专家论坛

遗传性乳腺癌外科治疗

展开
  • 浙江大学医学院附属第二医院乳腺外科,浙江 杭州 310009

收稿日期: 2022-08-01

  网络出版日期: 2022-11-10

基金资助

国家自然科学基金(82072900)

Surgical treatment of hereditary breast cancer

Expand

Received date: 2022-08-01

  Online published: 2022-11-10

本文引用格式

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 . DOI: 10.16139/j.1007-9610.2022.05.003

参考文献

[1] Chen W, Zheng R, Baade P, et al. Cancer statistics in China, 2015[J]. CA Cancer J Clin, 2016, 66(2):115-132.
[2] Sung H, Ferlay J, Siegel RL, et al. Global Cancer Statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries[J]. CA Cancer J Clin, 2021, 71(3):209-249.
[3] Hu C, Hart SN, Gnanaolivu R, et al. A population-based study of genes previously implicated in breast cancer[J]. N Engl J Med, 2021, 384(5):440-451.
[4] Breast Cancer Association Consortium, Dorling L, Carvalho S, et al. Breast cancer risk genes - association analysis in more than 113,000 women[J]. N Engl J Med, 2021, 384(5):428-439.
[5] Kurian AW, Ward KC, Abrahamse P, et al. Time trends in receipt of germline genetic testing and results for women diagnosed with breast cancer or ovarian cancer, 2012-2019[J]. J Clin Oncol, 2021, 39(15):1631-1640.
[6] 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.
[7] 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.
[8] Liu Y, Wang H, Wang X, et al. Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort[J]. J Hematol Oncol, 2021, 14(1):18.
[9] Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers[J]. JAMA, 2017, 317(23):2402-2416.
[10] Ducy M, Sesma-Sanz L, Guitton-Sert L, et al. The tumor suppressor PALB2: inside out[J]. Trends Biochem Sci, 2019, 44(3):226-240.
[11] Zhou J, Wang H, Fu F, et al. Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing[J]. Cancer, 2020, 126(14):3202-3208.
[12] Cybulski C, Kluzniak W, Huzarski T, et al. Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis[J]. Lancet Oncol, 2015, 16(6):638-644.
[13] Yang X, Leslie G, Doroszuk A, et al. Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families[J]. J Clin Oncol, 2020, 38(7):674-685.
[14] Pierce LJ, Phillips KA, Griffith KA, et al. Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy[J]. Breast Cancer Res Treat, 2010, 121(2):389-398.
[15] Nilsson MP, Hartman L, Kristoffersson U, et al. High risk of in-breast tumor recurrence after BRCA1/2-associated breast cancer[J]. Breast Cancer Res Treat, 2014, 147(3):571-578.
[16] Cao W, Xie Y, He Y, et al. Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer follow-ing breast-conserving surgery with BRCA1 and BRCA2 mutation in China[J]. Breast Cancer Res Treat, 2019, 175(3):749-754.
[17] van den Broek AJ, Schmidt MK, van′t Veer LJ, et al. Prognostic impact of breast-conserving therapy versus mastectomy of BRCA1/2 mutation carriers compared with noncarriers in a consecutive series of young breast cancer patients[J]. Ann Surg, 2019, 270(2):364-372.
[18] Wan Q, Su L, Ouyang T, et al. Comparison of survival after breast-conserving therapy vs. mastectomy among patients with or without the BRCA1/2 variant in a large series of unselected Chinese patients with breast cancer[J]. JAMA Netw Open, 2021, 4(4):e216259.
[19] Manning AT, Wood C, Eaton A, et al. Nipple-sparing mastectomy in patients with BRCA1/2 mutations and variants of uncertain significance[J]. Br J Surg, 2015, 102(11):1354-1359.
[20] Yao K, Liederbach E, Tang R, et al. Nipple-sparing mastectomy in BRCA1/2 mutation carriers: an interim analysis and review of the literature[J]. Ann Surg Oncol, 2015, 22(2):370-376.
[21] Kaas R, Verhoef S, Wesseling J, et al. Prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers: very low risk for subsequent breast cancer[J]. Ann Surg, 2010, 251(3):488-492.
[22] 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(4):CD002748.
[23] Evron E, Ben-David AM, Goldberg H, et al. Prophylactic irradiation to the contralateral breast for BRCA mutation carriers with early-stage breast cancer[J]. Ann Oncol, 2019, 30(3):412-417.
[24] Tung NM, Boughey JC, Pierce LJ, et al. Management of hereditary breast cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline[J]. J Clin Oncol, 2020, 38(18):2080-2106.
[25] Heemskerk-Gerritsen BA, Menke-Pluijmers MB, Jager A, et al. Substantial breast cancer risk reduction and potential survival benefit after bilateral mastectomy when compared with surveillance in healthy BRCA1 and BRCA2 mutation carriers: a prospective analysis[J]. Ann Oncol, 2013, 24(8):2029-2035.
[26] O′Connell RL, Tasoulis MK, Hristova E, et al. Satisfaction with long-term aesthetic and 10 years oncologic outcome following risk-reducing mastectomy and implant-based breast reconstruction with or without nipple preservation[J]. Cancers (Basel), 2022, 14(15):3607.
[27] 中国抗癌协会家族遗传性肿瘤专业委员会. 中国家族遗传性肿瘤临床诊疗专家共识(2021年版)(1)—家族遗传性乳腺癌[J]. 中国肿瘤临床, 2021, 48(23):1189-1195.
文章导航

/