[1] |
National Cancer Institute. SEER cancer statistics factsheets: breast cancer [EB/OL]. [2018-06-03].
URL
|
[2] |
Fan L, Zheng Y, Yu KD, et al. Breast cancer in a transitional society over 18 years: trends and present status in Shanghai, China [J]. Breast Cancer Res Treat, 2009, 117(2): 409-416.
|
[3] |
Chen W, Zheng R, Baade PD, et al. Cancer statistics in China, 2015 [J]. CA Cancer J Clin, 2016, 66(2): 115-132.
|
[4] |
杨名添,戎铁华,黄植蕃,等. 可手术乳腺癌6263例临床分析[J]. 癌症,2005, 24(3): 327-331.
|
[5] |
杜建姝. 中国乳腺癌现状[J]. 世界最新医学信息文摘,2019, 19(46): 371-372.
|
[6] |
薛映月,邵清,蔡满满. 超声弹性应变率值在鉴别乳腺炎与乳腺癌中的应用分析[J]. CT理论与应用研究,2018, 27(3): 379-385.
|
[7] |
席剑雾,金秋龙,曹阳. 高频二维三维彩超与X线钼靶联合应用对乳腺癌的诊断价值探讨[J]. 中国临床新医学,2018, 11(5): 490-492.
|
[8] |
徐丽萍. MRI、超声、X线钼靶在乳腺癌诊断中的应用价值 [J]. 影像研究与医学应用. 2018, 2(12): 44-45.
|
[9] |
Watson IR, Takahashi K, Futreal PA, et al. Emerging patterns of somatic mutations in cancer[J]. Nat Rev Genet, 2013, 14(10): 703-718.
URL
|
[10] |
Lee EY, Muller WJ. Oncogenes and tumor suppressor genes[J]. Cold Spring Harb Perspect Biol, 2010, 2(10): a003236.
|
[11] |
陈琴,黄守国. 原癌基因与抑癌基因对子宫颈癌发生发展的影响[J]. 海南医学,2018, 29(14): 2026-2028.
|
[12] |
Tabatabaeian H, Hojati Z. Assessment of HER-2 gene overexpression in Isfahan province breast cancer patients using Real Time RT-PCR and immunohistochemistry [J]. Gene, 2013, 531(1): 39-43.
URL
|
[13] |
Dumont AG, Dumont SN, Trent JC. The favorable impact of PIK3CA mutations on survival: an analysis of 2587 patients with breast cancer [J]. Chin J Cancer, 2012, 31(7): 327-334.
|
[14] |
Chrzan P, Skokowski J, Karmolinski A, et al. Amplification of c-myc gene and overexpression of c-Myc protein in breast cancer and adjacent non-neoplastic tissue [J]. Clin Biochem, 2001, 34(7): 557-562.
URL
|
[15] |
Donovan-Peluso M, Contento AM, Tobon H. Oncogene amplification in breast cancer[J]. Am J Pathol, 1991, 138(4): 835-845.
|
[16] |
Fernández-Medarde A, Santos E. Ras in cancer and developmental diseases [J]. Genes Cancer, 2011, 2(3): 344-358.
|
[17] |
Masood S, El-Gabry E, Zhang C. DNA methylation of the hTERT gene in breast cancer revisited: diagnostic and clinical implications[J]. Lab Med, 2016, 47(4): 293-299.
|
[18] |
Dossus L, Benusiglio PR. Lobular breast cancer: incidence and genetic and non-genetic risk factors [J]. Breast Cancer Res, 2015, 17: 37.
|
[19] |
Chandarlapaty S, Chen D, He W, et al. Prevalence of ESR1 mutations in cell-free DNA and outcomes in metastatic breast cancer: a secondary analysis of the BOLERO-2 clinical trial [J]. JAMA Oncol, 2016, 2(10): 1310-1315.
|
[20] |
Bertheau P, Lehmann-Che J, Varna M, et al. p53 in breast cancer subtypes and new insights into response to chemotherapy [J]. Breast, 2013, 22(Suppl 2): S27-S29.
|
[21] |
Friebel TM, Domchek SM, Rebbeck TR. Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis [J]. J Natl Cancer Inst, 2014, 106(6): dju091.
|
[22] |
Zhao W, Steinfeld JB, Liang F, et al. BRCA1-BARD1 promotes RAD51-mediated homologous DNA pairing [J]. Nature, 2017, 550(7676): 360-365.
|
[23] |
Antoniou AC, Casadei S, Heikkinen T, et al. Breast-Cancer Risk in Families with Mutations in PALB2 [J]. N Engl J Med, 2014, 371(6): 497-506.
|
[24] |
Robinson TJ, Liu JC, Vizeacoumar F. RB1 status in triple negative breast cancer cells dictates response to radiation treatment and selective therapeutic drugs[J]. PLoS One, 2013, 8(11): e78641.
|
[25] |
Cipollini G, Moretti A, Ghimenti C, et al. Mutational analysis of the NM23.H1 gene in human breast cancer[J]. Cancer Genet Cytogenet, 2000, 121(2): 181-185.
|
[26] |
Pilgrim SM, Pain SJ, Tischkowitz MD. Opportunities and challenges of next-generation DNA sequencing for breast units[J]. Br J Surg, 2014, 101(8): 889-898.
|
[27] |
Desjardins S, Beauparlant JC, Labrie Y, et al. Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer[J]. BMC Cancer, 2009, 9: 181.
|
[28] |
Ataei-Kachouei M, Nadaf J, Akbari MT, et al. Double heterozygosity of BRCA2 and STK11 in familial breast cancer detected by exome sequencing[J]. Iran J Public Health, 2015, 44(10): 1348-1352.
|
[29] |
Isakoff SJ, Engelman JA, Irie HY, et al. Breast cancer-associated PIK3CA mutations are oncogenic in mammary epithelial cells [J]. Cancer Res, 2005, 65(23): 10992-11000.
|
[30] |
Xu J, Chen Y, Olopade OI. MYC and Breast Cancer[J]. Genes Cancer, 2010, 1(6): 629-640.
|
[31] |
Soussi T. The p53 tumor suppressor gene: from molecular biology to clinical investigation [J]. Ann N Y Acad Sci, 2000, 910: 121-137; discussion 137-139.
|
[32] |
Marcel V, Catez F, Diaz JJ. p53, a translational regulator: contribution to its tumour-suppressor activity [J]. Oncogene. 2015, 34(44): 5513-5523.
|
[33] |
Fishman A, Dekel E, Chetrit A, et al. Patients with double primary tumors in the breast and ovary-clinical characteristics and BRCA1-2 mutations status [J]. Gynecol Oncol, 2000, 79(1): 74-78.
|
[34] |
Xia B, Sheng Q, Nakanishi K, et al. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2 [J]. Mol Cell, 2006, 22(6): 719-729.
|
[35] |
Kast K, Rhiem K, Wappenschmidt B, et al. Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer [J]. J Med Genet, 2016, 53(7): 465-471.
|
[36] |
Ekblom R, Wolf JB. A field guide to whole genome sequencing, assembly and annotation [J]. Evol Appl, 2014, 7(9): 1026-1042.
|
[37] |
张濛,张青云,徐国宾. 新一代测序技术在肿瘤临床中的应用[J]. 临床检验杂志,2014, 32(9): 641-646.
|
[38] |
樊绮诗,吴蓓颖. 第二代测序技术在肿瘤诊疗中的应用及其价值与风险[J]. 检验医学,2017, 32(4): 245-249.
|
[39] |
王旭东,鞠少卿. 新一代测序技术在肿瘤精准医学中的应用[J]. 中华临床实验室管理电子杂志,2015, 3(3): 139-145.
|
[40] |
Hu Z, Fan C, Oh DS, et al. The molecular portraits of breast tumors are conserved across microarray platforms[J]. BMC Genomics, 2006, 7: 96.
|
[41] |
Ping Tang, 魏兵. 免疫组织化学染色在乳腺癌分子分型中的应用[J/CD]. 中华乳腺病杂志(电子版), 2018, 12(1): 4-11.
|
[42] |
Judkins T, Leclair B, Bowles K, et al. Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk [J]. BMC Cancer, 2015, 15: 215.
|
[43] |
Tung N, Lin NU, Kidd J, et al. Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer[J]. J Clin Oncol, 2016, 34(13): 1460-1468.
|
[44] |
Kraus C, Hoyer J, Vasileiou G, et al. Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2[J]. Int J Cancer, 2017, 140(1): 95-102.
|
[45] |
周金妹,史方浩,马艳. 液体活检技术在乳腺癌诊治中的应用进展[J]. 实用肿瘤杂志,2016, 31(5): 414-418.
|
[46] |
De Mattos-Arruda L, Caldas C. Cell-free circulating tumour DNA as a liquid biopsy in breast cancer[J]. Mol Oncol, 2016, 10(3): 464-474.
|
[47] |
Garcia-Murillas I, Schiavon G, Weigelt B, et al. Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer[J]. Sci Transl Med, 2015, 7(302): 302ra133.
|
[48] |
Chae YK, Davis AA, Jain S, et al. Concordance of genomic alterations by next-generation sequencing in tumor tissue versus circulating tumor dna in breast cancer[J]. Mol Cancer Ther, 2017, 16(7): 1412-1420.
|
[49] |
谭国强,林绍强. 液体活检在乳腺癌中的研究进展[J]. 暨南大学学报(自然科学与医学版), 2017, 38(5): 411-416.
|
[50] |
张俊琦,周斌. 伴随诊断相关抗肿瘤药物的发展现状[J]. 中国现代应用药学,2018, 35(3): 454-459.
|
[51] |
高宇,吴传松. 多位点二代测序肿瘤体外诊断产品分析[J]. 中国医疗器械信息,2018, 24(17): 5-7.
|
[52] |
王一树. NGS被FDA批准为肿瘤检测伴随诊断[EB/OL]. [2018-06-03].
URL
|
[53] |
艾德生物. 我国首款跨癌种NGS伴随诊断产品获批[EB/OL]. [2018-06-03].
URL
|
[54] |
白云. 细数FDA在肿瘤领域批准的NGS体外诊断产品[EB/OL]. [2018-06-03].
URL
|
[55] |
Myriad Genetics,Co. BRAC analysis CDx confidently recommend an appropriate PARP inhibitor with fast and accurate BRCA1/2 results [EB/OL]. [2018-06-03].
URL
|
[56] |
Shah SP, Roth A, Goya R, et al. The clonal and mutational evolution spectrum of primary triple-negative breast cancers[J]. Nature, 2012, 486(7403): 395-399.
URL
|
[57] |
Ellis MJ, Ding L, Shen D, et al. Whole-genome analysis informs breast cancer response to aromatase inhibition[J]. Nature, 2012, 486(7403): 353-360.
URL
|
[58] |
李妍,徐兴祥. 第二代测序技术在实体瘤诊治方面的研究进展[J]. 现代肿瘤医学,2018, 26(24): 4035-4042.
|
[59] |
临床分子病理实验室二代基因测序检测专家共识编写组. 临床分子病理实验室二代基因测序检测专家共识[J]. 中华病理学杂志,2017, 46(3): 145-148.
|
[60] |
Bennett NC, Farah CS. Next-generation sequencing in clinical oncology: next steps towards clinical validation[J]. Cancers (Basel), 2014, 6(4): 2296-2312.
|