收稿日期: 2022-06-25
网络出版日期: 2022-10-14
基金资助
国家自然科学基金(81872382);国家自然科学基金(81672790);国家自然科学基金(81171961)
方伟岗 , 田新霞 , 解云涛 . 基因多态性对中国汉族女性乳腺癌遗传易感性的影响[J]. 北京大学学报(医学版), 2022 , 54(5) : 822 -828 . DOI: 10.19723/j.issn.1671-167X.2022.05.007
| 1 | Britt KL , Cuzick J , Phillips KA . Key steps for effective breast cancer prevention[J]. Nat Rev Cancer, 2020, 20 (8): 417- 436. |
| 2 | Fanfani V , Zatopkova M , Harris AL , et al. Dissecting the heritable risk of breast cancer: from statistical methods to susceptibility genes[J]. Semin Cancer Biol, 2021, 72, 175- 184. |
| 3 | Lilyquist J , Ruddy KJ , Vachon CM , et al. Common genetic variation and breast cancer risk: past, present, and future[J]. Cancer Epidemiol Biomarkers Prev, 2018, 27 (4): 380- 394. |
| 4 | Marian AJ . Molecular genetic studies of complex phenotypes[J]. Transl Res, 2012, 159 (2): 64- 79. |
| 5 | Genomes-Project C , Abecasis GR , Auton A , et al. An integrated map of genetic variation from 1, 092 human genomes[J]. Nature, 2012, 491 (7422): 56- 65. |
| 6 | Gabriel SB , Schaffner SF , Nguyen H , et al. The structure of haplotype blocks in the human genome[J]. Science, 2002, 296 (5576): 2225- 2229. |
| 7 | Daly MJ , Rioux JD , Schaffner SF , et al. High-resolution haplotype structure in the human genome[J]. Nat Genet, 2001, 29 (2): 229- 232. |
| 8 | Stadler ZK , Thom P , Robson ME , et al. Genome-wide association studies of cancer[J]. J Clin Oncol, 2010, 28 (27): 4255- 4267. |
| 9 | Ruan Y , Song AP , Wang H , et al. Genetic polymorphisms in Aurora-A and BRCA1 are associated with breast cancer susceptibility in a Chinese Han population[J]. J Pathol, 2011, 225 (4): 535- 543. |
| 10 | Wang H , Xie YT , Han JY , et al. Genetic polymorphisms in centrobin and Nek2 are associated with breast cancer susceptibility in a Chinese Han population[J]. Breast Cancer Res Treat, 2012, 136 (1): 241- 251. |
| 11 | Han JY , Wang H , Xie YT , et al. An association study of germline polymorphisms in CCNE1 and CDK2 with breast cancer risk, tumor characteristics and survival in a Chinese Han population[J]. PLoS One, 2012, 7 (11): e49296. |
| 12 | Zhou YT , Zheng LY , Wang YJ , et al. Effect of functional variant rs11466313 on breast cancer susceptibility and TGFB1 promoter activity[J]. Breast Cancer Res Treat, 2020, 184 (1): 237- 248. |
| 13 | Li Y , Chen YL , Xie YT , et al. Association study of germline variants in CCNB1 and CDK1 with breast cancer susceptibility, progression and survival among Chinese Han women[J]. PLoS One, 2013, 8 (12): e84489. |
| 14 | 陈奕霖, 贾玉棉, 解云涛, 等. PAI-1基因单核苷酸多态性与乳腺癌易感性及预后的关联分析[J]. 中华病理学杂志, 2016, 45 (8): 533- 539. |
| 15 | Yang H , Ting X , Geng YH , et al. A risk variant rs11836367 contributes to breast cancer onset and metastasis by attenuating Wnt signaling via regulating NTN4 expression[J]. Sci Advs, 2022, 8 (23): eabn3509. |
| 16 | Baynes C , Healey CS , Pooley KA , et al. Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk[J]. Breast Cancer Res, 2007, 9 (2): R27. |
| 17 | Bonnen PE , Wang PJ , Kimmel M , et al. Haplotype and linkage disequilibrium architecture for human cancer-associated genes[J]. Genome Res, 2002, 12 (12): 1846- 1853. |
| 18 | Naso FD , Boi D , Ascanelli C , et al. Nuclear localisation of Aurora-A: its regulation and significance for Aurora-A functions in cancer[J]. Oncogene, 2021, 40 (23): 3917- 3928. |
| 19 | Sun T , Miao X , Wang J , et al. Functional Phe31Ile polymorphism in Aurora A and risk of breast carcinoma[J]. Carcinogenesis, 2004, 25 (11): 2225- 2230. |
| 20 | Lo YL , Yu JC , Chen ST , et al. Breast cancer risk associated with genotypic polymorphism of the mitosis-regulating gene Aurora-A/STK15/BTAK[J]. Int J Cancer, 2005, 115 (2): 276- 283. |
| 21 | Zou C , Li J , Bai Y , et al. Centrobin: a novel daughter centriole-associated protein that is required for centriole duplication[J]. J Cell Biol, 2005, 171 (3): 437- 445. |
| 22 | Olson JE , Wang X , Pankratz VS , et al. Centrosome-related genes, genetic variation, and risk of breast cancer[J]. Breast Cancer Res Treat, 2011, 125 (1): 221- 228. |
| 23 | Jeong Y , Lee J , Kim K , et al. Characterization of NIP2/centrobin, a novel substrate of Nek2, and its potential role in microtubule stabilization[J]. J Cell Sci, 2007, 120 (12): 2106- 2116. |
| 24 | Quan L , Gong Z , Yao S , et al. Cytokine and cytokine receptor genes of the adaptive immune response are differentially associated with breast cancer risk in American women of African and European ancestry[J]. Int J Cancer, 2014, 134 (6): 1408- 1421. |
| 25 | Cox DG , Penney K , Guo Q , et al. TGFB1 and TGFBR1 polymorphisms and breast cancer risk in the Nurses' Health Study[J]. BMC Cancer, 2007, 7, 175. |
| 26 | Healy J , Dionne J , Bélanger H , et al. Functional impact of sequence variation in the promoter region of TGFB1[J]. Int J Cancer, 2009, 125 (6): 1483- 1489. |
| 27 | Michailidou K , Hall P , Gonzalez-Neira A , et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk[J]. Nat Genet, 2013, 45 (4): 353- 361. |
| 28 | Maurano MT , Humbert R , Rynes E , et al. Systematic localization of common disease-associated variation in regulatory DNA[J]. Science, 2012, 337 (6099): 1190- 1195. |
| 29 | Milne RL , Kuchenbaecker KB , Michailidou K , et al. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer[J]. Nat Genet, 2017, 49 (12): 1767- 1778. |
| 30 | Zheng W , Zhang B , Cai Q , et al. Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls[J]. Hum Mol Genet, 2013, 22 (12): 2539- 2550. |
| 31 | Ferreira MA , Gamazon ER , Al-Ejeh F , et al. Genome-wide association and transcriptome studies identify target genes and risk loci for breast can-cer[J]. Nat Commun, 2019, 10 (1): 1741. |
| 32 | Rivandi M , Martens JWM , Hollestelle A . Elucidating the underlying functional mechanisms of breast cancer susceptibility through post-gwas analyses[J]. Front Genet, 2018, 9, 1- 18. |
| 33 | Ghoussaini M , Edwards SL , Michailidou K , et al. Evidence that breast cancer risk at the 2q35 locus is mediated through igfbp5 regulation[J]. Nat Commun, 2014, 5, 4999. |
| 34 | Quigley DA , Fiorito E , Nord S , et al. The 5p12 breast cancer susceptibility locus affects mrps30 expression in estrogen-receptor positive tumors[J]. Mol Oncol, 2014, 8 (2): 273- 284. |
| 35 | Lawrenson K , Kar S , Mccue K , et al. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus[J]. Nat Commun, 2016, 7, 12675. |
| 36 | Wen W , Shu XO , Guo X , et al. Prediction of breast cancer risk based on common genetic variants in women of east Asian ancestry[J]. Breast Cancer Res, 2016, 18 (1): 1- 8. |
| 37 | Mavaddat N , Michailidou K , Dennis J , et al. Polygenic risk scores for prediction of breast cancer and breast cancer subtypes[J]. Am J Hum Genet, 2019, 104 (1): 21- 34. |
| 38 | Diet GS , Macinnis RJ , Bickerstaffe A , et al. Breast cancer risk prediction using clinical models and 77 independent risk-associated snps for women aged under 50 years: Australian breast cancer family registry[J]. Cancer Epidemiol Biomarkers Prev, 2016, 25 (2): 359- 365. |
/
| 〈 |
|
〉 |