title: BARD1 and breast cancer in Poland.
abstract: OBJECTIVE
  To investigate whether or not a genetic variant in BARD1 (Cys557Ser) contributes to early-onset breast cancer in Poland, or modifies the risk of breast cancer in women with an inherited predisposition to breast cancer.
  
  
  METHODS
  We studied 3,188 unselected Polish women with breast cancer and 1,038 healthy controls. All women were genotyped for the BARD1 Cys557Ser variant and for known founder mutations in BRCA1 (three mutations), CHEK2 (four mutations), and NBS1 (one mutation).
  
  
  RESULTS
  A BARD1 variant was seen in 150 of 3,188 breast cancer cases (4.7%) and in 40 of 1,038 controls (3.8%) (OR = 1.2; 95% CI = 0.9-1.7). The risk associated with the BARD1 variant was not significantly greater in women with familial cancer (OR = 1.5; 95% CI = 0.8-2.7), or with an inherited mutation in BRCA1 (OR = 0.9; 95% CI = 0.4-2.2), CHEK2 (OR = 1.0; 95% CI = 0.5-2.1), or NBS1 (OR = 1.3; 95% CI = 0.2-10.2). Modest associations were observed among the subgroups of women with very early onset breast cancer (OR = 2.9; 95% CI = 1.2-7.1) and with medullary breast cancer (OR = 1.8; 95% CI = 0.9-3.7).
  
  
  CONCLUSIONS
  There was no clear association between the presence of the BARD1 Cys557Ser allele and breast cancer in Poland. Furthermore, the BARD1 Cys557Ser allele does not appear to modify the risk of breast cancers among carriers of BRCA1 mutations, or of other predisposing mutations. The allele may predispose to breast cancers of certain histologic subtypes, but further studies are needed to confirm these findings.
authors.affiliation: Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland. aniaj@sci.pam.szczecin.pl
authors.forename: Anna
authors.initials: A
authors.lastname: Jakubowska
authors.forename: Cezary
authors.initials: C
authors.lastname: Cybulski
authors.forename: Anna
authors.initials: A
authors.lastname: Szymańska
authors.forename: Tomasz
authors.initials: T
authors.lastname: Huzarski
authors.forename: Tomasz
authors.initials: T
authors.lastname: Byrski
authors.forename: Jacek
authors.initials: J
authors.lastname: Gronwald
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Debniak
authors.forename: Bohdan
authors.initials: B
authors.lastname: Górski
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Kowalska
authors.forename: Steven A
authors.initials: SA
authors.lastname: Narod
authors.forename: Jan
authors.initials: J
authors.lastname: Lubiński
mesh_terms: D000483:Alleles; D019313:BRCA1 Protein / Q000378:metabolism; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics / Q000378:metabolism*; D016022:Case-Control Studies; D018797:Cell Cycle Proteins / Q000378:metabolism; D064447:Checkpoint Kinase 2; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins / Q000378:metabolism; D016017:Odds Ratio; D011044:Poland; D017346:Protein Serine-Threonine Kinases / Q000378:metabolism; D012306:Risk; D012694:Serine / Q000737:chemistry; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics / Q000378:metabolism / Q000502:physiology*
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins; D025521:Tumor Suppressor Proteins; D012694:Serine; C102449:BARD1 protein, human; D044767:Ubiquitin-Protein Ligases; D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases