title: The c.469+46_56del mutation in the homeobox MSX1 gene--a novel risk factor in breast cancer?
abstract: OBJECTIVE
  The aim of this study was to investigate the association of a 11 nucleotide deletion, the c.469+46_56del mutation, in the intron of the homeobox MSX1 gene and breast cancer occurrence and characteristics.
  
  
  METHODS
  The mutation was genotyped in peripheral blood lymphocytes of 200 breast cancer patients and 203 controls by single-strand conformational PCR and DNA sequencing.
  
  
  RESULTS
  The del/del variant of the c.469+46_56del mutation increased the risk of breast cancer occurrence (OR 2.20; 95% CI 1.41-3.44, p<0.05). We did not observe any association between genotypes of this mutation and lymph node status, Bloom-Richardson grading, estrogen and progesterone receptors and HER2 expression.
  
  
  CONCLUSIONS
  The del/del genotype of the c.469+46_56del mutation in the MSX1 gene may be associated with the increased risk of breast cancer in Polish population and may be considered as an early marker in this disease.
authors.affiliation: Department of Molecular Genetics, University of Lodz, Banacha 12/16, 90-237 Lodz, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Sliwinski
authors.forename: Ewelina
authors.initials: E
authors.lastname: Synowiec
authors.forename: Piotr
authors.initials: P
authors.lastname: Czarny
authors.forename: Paulina
authors.initials: P
authors.lastname: Gomulak
authors.forename: Ewa
authors.initials: E
authors.lastname: Forma
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Morawiec
authors.forename: Jan
authors.initials: J
authors.lastname: Morawiec
authors.forename: Lukasz
authors.initials: L
authors.lastname: Dziki
authors.forename: Maja
authors.initials: M
authors.lastname: Wasylecka
authors.forename: Janusz
authors.initials: J
authors.lastname: Blasiak
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D001943:Breast Neoplasms / Q000097:blood / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion
chemical_list: D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human