Background: The aim of this study was to investigate the association between LAPTM4B gene polymorphism and the risk of breast cancer among Egyptian female patients. Also, measurement was done of its serum level to evaluate its significance as a diagnostic marker for breast cancer.
Methods: This case control study was done on 88 breast cancer patients, 40 with fibroadenoma and 80 healthy subjects. Genotyping of the LAPTM4B polymorphism was determined by PCR. Serum LAPTM4B level was measured using ELISA.
Results: There was a significant difference in the (*1/2+ *2/2) genotypes in breast cancer patients (59.1) compared to the control subjects (43.8%) (P=0.047; OR=1.86; 95% CI =1.01-3.43). The frequency of the allele 2* of the LAPTM4B gene was significantly higher in breast cancer patients (36.4%) than in the control (25.6%) (p=0.034; OR=1.66; 95% CI =1.04-2.65). Genotypes (*1/2+*2/2) were significantly associated with the differential classification of TNM. Serum level of LAPTM4B was significantly higher in breast cancer patients than in control and fibroadenoma and in fibroadenoma patients than in control. In breast cancer patients, serum LAPTM4B was significantly higher in stage III and in large tumor size. Serum LAPTM4B was significantly higher in the cancer patients' genotypes (*1/2+*2/2).
Conclusions: Genetic polymorphism of LAPTM4B is a potential risk factor for the development of breast cancer. Serum LAPTM4B may be used as a diagnostic and prognostic marker for breast cancer.
Uvod: Cilj studije bio je da se ispita povezanost između polimorfizma gena LAPTM4B i rizika od kancera dojke kod egipatskih pacijentkinja. Izmereni su i nivoi ovog gena u serumu kako bi se utvrdio uticaj koji on ima kao dijagnostički marker za kancer dojke.
Metode: Ova anamnestička studija obuhvatila je 88 pacijentkinja sa kancerom dojke, 40 obolelih od fibroadenoma i 80 zdravih ispitanica. Genotipizacija polimorfizma LAPTM4B obavljena je tehnikom PCR. Nivo LAPTM4B u serumu je izmeren pomoću ELISA.
Rezultati: Pronađena je značajna razlika u genotipovima (*1/2+*2/2) kod obolelih od kancera dojke (59,1) u poređenju s kontrolnim ispitanicama (43,8%) (P=0,047; OR=1,86; 95% CI =1,01–3,43). Učestalost alela 2* gena LAPTM4B bila je značajno veća kod obolelih od kancera dojke (36,4%) nego u kontrolnoj grupi (25,6%) (p=0,034; OR=1,66; 95% CI=1,04–2,65). Genotipovi (*1/2+*2/2) bili su značajno povezani sa diferencijalnom klasifikacijom TNM. Nivo LAPTM4B u serumu bio je značajno viši kod obolelih od kancera dojke nego u kontrolnoj i grupi sa fibroadenomom, kao i kod obolelih od fibroadenoma u poređenju s kontrolom. Kod obolelih od kancera dojke, LAPTM4B u serumu je bio značajno viši u slučajevima tumora III klase i tumora velikih dimenzija. LAPTM4B u serumu je bio značajno viši u (*1/2+*2/2) genotipovima obolelih od kancera.
Zaključak: Polimorfizam gena LAPTM4B potencijalni je faktor rizika za razvoj raka dojke. LAPTM4B u serumu može se koristiti kao dijagnostički i prognostički marker za kancer dojke.
Keywords: LAPTM4B; breast cancer; fibroadenoma.