title: Study of ABCB1 polymorphism frequency in breast cancer patients from Poland.
abstract: BACKGROUND
  The accumulation of mutagenic substances in the human body may result in DNA metabolism disruption followed by carcinogenesis. As a consequence of mutations in the genes coding for transmembrane protein pumps, the intracellular concentration of xenobiotics may significantly increase. This, in turn, may provoke altered risk for cancer development. The gene known to be the most relevant in the transport of numerous compounds is ABCB1 (also known as MDR1). Numerous mutations and polymorphisms that affect the encoded protein's (PgP) function were identified in this gene. The aim of the study was to define the frequency of 2677G>A,T and 3435C>T polymorphisms in a population of Polish breast cancer patients and to estimate their contribution to cancer development.
  
  
  METHODS
  The polymorphism frequency analysis (209 patients vs. 202 control subjects) was performed either by allele-specific amplification (2677G>A,T) or by restriction fragment length polymorphism (RFLP) using the SAU3AI restriction enzyme (3435C>T) followed by verification with hybridization probe assays in a Real-Time system and sequencing.
  
  
  RESULTS
  In the control group the frequency of individual 2677 genotypes was: wild homozygous GG = 34%, heterozygous G/T or G/A = 52.5% and variant homozygous AA or TT = 13.5%, while the genotype frequency in the group of studied patients was 43.5, 44.5 and 12%, respectively. In the control group, the frequency of individual 3435 genotypes was: CC = 25.4%, CT = 50.2%, TT = 24.4%, while the genotype frequency in the group of studied patients was 23, 46 and 31%, respectively.
  
  
  CONCLUSIONS
  Thus, no significant differences in the studied polymorphism frequencies were observed. It is then suggested that the studied polymorphisms, although probably good candidates in other tissue cancer types, might not be good predictive factors in breast cancer risk or development in Caucasians.
authors: Poznań Department of Clinical Chemistry and Molecular Diagnostics, Poznań University of Medical Sciences, Przybyszewskiego 49, PL 60-355 Poznań, Poland.
authors: Błażej
authors: B
authors: Rubiś
authors: Hanna
authors: H
authors: Hołysz
authors: Wojciech
authors: W
authors: Barczak
authors: Robert
authors: R
authors: Gryczka
authors: Mariusz
authors: M
authors: Łaciński
authors: Paweł
authors: P
authors: Jagielski
authors: Anna
authors: A
authors: Czernikiewicz
authors: Anna
authors: A
authors: Półrolniczak
authors: Aneta
authors: A
authors: Wojewoda
authors: Katarzyna
authors: K
authors: Perz
authors: Paweł
authors: P
authors: Białek
authors: Karolina
authors: K
authors: Morze
authors: Zuzanna
authors: Z
authors: Kanduła
authors: Natalia
authors: N
authors: Lisiak
authors: Przemysław M
authors: PM
authors: Mrozikiewicz
authors: Sylwia
authors: S
authors: Grodecka-Gazdecka
authors: Maria
authors: M
authors: Rybczyńska
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D000368:Aged; D054458:Amplified Fragment Length Polymorphism Analysis; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D011044:Poland / Q000453:epidemiology; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011379:Prognosis; D060888:Real-Time Polymerase Chain Reaction; D012307:Risk Factors; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1