title: A common variant of CDKN2A (p16) predisposes to breast cancer.
abstract: BACKGROUND
  A common missense variant of the CDKN2A gene (A148T) predisposes to malignant melanoma in Poland. An association between malignant melanoma and breast cancer has been reported in several families with CDKN2A mutations,
  
  
  OBJECTIVE
  To determine whether this variant also predisposes to breast cancer.
  
  
  METHODS
  Genotyping was undertaken in 4209 cases of breast cancer, unselected for family history, from 18 hospitals throughout Poland and in 3000 controls.
  
  
  RESULTS
  The odds ratio (OR) associated with the CDKN2A allele for women diagnosed with breast cancer before the age of 50 was 1.5 (p = 0.002) and after age 50 it was 1.3 (p = 0.2). The effect was particularly strong for patients diagnosed at or before the age of 30 (OR = 3.8; p = 0.0002).
  
  
  CONCLUSIONS
  CDKN2A appears to be a low penetrance breast cancer susceptibility gene in Poland. The association should be confirmed in other populations.
authors.affiliation: Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland.
authors.forename: T
authors.initials: T
authors.lastname: Debniak
authors.forename: B
authors.initials: B
authors.lastname: Górski
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authors.initials: T
authors.lastname: Huzarski
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authors.initials: T
authors.lastname: Byrski
authors.forename: C
authors.initials: C
authors.lastname: Cybulski
authors.forename: A
authors.initials: A
authors.lastname: Mackiewicz
authors.forename: S
authors.initials: S
authors.lastname: Gozdecka-Grodecka
authors.forename: J
authors.initials: J
authors.lastname: Gronwald
authors.forename: E
authors.initials: E
authors.lastname: Kowalska
authors.forename: O
authors.initials: O
authors.lastname: Haus
authors.forename: E
authors.initials: E
authors.lastname: Grzybowska
authors.forename: M
authors.initials: M
authors.lastname: Stawicka
authors.forename: M
authors.initials: M
authors.lastname: Swiec
authors.forename: K
authors.initials: K
authors.lastname: Urbański
authors.forename: S
authors.initials: S
authors.lastname: Niepsuj
authors.forename: B
authors.initials: B
authors.lastname: Waśko
authors.forename: S
authors.initials: S
authors.lastname: Góźdź
authors.forename: P
authors.initials: P
authors.lastname: Wandzel
authors.forename: C
authors.initials: C
authors.lastname: Szczylik
authors.forename: D
authors.initials: D
authors.lastname: Surdyka
authors.forename: A
authors.initials: A
authors.lastname: Rozmiarek
authors.forename: O
authors.initials: O
authors.lastname: Zambrano
authors.forename: M
authors.initials: M
authors.lastname: Posmyk
authors.forename: S A
authors.initials: SA
authors.lastname: Narod
authors.forename: J
authors.initials: J
authors.lastname: Lubinski
mesh_terms: D000328:Adult; D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D005260:Female; D019942:Genes, p16; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D016017:Odds Ratio; D011044:Poland; D012306:Risk
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16