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Литература

  1. Antoniou A., Pharoah P., 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.
  2. Graeser MK1, Engel C, Rhiem K, et al. Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2009; 27 (35):5887-92.
  3. F. Aloraifi, D. McCartan, T.McDevitt, et al. Protein-truncating variants in moderate-risk breast cancer susceptibility genes: A meta- analysis of high-risk case-control screening studies. Cancer Genetics 208 (2015) 455–463.
  4. Sokolenko AP, Iyevleva AG, Preobrazhenskaya EV, et al. High prevalence and breast cancer predisposing role of the BLM c.1642 C > T (Q548X) mutation in Russia. Int J Cancer 2012,130:2867–2873.
  5. Prokofyeva D, Bogdanova N, Dubrowinskaja N, et al.: Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom’s syndrome, is associated with breast cancer in Slavic populations. Breast Cancer Res Treat 2013, 137:533–539.
  6. Seal S, Thompson D, Renwick A, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006, 38:1239–1241.
  7. Hansford S, Kaurah P, Li-Chang H, et al. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. JAMA Oncol. 2015 Apr;1(1):23-32.
  8. Adank MA, Jonker MA, Kluijt I, et al. CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. J Med Genet 2011, 48(12):860–863.
  9. Cybulski C, Wokołorczyk D, Jakubowska A, et al. Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol. 2011;29(28):3747-52.
  10. Weischer M1, Bojesen SE, Ellervik C, et al. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol. 2008 Feb 1;26(4): 542-8.
  11. Lim W, Hearle N, Shah B, et al. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer 2003, 89:308–313.
  12. Harkness EF, Barrow E, Newton K, et al. Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: a cohort study. J Med Genet. 2015 Aug;52(8):553-6.
  13. Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014 Aug 7;371(6):497-506.
  14. M.H.Tan, J.L.Mester, J.Ngeow, et al. Lifetime Cancer Risks in Individuals with Germline PTEN MutationsClin Cancer Res; 2012.18(2); 400–7.
  15. Ngeow J, Stanuch K, Mester JL, et al Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. J Clin Oncol. 2014 Jun 10;32(17):1818-24.
  16. J. Sun, Y.Wang, Y.Xia. et al. Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer. PLoS Genet 11(5): e1005228. doi:10.1371/journal. pgen.1005228.
  17. Cybulski C., Carrot-Zhang J., Kluźniak W., et al. Germline RECQL mutations are associated with breast cancer susceptibility. Nat Genet. 2015 Jun;47(6):643-646.
  18. S.J. Hwang, G. Lozano, C. I. Amos and L. C. Strong. Germline p53 Mutations in a Cohort with Childhood Sarcoma: Sex Differences in Cancer Risk. Am. J. Hum. Genet. 2003.72:975–983.
  19. McDonnell S.K., Schaid D.J., Myers J.L., et al. Efficacy of contralateral prophylactic mastectomy in women with a personal and family history of breast cancer. J Clin Oncol 2001; 19(19):3938-3943.
  20. Hartmann L.C., Sellers T.A., Schaid D.J., et al. Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst. 2001;93(21):1633-1637.
  21. Rebbeck T.R., Friebel T., Lynch H.T. 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.
  22. Domchek S.M., Friebel T.M., Singer C.F. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010; 304(9): 967-975.
  23. С.М.Портной, Л.Н.Любченко, С.Н.Блохин, и соавт. Клинические особенности BRCA-ассоциированного рака молочной железы и методы профилактики наследственных рака молочной железы и рака яичников. Обзор литературы и собственные данные. Справочник акушера-гинеколога. 2011, № 1, 34-38.
  24. De Felice F, Marchetti C, Musella A, et al. Bilateral risk-reduction mastectomy in BRCA1 and BRCA2 mutation carriers: a meta-analysis. Ann Surg Oncol. 2015;22(9):2876-80.
  25. V.M.T. van Verschuer, M.C. Maijers, C.H.M. van Deurzen, L.B. Koppert. Oncological safety of prophylactic breast surgery: skin-sparing and nipple-sparing versus total mastectomy. Gland Surgery 2015:4(6):467-475.
  26. Petit J.Y., Greco M. on behalf of EUSOMA. Position Paper. Quality control in prophylactic mastectomy for women at high risk of breast cancer. European J Cancer. 2002, 38:23-26.
  27. http://oncology-association.ru/docs/ recomend/may2015/24vz-rek.pdf
  28. http://www.nccn.org/professionals/ physician_gls/pdf/breast_risk.pdf).

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