中华实验外科杂志
中華實驗外科雜誌
중화실험외과잡지
CHINESE JOURNAL OF EXPERIMENTAL SURGERY
2015年
8期
1966-1969
,共4页
吴军%王晓丽%孙刚%马斌林
吳軍%王曉麗%孫剛%馬斌林
오군%왕효려%손강%마빈림
乳腺癌易感基因1交互作用蛋白1%单核苷酸多态性%遗传易感性%早发性乳腺癌
乳腺癌易感基因1交互作用蛋白1%單覈苷痠多態性%遺傳易感性%早髮性乳腺癌
유선암역감기인1교호작용단백1%단핵감산다태성%유전역감성%조발성유선암
Breast cancer susceptibility gene 1 interacting protein C-terminal helicase 1 gene%Single nucleotide polymorphism%Genetic susceptibility%Early-onset breast cancer
目的 探讨乳腺癌易感基因1(BRCA1)交互作用蛋白1(BRIP1)基因多态性与新疆汉族早发性乳腺癌的关系.方法 用直接测序法及Snapshot技术分别对新疆80例汉族乳腺癌(年龄≤40岁)和240例汉族健康女性(年龄≤40岁)进行外显子基因检测分析.结果 (1) rs4986764位点CC[优势比(OR)=0.094]、显性模型TC+ CC(OR =0.130)均可降低乳腺癌的发病风险(P＜0.05),此位点的保护作用在无肿瘤家族史者中更明显(P＜0.01,OR=0.079).(2)rs4986765、c.587A＞G位点突变在病例、对照组间差异均无统计学意义(P＞0.05).结论 BRIP1基因rs4986764突变降低新疆汉族早发性乳腺癌的发病风险,无肿瘤家族史可增加此位点的保护作用;rs4986765、c.587A＞G位点突变与新疆汉族早发性乳腺癌无明显相关.
目的 探討乳腺癌易感基因1(BRCA1)交互作用蛋白1(BRIP1)基因多態性與新疆漢族早髮性乳腺癌的關繫.方法 用直接測序法及Snapshot技術分彆對新疆80例漢族乳腺癌(年齡≤40歲)和240例漢族健康女性(年齡≤40歲)進行外顯子基因檢測分析.結果 (1) rs4986764位點CC[優勢比(OR)=0.094]、顯性模型TC+ CC(OR =0.130)均可降低乳腺癌的髮病風險(P＜0.05),此位點的保護作用在無腫瘤傢族史者中更明顯(P＜0.01,OR=0.079).(2)rs4986765、c.587A＞G位點突變在病例、對照組間差異均無統計學意義(P＞0.05).結論 BRIP1基因rs4986764突變降低新疆漢族早髮性乳腺癌的髮病風險,無腫瘤傢族史可增加此位點的保護作用;rs4986765、c.587A＞G位點突變與新疆漢族早髮性乳腺癌無明顯相關.
목적 탐토유선암역감기인1(BRCA1)교호작용단백1(BRIP1)기인다태성여신강한족조발성유선암적관계.방법 용직접측서법급Snapshot기술분별대신강80례한족유선암(년령≤40세)화240례한족건강녀성(년령≤40세)진행외현자기인검측분석.결과 (1) rs4986764위점CC[우세비(OR)=0.094]、현성모형TC+ CC(OR =0.130)균가강저유선암적발병풍험(P＜0.05),차위점적보호작용재무종류가족사자중경명현(P＜0.01,OR=0.079).(2)rs4986765、c.587A＞G위점돌변재병례、대조조간차이균무통계학의의(P＞0.05).결론 BRIP1기인rs4986764돌변강저신강한족조발성유선암적발병풍험,무종류가족사가증가차위점적보호작용;rs4986765、c.587A＞G위점돌변여신강한족조발성유선암무명현상관.
Objective To investigate the association between single nucleotide polymorphisms of breast cancer susceptibility gene 1 (BRCA1) interacting protein C-terminal helicase 1 (BRIP1) gene and early-onset breast cancer in Han nationality women in Xinjiang.Methods The BRIP1 gene exon sites were detected analyzed by DNA direct sequencing method and Snapshot genotyping technology in 80 cases of early-onset breast cancer and 240 normal cases of Han nationality women (≤40 years).Results (1) CC [odds ratio (OR) =0.094),and dominant model TC + CC (OR=0.130) of rs4986764 site significantly reduced the risk of breast cancer (P ＜ 0.05).Stratified analysis indicated that the protective effect of rs4986764 was more evident in subjects with negalive family history of cancer (P ＜ 0.01,OR =0.079).rs4986765,and mutation of c.587A ＞ G sites showed no statistically significant difference between case and control groups.Conclusion Variant of rs4986764 of BRIP1 gene is associated with significantly reduced risk of early-onset breast cancer in Han nationality women in Xinjiang.Negative family history of cancer can enhance the protective effect of mutant allele.rs4986765,and mutation of c.587A ＞ G had no significant association with risk of early-onset breast cancer in Han nationality women in Xinjiang.
