Characteristics Study On The Distribution Of CYP2D6 Gene Polymorphism Of Hormone Receptor Positive Breast Cancer Patientsin The West Of Sichuan Province

Objective:Toanalyse the distribution and mutation characteristics of CYP2D6 gene polymorphisms in the hormone receptor positive breast cancer patients in the west of Sichuan province.Methods:We collected 883 patients’ oral mucosafrom January 2011 to December 2015 diagnosed in Sichuan Provincial People’s Hospital, West China Hospital, Sichuan Province Cancer Hospital who will take tamoxifen therapy Taq Man-MG-B method was adopted to test CYP2D6 gene polymorphism. We use Hard-Weinberg genetic equilibrium test and c2 test to analysize the patients’ distribution of CYP2D6 gene polymorphism and the patients’ mutation characteristics.Results :The peak of age-specific incidence in 883 hormone receptor positive breast cancer patients in west of Sichuan province is 45- 55 years, accounted for 46. 43%. Premenopausal patients and postmenopausal patients accounted for 60.1% and 39.9% respectively, urban and rural patients accounted for 72.8% and 27.2% respectively, Han patients and ethnic minorities accounted for 93.5% and 6.5% respectively. The mutation frequency of CYP2D6*3, CYP2D6*4, CYP-2D6*7, CYP2D6*10, CYP2D6*41 was 0.56%, 0.88%, 0.99%, 76.56%, 5.89%. CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*17 was no mutant. CYP2D6*4 and CYP2D6 *10 meet Hardy-Wein berg equilibrium(P=0.636,P=0.756).The single nucleotide polymorphism of CYP2D6*10 had no revevance with patient’s age, menstruation status, urban/rural patients and race. CYP2D6*10 heterozygous mutation(C/T), CYP2D6*10 homozygous mutation(T/T) was 48.3%, 28.3%. CYP2D6*10 heterozygous mutation(C/T), CYP2D6*10 mutation homozygote type(T/T) was 0.22%, 0.66%.The frequency of CYP2D6*10 heterozygous mutation(C/T) and CYP2D6*10 homozygous mutation(T/T) was higher than CYP2D6*4, there was a significant difference(P=1.7×10-6, P=1.4×10-6, P=2.4×10-6).Conclusion :The frequency of CYP2D6*10 heterozygous mutation(C/T) and CYP2D6*10 homozygous mutation(T/T) was higher than CYP2D6*4, this study provided data for the following study on the relationship between the metabolism type and CYP2D6*10 gene polymorphism in patients with oral TAM.