Tyrer-Cuzick模型聯合SNPs位點在江西地區乳腺癌診斷中應用研究

張樂 徐勝昔 郭翔取 張利群

摘 ? 要：目的 ?探討Tyrer-Cuzick模型聯合SNPs位點在江西地區乳腺癌診斷中的應用價值。方法 ?選取2016年1月～2017年12月我院收治的乳腺癌患者150例作為A組，選擇同期乳腺良性腫瘤患者130例作為B組。采用病史采集回顧性分析，使用Gail及Tyrer-Cuzick模型計算乳腺癌患病風險值，比較兩者的風險值的靈敏度、準確度，繪制ROC曲線圖，比較曲線下面積。使用PCR測序法統計FGFR2基因rs2981582位點基因分型的數目及頻率，采用非條件Logist回歸分析結果。結果 ?Tyrer -Cuzick模型應用于風險評估的敏感度66.00%，特異度86.92%，陽性預測值為85.34%，陰性預測值68.90%; 其ROC曲線下面積0.786大于Gail模型的0.665，差異有統計學意義（P<0.001）;FGFR2基因rs2981582位點在A組基因型CC、CT、TT的分布頻率分別為44.00%、43.33%、12.67%，在B組基因型CC、CT、TT的頻率分別為38.46%、38.46%、23.08%。結論 ?Tyrer-Cuzick模型聯合rs2981582位點可用于江西地區乳腺癌篩查和診斷，不失為一種新方法，且TT基因型可能增加江西地區乳腺癌患病風險。

關鍵詞：Tyrer-Cuzick模型;SNPs位點;乳腺癌

中圖分類號：R737.9;R445.1 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 文獻標識碼：A ? ? ? ? ? ? ? ? ? ? ? ?DOI：10.3969/j.issn.1006-1959.2018.24.038

文章編號：1006-1959（2018）24-0131-03

Abstract：Objective ?To investigate the value of Tyrer-Cuzick model combined with SNPs in the diagnosis of breast cancer in Jiangxi. Methods ?From January 2016 to December 2017， 150 patients with breast cancer admitted to our hospital were selected as group A， and 130 patients with benign breast tumors were selected as group B. Retrospective analysis of medical history was used to calculate the risk value of breast cancer using Gail and Tyrer-Cuzick models. The sensitivity and accuracy of the risk values were compared. ROC curves were drawn and the area under the curve was compared. The number and frequency of FGFR2 gene rs2981582 genotyping in the two groups were counted by PCR sequencing， and the results were analyzed by unconditional Logist regression. Results ?The sensitivity of the Tyrer-Cuzick model was 66.00%， the specificity was 86.92%， the positive predictive value was 85.34%， and the negative predictive value was 68.90%. The area under the ROC curve was 0.786， which was larger than 0.665 of the Gail model，the difference was statistically significant（P<0.001）; the distribution frequency of FGFR2 gene rs2981582 in group A genotype CC， CT， TT was 44.00%， 43.33%， 12.67%， respectively. The frequency of group B genotype CC， CT， TT was 38.46. %， 38.46%， and 23.08%.Conclusion ?Tyrer-Cuzick model combined with rs2981582 can be used for breast cancer screening and diagnosis in Jiangxi， which is a new method， and TT genotype may increase the risk of breast cancer in Jiangxi.

Key words：Tyrer-Cuzick model;SNPs locus;Breast cancer

在我國罹患乳腺癌的婦女死亡率呈逐年上升趨勢。及早對女性進行乳腺癌風險評估，提高乳腺癌早期檢出率是關鍵。而乳腺癌預測模型及SNP（single nucleotide polymorphism）是目前研究的熱點。本文旨在將Tyrer-Cuzick模型與江西地區亞裔婦女乳腺癌易感基因的SNP位點結合應用在乳腺癌風險評估中，以期建立一個新的風險評估形式。

1 資料與方法

1.1一般資料 ?選擇2016年1月～2017年12月南昌大學附屬九江市第一人民醫院女性乳腺癌接受手術治療的患者150例作為A組，患者術前未接受化療或放療，年齡 35～69歲，平均年齡（51.02±4.63）;選擇同期乳腺良性腫瘤女性患者130例作為B組，患者無惡性腫瘤病史，年齡 35～69歲，平均年齡（52.78±5.01），本研究經本院倫理委員會審批通過。

1.2提取數據 ?收集上述病例相關危險因素信息，分別應用Gail模型和Tyrer-Cuzick模型回顧性計算280例婦女未來5年患癌風險值。……