Наследственная форма рака молочной железы: современное состояние проблемы

Наследственная форма рака молочной железы: современное состояние проблемы

Автор: Гатуева Фатима Сослановна, Любченко Людмила Николаевна, Малыгин Сергей Евгеньевич

Журнал: Клиническая практика @clinpractice

Рубрика: Обзоры

Статья в выпуске: 1 т.11, 2020 года.

Бесплатный доступ

Показатели заболеваемости раком молочной железы растут в большинстве стран год от года. Цель настоящего обзора литературы - представить современные сведения о причинах, механизмах развития, различных методах профилактики, ранней диагностики и лечения наследственной формы рака молочной железы. Рассматривается эффективность двусторонней профилактической мастэктомии.

Наследственный рак молочной железы, профилактическая мастэктомия

Короткий адрес: https://sciup.org/143170827

IDR: 143170827   |   DOI: 10.17816/clinpract18964

Список литературы Наследственная форма рака молочной железы: современное состояние проблемы

  • Злокачественные новообразования в России в 2016 году (заболеваемость и смертность) / Под ред. Каприна А.Д., Старинского В.В., Петровой Г.В. - М.: МНИОИ им. П.А. Герцена - филиал ФГБУ "НМИРЦ" Минздрава России, 2018. - 250 с.
  • Kuusisto KM, Bebel A, Vihinen M, et al. Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50 and CDH1 mutations in high-risk finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals. Breast Cancer Res. 2011;13(1):R20. DOI: 10.1186/bcr2832
  • Peng L, Xu T, Long T, Zuo H. Association between BRCA status and P53 status in breast cancer: a meta-analysis. Med Sci Monit. 2016;22:1939-1945. DOI: 10.12659/msm.896260
  • Janavičius R. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J. 2010;1(3):397-412. DOI: 10.1007/s13167-010-0037-y
  • Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117-1130. DOI: 10.1086/375033
  • Risch HA, McLaughlin JR, Cole DE, et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst. 2006;98(23):1694-1706.
  • DOI: 10.1093/jnci/djj465
  • Litton JK, Ready K, Chen H, et al. Earlier age of onset of BRCA mutation-related cancers in subsequent generations. cancer. 2012;118(2):321-325.
  • DOI: 10.1002/cncr.26284
  • Bayraktar S, Amendola L, Gutierrez-Barrera AM, et al. Clinicopathologic characteristics of breast cancer in BRCA-carriers and non-carriers in women 35 years of age or less. breast. 2014;23(6):770-774.
  • DOI: 10.1016/j.breast.2014.08.010
  • Kim JY, Moon HG, Kang YJ, et al. The effect of reproductive factors on breast cancer presentation in women who are BRCA mutation carrier. J breast cancer. 2017;20(3):279-285.
  • DOI: 10.4048/jbc.2017.20.3.279
  • Cullinane CA, Lubinski J, Neuhausen SL, et al. Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers. Int J Cancer. 2005;117(6):988-991.
  • DOI: 10.1002/ijc.21273
  • Alsaker MD, Opdahl S, Romundstad PR, Vatten LJ. Association of time since last birth, age at first birth and parity with breast cancer survival among parous women: a register-based study from Norway. Int J Cancer. 2013;132(1):174-181.
  • DOI: 10.1002/ijc.27593
  • Andrieu N, Goldgar DE, Easton DF, et al.; IBCCS Collaborators Group. Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS). J Natl Cancer Inst. 2006;98(8):535-544.
  • DOI: 10.1093/jnci/djj132
  • Milne RL, Osorio A, Ramóny Cajal T, et al. Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2010;119(1):221-232.
  • DOI: 10.1007/s10549-009-0394-1
  • Kotsopoulos J, Lubinski J, Salmena L. Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. 2012;14(2):R42.
  • DOI: 10.1186/bcr3138
  • Brohet RM, Goldgar DE, Easton DF, et al. Oral contraceptives and breast cancer risk in the International BRCA1/2 Carrier Cohort Study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating. J Clin Oncol. 2007;25(25):3831-3836.
  • DOI: 10.1200/JCO.2007.11.1179
  • Gronwald J, Byrski T, Huzarski T, et al. Influence of selected lifestyle factors on breast and ovarian cancer risk in BRCA1 mutation carriers from Poland. Breast Cancer Res Treat. 2006;95(2):105-109.
  • DOI: 10.1007/s10549-005-9051-5
  • Lee E, Ma H, McKean-Cowdin R, et al. Effect of reproductive factors and oral contraceptives on breast cancer risk in BRCA1/2 mutation carriers and noncarriers: results from a population-based study. Cancer Epidemiol Biomarkers Prev. 2008;17(11):3170-3178.
  • DOI: 10.1158/1055-9965.EPI-08-0396
  • Friebel TM, Domchek SM, Rebbeck TR. Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis. J Natl Cancer Inst. 2014;106(6):dju091.
  • DOI: 10.1093/jnci/dju091
  • Fischer C, Kuchenbäcker K, Engel C, et al. Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium German Consortium for Hereditary Breast and Ovarian Cancer. J Med Genet. 2013;50(6):360-367.
  • DOI: 10.1136/jmedgenet-2012-101415
  • Rosner BA, Colditz GA, Hankinson SE, et al. Validation of Rosner-Colditz breast cancer incidence model using an independent data set, the California Teachers Study. Breast Cancer Res Treat. 2013;142(1):187-202.
  • DOI: 10.1007/s10549-013-2719-3
  • Evans DG, Ingham S, Dawe S, et al. Breast cancer risk assessment in 8,824 women attending a family history evaluation and screening programme. Fam Cancer. 2014;13(2):189-196.
  • DOI: 10.1007/s10689-013-9694-z
  • Zeichner SB, Stanislaw C, Meisel JL. Prevention and screening in hereditary breast and ovarian cancer. Oncology (Williston Park). 2016;30(10):896-904.
  • Dontu G, El-Ashry D, Wicha MS. Breast cancer/stem progenitor cells and estrogen receptor. Trends Endocrinol Metab. 2004;15(5):193-197.
  • DOI: 10.1016/j.tem.2004.05.011
  • Foulkes WD, Smith IE, Reis-Filho JS. Triple-negative breast cancer. N Engl J Med. 2010;363(20):1938-1948.
  • DOI: 10.1056/NEJMra1001389
  • Turner NC, Reis-Filho JS. Basal-like breast cancer and the BRCA1 phenotype. Oncogene. 2006;25(43):5846-5853.
  • DOI: 10.1038/sj.onc.1209876
  • Daly MB, Pilarski R, Axilbund JE, et al. Genetic/familial high-risk assessment: breast and ovarian, version 2.2015. J Natl Compr Canc Netw. 2016;14(2):153-162.
  • DOI: 10.6004/jnccn.2016.0018
  • Honrado E., Benítez J, Palacios J. Histopathology of BRCA1- and BRCA2-associated breast cancer. Crit Rev Oncol Hematol. 2006;59(1):27-39.
  • DOI: 10.1016/j.critrevonc.2006.01.006
  • Rebbeck TR, Friebel T, Lynch HT, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2004;22(6):1055-1062.
  • DOI: 10.1200/JCO.2004.04.188
  • Jansen-van der Weide MC, Greuter MJ, Jansen L, et al. Exposure to low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition: a meta-analysis. Eur Radiol. 2010;20(11):2547-2556.
  • DOI: 10.1007/s00330-010-1839-y
  • Pijpe A, Andrieu N, Easton DF, et al. Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ. 2012;345:e5660.
  • DOI: 10.1136/bmj.e5660
  • Heisey R, Carroll JC. Identification and management of women with a family history of breast cancer: practical guide for clinicians. Can Fam Physician. 2016;62(10):799-803.
  • Freitas V, Crystal P, Kulkarni SR, et al. The value of breast MRI in high-risk patients with newly diagnosed breast cancer to exclude invasive disease in the contralateral prophylactic mastectomy: is there a role to choose wisely patients for sentinel node biopsy? Cancer Med. 2016;5(6):1031-1036.
  • DOI: 10.1002/cam4.663
  • Passaperuma K, Warner E, Causer PA, et al. Long-term results of screening with magnetic resonance imaging in women with BRCA mutation. Br J Cancer. 2012;107(1):24-30.
  • DOI: 10.1038/bjc.2012.204
  • Kurian AW, Sigal BM, Plevritis SK. Plevritis plevritis survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers. J Clin Oncol. 2010;28(2):222-231.
  • DOI: 10.1200/JCO.2009.22.7991
  • Gronwald J, Tung N, Foulkes WD, et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer. 2006;118(9):2281-2284.
  • DOI: 10.1002/ijc.21536
  • Vogel VG. Update on raloxifene: role in reducing the risk of invasive breast cancer in postmenopausal women. Breast Cancer (Dove Med Press). 2011;3:127-137.
  • DOI: 10.2147/BCTT.S11288
  • Valachis A, Nearchou AD, Lind P. Surgical management of breast cancer in BRCA-mutation carriers: a systematic review and meta-analysis. Breast Cancer Res Treat. 2014;144(3):443-455.
  • DOI: 10.1007/s10549-014-2890-1
  • Garcia-Etienne CA, Barile M, Gentilini OD, et al. Breast-conserving surgery in BRCA1/2 mutation carriers: are we approaching an answer? Ann Surg Oncol. 2009;16(12):3380-3387.
  • DOI: 10.1245/s10434-009-0638-7
  • Goodwin PJ, Phillips KA, West DW, et al. Breast cancer prognosis in BRCA1 and BRCA2 mutation carriers: an International Prospective Breast Cancer Family Registry population-based cohort study. J Clin Oncol. 2012;30(1):19-26.
  • DOI: 10.1200/JCO.2010.33.0068
  • Manning AT, Sacchini VS. Conservative mastectomies for breast cancer and risk-reducing surgery: the Memorial Sloan Kettering Cancer Center experience. Gland Surg. 2016;5(1):55-62.
  • DOI: 10.3978/j.issn.2227-684X.2015.10.02
  • Murthy V, Chamberlain RS. Defining a place for nipple sparcing mastectomy in modern breast care: an evidence based review. Breast J. 2013;19(6):571-581.
  • DOI: 10.1111/j.1524-4741.2011.01220.x
  • Peled AW, Wang F, Foster RD, et al. Expanding the Indications for total skin-sparing mastectomy: is it safe for patients with locally advanced disease? Ann Surg Oncol. 2016;23(1):87-91.
  • DOI: 10.1245/s10434-015-4734-6
  • Phillips KA, Milne RL, Rookus MA, et al. Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutations. J Clin Oncol. 2013;31(25):3091-3099.
  • DOI: 10.1200/JCO.2012.47.8313
  • Metcalfe KA, Lubinski J, Ghadirian P, et al. Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group. J Clin Oncol. 2008;26(7):1093-1097.
  • DOI: 10.1200/JCO.2007.12.6078
  • McLaughlin CC, Lillquist PP, Edge SB Surveillance of prophylactic mastectomy: trends in use from 1995 through 2005. Cancer. 2009 Dec 1; 115(23):5404-12.
  • King TA, Sakr R, Patil S, et al. Clinical management factors contribute to the decision for contralateral prophylactic mastectomy. J Clin Oncol. 2011;29(16):2158-2164.
  • DOI: 10.1200/JCO.2010.29.4041
  • Meijers-Heijboer H, van Geel B, van Putten WL, et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med. 2001;345(3):159-164.
  • DOI: 10.1056/NEJM200107193450301
  • Fu Y, Zhuang Z, Dewing M, et al. Predictors for contralateral prophylactic mastectomy in breast cancer patients. Int J Clin Exp Pathol. 2015;8(4):3748-3764.
  • Yao K, Liederbach E, Tang R, et al. Nipple-sparing mastectomy in BRCA1/2 mutation carriers: an interim analysis and review of the literature. Ann Surg Oncol. 2015;22(2):370-376.
  • DOI: 10.1245/s10434-014-3883-3
  • Van Verschuer VM, Maijers MC, van Deurzen CH, Koppert LB. Oncological safety of prophylactic breast surgery: skin-sparing and nipple-sparing versus total mastectomy. Gland Surg. 2015;4(6):467-475.
  • DOI: 10.3978/j.issn.2227-684X.2015.02.01
  • Griepsma M, de Roy van Zuidewijn DB, Grond AJ, et al. Residual breast tissue after mastectomy: how often and where is it located? Ann Surg Oncol. 2014;21(4):1260-1266.
  • DOI: 10.1245/s10434-013-3383-x
  • Benson JR, Dumitru D, Malata CM. Oncologic safety of conservative mastectomy in the therapeutic setting. Gland Surg. 2016;5(1):37-46.
  • DOI: 10.3978/j.issn.2227-684X.2015.05.13
  • Портной С.М., Любченко С.Н., Блохин В.А., и др. Профилактика BRCA-ассоциированных рака молочной железы и рака яичников. Обзор литературы и собственные данные // Онкогинекология. - 2012. - №1. - С. 68-72. [Portnoy SM, Lubchenko LN, Blochin SN, et al. Prophylactic of BRCA1, 2-associated breast and ovarian cancers. Onkoginekologiia. 2012;(1):68-72. (In Russ).]
  • Pinell-White XA, Kolegraff K, Carlson GW. Predictors of contralateral prophylactic mastectomy and the impact on breast reconstruction. Ann Plast Surg. 2014;72(6):S153-157.
  • DOI: 10.1097/SAP.0000000000000099
  • Albornoz CR, Bach PB, Mehrara BJ, et al. A paradigm shift in U.S. Breast reconstruction: increasing implant rates. Plast Reconstr Surg. 2013;131(1):15-23.
  • DOI: 10.1097/PRS.0b013e3182729cde
  • Geiger AM, West CN, Nekhlyudov L, et al. Contentment with quality of life among breast cancer survivors with and without contralateral prophylactic mastectomy. J Clin Oncol. 2006;24(9):1350-1356.
  • DOI: 10.1200/JCO.2005.01.9901
  • Hwang ES, Locklear TD, Rushing CN, et al. Patient-reported outcomes after choice for contralateral prophylactic mastectomy. Clin Oncol. 2016;34(13):1518-1527.
  • DOI: 10.1200/JCO.2015.61.5427
  • Koslow S, Pharmer LA, Scott AM, et al. Long-term patient-reported satisfaction after contralateral prophylactic mastectomy and implant reconstruction. Ann Surg Oncol. 2013;20(11):3422-3429.
  • DOI: 10.1245/s10434-013-3026-2
  • Tondu T, Thiessen F, Tjalma WA. Prophylactic bilateral nipple-sparing mastectomy and a staged breast reconstruction technique: preliminary results. Breast Cancer (Auckl). 2016;10:185-189.
  • DOI: 10.4137/BCBCR.S40033
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