近日,，中科院上海生科院營(yíng)養(yǎng)科學(xué)研究所的王慧研究組在中國(guó)漢族女性乳腺癌和PALB2基因多態(tài)性之間的關(guān)聯(lián)研究取得新進(jìn)展,，其研究論文發(fā)表于《臨床癌癥研究》（Clinical Cancer Research (2008. Sep 15; 14 : 5931-37)）。
PALB2是重要抑癌基因BRCA2向細(xì)胞核內(nèi)的轉(zhuǎn)移定位及核內(nèi)穩(wěn)定的協(xié)同因子,，在保持基因組穩(wěn)定和調(diào)節(jié)細(xì)胞周期過程中起重要作用,。該基因發(fā)生突變能夠引起2倍于正常人群的乳腺癌發(fā)病率。該項(xiàng)研究與南京醫(yī)科大學(xué)沈洪兵教授研究組合作,，采用病例-對(duì)照(Case-Control)的研究方法，在1049例病人和1073例對(duì)照中首次發(fā)現(xiàn)PALB2基因上3個(gè)SNP位點(diǎn)rs249954,、rs120963和rs16940342和中國(guó)漢族女性乳腺癌的易感性相關(guān),。這為我國(guó)乳腺癌高危人群的篩選和預(yù)警提供了重要的理論依據(jù)。（生物谷Bioon.com）
生物谷推薦原始出處：
Clinical Cancer Research,，2008. Sep 15; 14 : 5931-37,，doi: 10.1158/1078-0432.CCR-08-0429
Association of Common PALB2 Polymorphisms with Breast Cancer Risk: A Case-Control Study
Peizhan Chen1, Jie Liang2, Zhanwei Wang2, Xiaoyi Zhou2, Lu Chen1, Mian Li1, Dong Xie1, Zhibin Hu2, Hongbing Shen2 and Hui Wang1
Authors' Affiliations: 1 Key Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences; Graduate School of the Chinese Academy of Sciences and 2 Laboratory of Reproductive Medicine, Cancer Center, Nanjing Medical University, Nanjing, China
Purpose: The PALB2 gene has an essential role in BRCA2-mediated DNA double-strand break repair and intra–S phase DNA damage checkpoint control, and its mutations are moderately associated with breast cancer susceptibility. This study was designed to investigate the common variants of PALB2 and their association with breast cancer risk.
Experimental Design: Four single nucleotide polymorphisms (SNP; rs249954, rs249935, rs120963, and rs16940342) which tagged all 19 of the reported SNPs (minor allele frequency >0.05) covering PALB2 were selected and genotyped in 1,049 patients with breast cancer and 1,073 cancer-free controls in a female Chinese population.
Results: Based on the multiple hypothesis testing with the Benjamini-Hochberg method, tagging SNPs (tSNP) rs249954, rs120963, and rs16940342 were found to be associated with an increase of breast cancer risk (false discovery rate–adjusted P values of 0.004, 0.028, and 0.049, respectively) under the dominant model. tSNP rs249954 was associated with a 36% increase of breast cancer risk [adjusted odds ratio (OR), 1.36; 95% confidence intervals (CI), 1.13-1.64; P = 0.001; TT/TC versus CC genotypes]. The adjusted OR for rs120963 was 1.25 (95% CI, 1.04-1.49; P = 0.014; CC/CT versus TT genotypes). For rs16940342, the adjusted OR was 1.21 (95% CI, 1.02-1.45; P = 0.037; GG/GA versus AA genotypes). Based on an additive model, tSNPs rs249954 and rs120963 were associated with an increase of breast cancer risk (P = 0.005 and 0.019; respectively), with the false discovery rate–adjusted P values being 0.020 and 0.038, respectively.
Conclusions: Our data suggest that the variants of PALB2 confer low-penetrance breast cancer susceptibility in a Chinese population.
