:ultrastructure; D002883:Chromosomes, Human, Pair 14 / Q000648:ultrastructure; D005260:Female; D052138:Genes, Neoplasm; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008126:Lod Score; D018895:Microsatellite Repeats; D010375:Pedigree; D019683:Penetrance; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D014178:Translocation, Genetic