外科理论与实践 ›› 2019, Vol. 24 ›› Issue (05): 406-411.doi: 10.16139/j.1007-9610.2019.05.008
李恒宇, 盛湲
收稿日期:2019-07-08
出版日期:2019-10-05
发布日期:2019-10-05
通讯作者:
盛湲,E-mail: sheng528yuan@163.com
Received:2019-07-08
Online:2019-10-05
Published:2019-10-05
中图分类号:
李恒宇, 盛湲. 遗传性乳腺癌基因检测的10个热点[J]. 外科理论与实践, 2019, 24(05): 406-411.
| [1] Ellisen LW, Haber DA, Hereditary breast cancer[J]. Annu Rev Med,1998,49:425-436. [2] Nielsen FC, van Overeen Hansen T, Sørensen CS. Hereditary breast and ovarian cancer: new genes in confined pathways[J]. Nat Rev Cancer,2016,16(9):599-612. [3] Stratton MR, Rahman N.The emerging landscape of breast cancer susceptibility[J]. Nat Genet,2008,40(1):17-22. [4] Foulkes WD.Inherited susceptibility to common cancers[J]. N Engl J Med,2008,359(20):2143-2153. [5] Weitzel JN, Blazer KR, MacDonald DJ, et al. Genetics, genomics, and cancer risk assessment: state of the art and future directions in the era of personalized medicine[J]. CA Cancer J Clin,2011,61(5):327-359. [6] Chen S, Parmigiani G.Meta-analysis of BRCA1 and BRCA2 penetrance[J]. J Clin Oncol,2007,25(11):1329-1333. [7] Yao L, Sun J, Zhang J, et al.Breast cancer risk in Chinese women with BRCA1 or BRCA2 mutations[J]. Breast Cancer Res Treat,2016,156(3):441-445. [8] Sun J, Meng H, Yao L, et al.Germline mutations in cancer susceptibility genes in a large series of unselected breast cancer patients[J]. Clin Cancer Res,2017,23(20):6113-6119. [9] Valachis A, Nearchou AD, Lind P.Surgical management of breast cancer in BRCA-mutation carriers: a systematic review and meta-analysis[J]. Breast Cancer Res Treat,2014,144(3):443-455. [10] Cao W, Xie Y, He Y, et al.Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer following breast-conserving surgery with BRCA1 and BRCA2 mutation in China[J]. Breast Cancer Res Treat,2019, 175(3):749-754. [11] Beitsch PD, Whitworth PW, Hughes K, et al.Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle?[J]. J Clin Oncol,2019,37(6):453-460. [12] Grindedal EM, Heramb C, Karsrud I, et al.Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers[J]. BMC Cancer,2017,17(1):438. [13] Knerr S, Bowles EJA, Leppig KA, et al.Trends in BRCA test utilization in an integrated health system, 2005-2015[J]. J Natl Cancer Inst,2019,111(8):795-802 [14] US Preventive Services Task Force, Owens DK, Davidson KW, et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force Recommendation Statement[J]. JAMA,2019,322(7):652-665. [15] Gross AL, Blot WJ, Visvanathan K.BRCA1 and BRCA2 testing in medically underserved medicare beneficiaries with breast or ovarian cancer[J]. JAMA,2018,320(6):597-598. [16] Kurian AW, Griffith KA, Hamilton AS, et al.Genetic testing and counseling among patients with newly diagnosed breast cancer[J]. JAMA,2017,317(5):531-534. [17] Modaffari P, Ponzone R, Ferrari A, et al. Concerns and expectations of risk-reducing surgery in women with hereditary breast and ovarian cancer syndrome[J]. J Clin Med,2019,8(3). pii: E313. [18] Gill Jr, Obley AJ, Prasad V.Direct-to-consumer genetic testing: The implications of the US FDA's first marketing authorization for BRCA mutation testing[J]. JAMA,2018, 319(23):2377-2378. [19] Tran SD, Pillemer SR, Dutra A, et al.Differentiation of human bone marrow-derived cells into buccal epithelial cells in vivo: a molecular analytical study[J]. Lancet,2003,361(9363):1084-1088. [20] NCCN. Genetic/Familial High-Risk Assessment: Breast and Ovarian. (Version 2.2019) [EB/OL]. [2019-07-03]. https://www.nccn.org/professionals/physician_gls/pdf/genetics_sc-reening.pdf [21] Golubeva VA, Nepomuceno TC, Monteiro ANA. Germline missense variants in BRCA1: New trends and challenges for clinical annotation[J]. Cancers (Basel),2019,11(4).pii: E522. [22] 《BRCA数据解读中国专家共识》编写组. BRCA数据解读中国专家共识[J]. 中华病理学杂志,2017,46(5):293-297. [23] Findlay GM, Daza RM, Martin B, et al.Accurate classification of BRCA1 variants with saturation genome editing[J]. Nature,2018,562(7726):217-222. [24] Cline MS, Liao RG, Parsons MT, et al.BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2[J]. PLoS Genet,2018,14(12):e1007752. [25] Spurdle AB, Healey S, Devereau A, et al.ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes[J]. Hum Mutat,2012, 33(1):2-7. [26] King MC, Wieand S, Hale K, et al.Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial[J]. JAMA,2001,286(18):2251-2256. [27] Nolan E, Vaillant F, Branstetter D, et al.RANK ligand as a potential target for breast cancer prevention in BRCA1-mutation carriers[J]. Nat Med,2016,22(2):933-939. [28] Narod SA, Lubinski J, Ghadirian P, et al.Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study[J]. Lancet Oncol,2006,7(5):402-406. [29] Plevritis SK, Kurian AW, Sigal BM, et al.Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging[J]. JAMA,2006,295(20):2374-2384. [30] Saadatmand S, Geuzinge HA, Rutgers EJT, et al.MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial[J]. Lancet Oncol,20(8):1136-1147. [31] Carbine NE, Lostumbo L, Wallace J, et al. Risk-reducing mastectomy for the prevention of primary breast cancer[J]. Cochrane Database Syst Rev,2018,4(1):CD002748. [32] Contant CM, Menke-Pluijmers MB, Seynaeve C, et al.Clinical experience of prophylactic mastectomy followed by immediate breast reconstruction in women at hereditary risk of breast cancer (HB(O)C) or a proven BRCA1 and BRCA2 germ-line mutation[J]. Eur J Surg Oncol,2002,28(6):627-632. [33] 中国医师协会精准治疗委员会乳腺癌专业委员会, 中华医学会肿瘤学分会乳腺肿瘤学组,中国抗癌协会乳腺癌专业委员会. 中国乳腺癌患者BRCA1/2基因检测与临床应用专家共识(2018年版)[J]. 中国癌症杂志,2018,28(10):787-800. [34] Pierce LJ, Levin AM, Rebbeck TR, et al.Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage Ⅰ/Ⅱ breast cancer[J]. J Clin Oncol,2006,24(16):2437-2443. [35] Terry MB, Daly MB, Phillips KA, et al.Risk-reducing ophorectomy and breast cancer risk across the spectrum of familial risk[J]. J Natl Cancer Inst,2019,111(3):331-334. [36] Wang H, Xiang D, Liu B, et al.Inadequate DNA damage repair promotes mammary transdifferentiation, leading to BRCA1 breast cancer[J]. Cell,2019,178(1):135-151. [37] Tutt A, Tovey H, Cheang MCU, et al.Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial[J]. Nat Med,2018,24(5):628-637. [38] Hahnen E, Lederer B, Hauke J, et al.Germline mutation status, pathological complete response, and disease-free survival in triple-negative breast cancer: secondary analysis of the GeparSixto randomized clinical trial[J]. JAMA Oncol,2017,3(10):1378-1385. [39] Robson M, Im SA, Senkus E, et al.Olaparib for metastatic breast cancer in patients with a germline BRCA mutatio[J]. N Engl J Med,2017,377(6):523-533. [40] Cruz C, Llop-Guevara A, Garber JE, et al.Multicenter phase Ⅱ study of lurbinectedin in BRCA-mutated and unselected metastatic advanced breast cancer and biomarker assessment substudy[J]. J Clin Oncol,2018,36(31):3134-3143. [41] Castro E, Goh C, Olmos D, et al.Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer[J]. J Clin Oncol,2013,31(14):1748-1757. [42] Baretta Z, Mocellin S, Goldin E, et al.Effect of BRCA germline mutations on breast cancer prognosis: A syste matic review and meta-analysis[J]. Medicine (Baltimore),2016,95(40):e4975. [43] Copson ER, Maishman TC, Tapper WJ, et al.Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study[J]. Lancet Oncol,2018,19(2):169-180. [44] Deng M, Chen HH, Zhu X, et al.Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China[J]. Int J Cancer,2019,145(6):1517-1528. [45] Terry MB, Liao Y, Whittemore AS, et al.10-year performance of four models of breast cancer risk: a validation study[J]. Lancet Oncol,2019,20(4):504-517. |
| [1] | 陈益定, 吴世杰. 遗传性乳腺癌外科治疗[J]. 外科理论与实践, 2022, 27(05): 392-395. |
| [2] | 余舒文, 方正滢, 谢静远. 基因检测在慢性肾脏病诊治中的应用及进展[J]. 诊断学理论与实践, 2020, 19(06): 613-617. |
| [3] | 李晓光. 基因检测在肌萎缩侧索硬化诊断中的意义[J]. 诊断学理论与实践, 2018, 17(04): 387-390. |
| [4] | 胡晓洁，高阳，林晓曦，汤淳，李伟，陈辉，金云波，马刚，于文心，常雷，杨希，仇雅璟. 新技术应用:对具有血管畸形且疑似NF1的患者应用基因检测技术进行明确诊断[J]. 组织工程与重建外科杂志, 2016, 12(2): 128-130. |
| [5] | 张宝荣, 金范莹,. 亨廷顿病与类亨廷顿病的分子诊断[J]. 诊断学理论与实践, 2016, 15(02): 113-117. |
| [6] | 李剑平, 李娇, 李晓丰,. 红细胞血型的免疫学检测与基因检测的现状和展望[J]. 诊断学理论与实践, 2015, 14(06): 491-493. |
| [7] | 卢思奇,. 肺孢子菌肺炎的病原检查和基因检测[J]. 诊断学理论与实践, 2010, 9(06): 552-554. |
| [8] | 吴镝,. 肾脏疾病中基因检测的新技术[J]. 诊断学理论与实践, 2007, 6(06): 510-512. |
| [9] | 王鸿利,. 血栓与止血检测在出血病和易栓症中的应用[J]. 诊断学理论与实践, 2007, 6(04): 391-395. |
| [10] | 刘瑛,张蓓,沈立松. 4种检测耐甲氧西林金黄色葡萄球菌方法的评估[J]. 诊断学理论与实践, 2005, 4(03): 225-227. |
| [11] | 宁光. 重视内分泌代谢病的基因检测[J]. 诊断学理论与实践, 2003, 2(02): 5-6. |
| 阅读次数 | ||||||
|
全文 |
|
|||||
|
摘要 |
|
|||||
