Association between a single nucleotide polymorphism in PALB2 rs249954 and breast cancer: a meta-analysis_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

WU Yayun , WANG Jin , DONG Xiaoqiang , HE Songbing ,  ZHAO Xin

Department of General Surgery, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, P. R. China;

Corresponding author：

ZHAO Xin, Email: zhaox@suda.edu.cn

Keywords：

breast cancer; PALB2 gene; rs249954 loci; polymorphism; meta-analysis

DOI：

10.7507/1007-9424.201703024

Video：

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ObjectiveTo explore the association between a single nucleotide polymorphism in PALB2 rs249954 and breast cancer.MethodsStudies regarding the association between a single nucleotide polymorphism in PALB2 rs249954 and breast cancer were searched from CNKI, WanFang, CBM, PubMed, Embase, Cochrane Library, Science Direct, and Web of Science. The eligible studies were screened based on the inclusion, exclusion criteria, and principle of quality evaluating. Meta-analysis and the assessment of published bias were performed by Stata 14.0 software.ResultsA total of 7 studies were eligible for this study, including 3 247 cumulative cases of breast cancer and 3 294 controls. Through the comparison of a variety of genetic models, we found that there was no significant for the OR of additive model〔T vs C: OR=1.14, 95% CI was (0.95, 1.37), P=0.156〕 , dominant gene model〔CT+TT vs CC: OR=1.22, 95% CI was (0.97, 1.54), P=0.088〕 , recessive gene model〔TT vs CT+CC: OR=1.11, 95% CI was (0.84, 1.45), P=0.464〕 , codominant gene model CC vs TT and TT vs CT〔 OR=0.79, 95% CI was (0.54, 1.15), P=0.226; OR=0.95, 95% CI was (0.82, 1.11), P=0.523〕 ; there was significant difference for codominant gene model CC vs CT〔OR=0.82, 95% CI was (0.67, 1.00), P=0.048〕 , but the conclusion was different after sensitivity analysis. Besides, there was notable difference for overdominant model〔CC+TT vs CT: OR=0.85, 95% CI was (0.77, 0.94), P=0.001〕 .ConclusionThe mutant genotype heterozygous (CT) of rs249954 in PALB2 will increase the breast cancer risk.

Citation： WU Yayun, WANG Jin, DONG Xiaoqiang, HE Songbing, ZHAO Xin. Association between a single nucleotide polymorphism in PALB2 rs249954 and breast cancer: a meta-analysis. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2017, 24(9): 1112-1121. doi: 10.7507/1007-9424.201703024 Copy

1.	Dubey AK, Gupta U, Jain S. Breast cancer statistics and prediction methodology: a systematic review and analysis. Asian Pac J Cancer Prev, 2015, 16(10): 4237-4245.
2.	Torre LA, Bray F, Siegel RL, et al. Global cancer statistics, 2012. CA Cancer J Clin, 2015, 65(2): 87-108.
3.	Chen W, Zheng R, Baade PD, et al. Cancer statistics in China, 2015. CA Cancer J Clin, 2016, 66(2): 115-132.
4.	Sankaranarayanan R. Cancer survival in Africa, Asia, the Caribbean and Central America. Introduction. IARC Sci Publ, 2011, (162): 1-5.
5.	Southey MC, Winship I, Nguyen-Dumont T. PALB2: research reaching to clinical outcomes for women with breast cancer. Hered Cancer Clin Pract, 2016, 14: 9.
6.	Kipen VN, Melnov SB, Smolyakova RM. The role of XRCC1, XRCC3 and PALB2 genes in the genesis of breast cancer. Ecol Genet, 2015, 13(4): 91-98.
7.	Chen P, Liang J, Wang Z, et al. Association of common PALB2 polymorphisms with breast cancer risk: a case-control study. Clin Cancer Res, 2008, 14(18): 5931-5937.
8.	谷鸿秋, 王杨, 李卫. Cochrane 偏倚风险评估工具在随机对照研究 Meta 分析中的应用. 中国循环杂志, 2014, 29(2): 147-148.
9.	张天嵩, 钟文昭, 李博, 等. 实用循证医学方法学. 第 2 版. 长沙: 中南大学出版社, 2014: 102-112.
10.	宋传贵, 傅芳萌, 吴雪英, 等. PALB2 基因遗传多态性在早发性乳腺癌中的作用. 中国癌症杂志, 2010, 20(12): 907-910.
11.	陈飞宇. FANCD2 通路乳腺癌遗传易感基因 SNP 与乳腺癌发病风险的关联分析. 长沙: 中南大学, 2013.
12.	董永康, 吴雪琴, 谢军. PALB2 基因单核苷酸多态性与乳腺癌易感性的相关性. 临床检验杂志, 2015, 33(10): 769-772.
13.	Guénard F, Pedneault CS, Ouellette G, et al. Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. Genet Test Mol Biomarkers, 2010, 14(4): 515-526.
14.	Cao AY, Yu KD, Yin WJ, et al. Five common single nucleotide polymorphisms in the PALB2 gene and susceptibility to breast cancer in eastern Chinese population. Breast Cancer Res Treat, 2010, 123(1): 133-138.
15.	Jiang W, Zhuang C, Zheng L, et al. Role of PALB2 polymorphisms with regard to susceptibility to female breast cancer risk in the Chinese population. Genet Test Mol Biomarkers, 2016, 20(5): 229-234.
16.	Rahman N, Seal S, Thompson D, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet, 2007, 39(2): 165-167.
17.	Tischkowitz M, Xia B, Sabbaghian N, et al. Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci U S A, 2007, 104(16): 6788-6793.
18.	Xia B, Sheng Q, Nakanishi K, et al. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell, 2006, 22(6): 719-729.
19.	Li J, Meeks H, Feng BJ, et al. Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. J Med Genet, 2016, 53(1): 34-42.
20.	Meindl A, Ramser J, Hauke J, et al. Genetic aspects of hereditary breast and ovarian cancer: options and limits. Med Genet Berlin, 2015, 27(2): 202-210.
21.	Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med, 2014, 371(6): 497-506.
22.	Nakagomi H, Sakamoto I, Hirotsu Y, et al. Analysis of PALB2 mutations in 155 Japanese patients with breast and/or ovarian cancer. Int J Clin Oncol, 2016, 21(2): 270-275.
23.	Han M, Shu X, Cai Q, et al. Evaluation of genetic variants in high and moderate-penetrance breast cancer susceptibility genes in East Asians. Cancer Res, 2015, 75(15): 2780.
24.	Leyton Y, Gonzalez-Hormazabal P, Blanco R, et al. Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population. BMC Cancer, 2015, 15: 30.
25.	Cecener G, Guney Eskiler G, Egeli U, et al. Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey. Mol Biol Rep, 2016, 43(11): 1273-1284.
26.	Nguyen-Dumont T, Mahmoodi M, Hammet F, et al. Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots. Anal Biochem, 2015, 470: 48-51.
27.	Thompson ER, Gorringe KL, Rowley SM, et al. Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. Breast Cancer Res, 2015, 17: 111.

1. Dubey AK, Gupta U, Jain S. Breast cancer statistics and prediction methodology: a systematic review and analysis. Asian Pac J Cancer Prev, 2015, 16(10): 4237-4245.
2. Torre LA, Bray F, Siegel RL, et al. Global cancer statistics, 2012. CA Cancer J Clin, 2015, 65(2): 87-108.
3. Chen W, Zheng R, Baade PD, et al. Cancer statistics in China, 2015. CA Cancer J Clin, 2016, 66(2): 115-132.
4. Sankaranarayanan R. Cancer survival in Africa, Asia, the Caribbean and Central America. Introduction. IARC Sci Publ, 2011, (162): 1-5.
5. Southey MC, Winship I, Nguyen-Dumont T. PALB2: research reaching to clinical outcomes for women with breast cancer. Hered Cancer Clin Pract, 2016, 14: 9.
6. Kipen VN, Melnov SB, Smolyakova RM. The role of XRCC1, XRCC3 and PALB2 genes in the genesis of breast cancer. Ecol Genet, 2015, 13(4): 91-98.
7. Chen P, Liang J, Wang Z, et al. Association of common PALB2 polymorphisms with breast cancer risk: a case-control study. Clin Cancer Res, 2008, 14(18): 5931-5937.
8. 谷鸿秋, 王杨, 李卫. Cochrane 偏倚风险评估工具在随机对照研究 Meta 分析中的应用. 中国循环杂志, 2014, 29(2): 147-148.
9. 张天嵩, 钟文昭, 李博, 等. 实用循证医学方法学. 第 2 版. 长沙: 中南大学出版社, 2014: 102-112.
10. 宋传贵, 傅芳萌, 吴雪英, 等. PALB2 基因遗传多态性在早发性乳腺癌中的作用. 中国癌症杂志, 2010, 20(12): 907-910.
11. 陈飞宇. FANCD2 通路乳腺癌遗传易感基因 SNP 与乳腺癌发病风险的关联分析. 长沙: 中南大学, 2013.
12. 董永康, 吴雪琴, 谢军. PALB2 基因单核苷酸多态性与乳腺癌易感性的相关性. 临床检验杂志, 2015, 33(10): 769-772.
13. Guénard F, Pedneault CS, Ouellette G, et al. Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. Genet Test Mol Biomarkers, 2010, 14(4): 515-526.
14. Cao AY, Yu KD, Yin WJ, et al. Five common single nucleotide polymorphisms in the PALB2 gene and susceptibility to breast cancer in eastern Chinese population. Breast Cancer Res Treat, 2010, 123(1): 133-138.
15. Jiang W, Zhuang C, Zheng L, et al. Role of PALB2 polymorphisms with regard to susceptibility to female breast cancer risk in the Chinese population. Genet Test Mol Biomarkers, 2016, 20(5): 229-234.
16. Rahman N, Seal S, Thompson D, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet, 2007, 39(2): 165-167.
17. Tischkowitz M, Xia B, Sabbaghian N, et al. Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci U S A, 2007, 104(16): 6788-6793.
18. Xia B, Sheng Q, Nakanishi K, et al. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell, 2006, 22(6): 719-729.
19. Li J, Meeks H, Feng BJ, et al. Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. J Med Genet, 2016, 53(1): 34-42.
20. Meindl A, Ramser J, Hauke J, et al. Genetic aspects of hereditary breast and ovarian cancer: options and limits. Med Genet Berlin, 2015, 27(2): 202-210.
21. Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med, 2014, 371(6): 497-506.
22. Nakagomi H, Sakamoto I, Hirotsu Y, et al. Analysis of PALB2 mutations in 155 Japanese patients with breast and/or ovarian cancer. Int J Clin Oncol, 2016, 21(2): 270-275.
23. Han M, Shu X, Cai Q, et al. Evaluation of genetic variants in high and moderate-penetrance breast cancer susceptibility genes in East Asians. Cancer Res, 2015, 75(15): 2780.
24. Leyton Y, Gonzalez-Hormazabal P, Blanco R, et al. Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population. BMC Cancer, 2015, 15: 30.
25. Cecener G, Guney Eskiler G, Egeli U, et al. Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey. Mol Biol Rep, 2016, 43(11): 1273-1284.
26. Nguyen-Dumont T, Mahmoodi M, Hammet F, et al. Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots. Anal Biochem, 2015, 470: 48-51.
27. Thompson ER, Gorringe KL, Rowley SM, et al. Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. Breast Cancer Res, 2015, 17: 111.

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Association between a single nucleotide polymorphism in PALB2 rs249954 and breast cancer: a meta-analysis

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