Kliniko-geneticheskaya geterogennost' semeynogo raka molochnoy zhelezy


Cite item

Full Text

Abstract

В последнее десятилетие решение вопросов этиологии, патогенеза, ранней диагностики и профилактики рака молочной железы (РМЖ) связывают с открытиями в области молекулярной генетики, благодаря чему появилась возможность выявить гены предрасположенности, которые вовлекаются в процесс канцерогенеза при РМЖ. Фундаментальные исследования в этой области существенно изменили и конкретизировали представления о структуре генов, взаимоотношениях ген-белок, ген-признак и генотип-фенотип, что имеет огромное прикладное значение для трактовки клинического, биохимического и морфологического фенотипа РМЖ, а также для прогнозирования развития, доклинической диагностики и профилактики наследственных вариантов РМЖ. Выявление пациентов с онкологически отягощенным анамнезом и синдромальной патологией, последующее квалифицированное медико-генетическое консультирование с использованием ДНК-диагностических методов позволяют разработать индивидуальный подход к ранней диагностике, тактике ведения, профилактике и модификации риска развития наследуемых форм рака.

About the authors

L N Lyubchenko

ГУ Российский онкологический научный центр им. Н.Н.Блохина РАМН

R F Gar'kavtseva

ГУ Российский онкологический научный центр им. Н.Н.Блохина РАМН

References

  1. Карпухин А.В., Поспехова Н.И., Любченко Л.Н., и др. Частоты олигонуклеотидных полиморфизмов и мутаций в гене BRCA 1 при наследственно обусловленном раке молочной железы и/или яичников. Доклады Академии наук (ДАН), М., 2002; 383 (5): 1-4.
  2. Любченко Л.Н. Автореф. дис. ... канд. мед. наук. М., 2002.
  3. Любченко Л.Н., Гарькавцева Н.И., Поспехова Н.И. и др. ДНК-диагностика и медико - генетическое консультирование при наследственной предрасположенности к раку молочной железы. В сборн. "Возможности современной онкологии в диагностике и лечении злокачественных заболеваний". М., 2003; с. 44-7.
  4. Abeliovich D, Kaduri L, Lerer I et al. The faunder mutations 185 del AG and 5382 insC in BRCA 1 and 6174 delT in BRCA 2 appear in 60% 0f ovarian cancer and 30% of early - onset breast cancer patients among Ashkenazi women. Am J Hum Genet 1997; 60: 505.
  5. Agnarsson B, Jonasson J, Bjorndottir I et al. Inherited BRCA 2 mutation associated with high grade breast cancer. Breast Cancer Res Treat 1998; 47: 121-7.
  6. Albano W, Recabaren J, Lynch H et al. Natural history of hereditary cancer of the breast and colon. Cancer 1982; 50: 360-3.
  7. Armes J, Egan A, Southy M et al. The histologic phenotypes of breast carcinoma occurring befor 40 years in women with and without BRCA 1 or BRCA 2 germline mutations. Cancer 1998; 83: 2335-45.
  8. BIC date base online. http://www.nhgri.nih.gov/.
  9. Breast Cancer Linkage Consortium. Carrier risks in BRCA 2 mutation carriers. J Natl Cancer Inst 1999; 91: 1310-6.
  10. Braun D et al. JNCI, 1999.
  11. Burke W, Petersen G, Lynch P et al. Recommendations for follow - up care of individuals with an inherited predisposition to cancer. JAMA 1997; 227: 915-9.
  12. Chen Y, Chen C, Riley D et al. Aberrant subcellular localization of BRCA 1 in breast cancer. Science 1995; 270: 789-91.
  13. Claus K, Machakova E, Vos D et al. Mutation analysis of the BRCA 1 and BRCA 2 genes in the Belgian population. Biomed 2: Familial Breast Cancer Demonstration Project Symposium 1999.
  14. Couch F, Farid L, De Shano M et al. BRCA 2 germline mutations in male breast cancer cases in breast cancer families. Nat Gen 1996; 13: 123-5.
  15. Cristofaro G, Lynch H, Caruso M et al. New phenotypic aspects in a family with Lynch syndrome II. Cancer 1987; 60: 51-8.
  16. Easton D, Ford D, Bishop D. Breast and ovarian cancer incidence in BRCA 1 mutation carriers. Am J Hum Genet 1995; 56: 265-71.
  17. Ford D, Easton D, Bishop D et al. Consortium BCL. Risk of cancer in BRCA 1 - mutation carriers. Lancet 1994; 343: 692-5.
  18. Ford D, Easton D, Stratton M et al. Genetic heterogeneity and penetrance analysis of the BRCA 1 and BRCA 2 genes in breast cancer families. Am J Hum Genet 1998; 62: 676-89.
  19. Friedman L, Szabo C, Ostermeyer E et al. Novel inherited mutations and variable expressivety of BRCA 1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am J Hum Genet 1995; 57: 1284-97.
  20. Gayther S. Frequently occring germ line mutations of BRCA 1 gene. Am J Hum Genet 1997; 60: 1013-20.
  21. Goldar D, Neuhausen S, Steele L et al. A 45-year follow - up of kindred 107 and the search for BRCA 2. J Natl Cancer Inst 1995; 17: 15-9.
  22. Gorski B, Debniak T, Masojc B et al. Germline 657del5 mutation in the NBS1 gene in breast cancer patients. BCLC Familial Cancer 2003; 2: 214-5.
  23. Holt J, Thompson M, Szabo C et al. Growth retardation and tumor inhibition by BRCA 1. Nature Genetics 1996; 12: 298-302.
  24. Jensen R, Thompson M et al. BRCA 1 is increted and exhibit properties of a granin. Nat Genet 1996; 12: 303-8.
  25. Johannson O, Idvall I, Anderson C et al. Tumor biological features of BRCA 1-inducted breast and ovarian cancer. Eur J Cancer 1997; 33: 362-71.
  26. Johannson O, Ranstam J, Borg A et al. Survival of BRCA 1 breast and ovarian cancer patients: a population - based study from southern Sweden. J Clin Oncol 1998; 16: 397-404.
  27. Johannsson O, Loman N, Moller U et al. Incidence of malignant tumours in relatives of BRCA 1 and BRCA 2 germline mutation carriers. Eur J Cancer 1999; 35: 1248-57.
  28. Lakhani S, Sloane J, Gusterson B et al. A detailed analysis of the morfological features associated with breast cancer in patients harbouring mutations in BRCA1 and BRCA2 predisposition genes. J Natl Cancer Inst 1999; 90: 1138-45.
  29. Li F, Fraumeni J, Mulvihill J et al. A cancer family syndrome in twenty - four kindreds. Cancer Res 1988; 91: 259.
  30. Liaw D, Marsh D, Li J et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrom. Nat Genet 1997; 16: 64.
  31. Loman N, Johannson O, Bendahl O et al. Steroid receptors in hereditary breast carcinomas associated with BRCA 1 or BRCA 2 mutations or unknown susceptibility genes. Cancer 1998; 83: 310-9.
  32. Malkin D, Li F, Strong L et al. Germ - line p53 mutations in a familial syndrome of breast cancer, sarcomas and othe neoplasms. Science 1990; 250: 1233.
  33. Marcus J, Watson P, Page D et al. Hereditary breast cancer pathobiology, prognosis, and BRCA1 and BRCA 2 gene linkage. Cancer 1996; 77: 697-709.
  34. Marcus J, Watson P, Page D et al. BRCA 2 hereditary breast cancer phenotype. Breast Cancer Res Treat 1997; 44: 275-7.
  35. Miki Y, Swensen J, Shattuck-Eidens D et al. A Strong candidate for the breast and ovarian cancer susceptibility gene BRCA 1. Science 1994; 266: 66.
  36. Nathanson K, Wooster R, Weber B et al. Breast cancer genetics: what we know and what we need. Nat Med 2001; 7: 552-6.
  37. Nevanlinna H. CHEK2 gene. BCLC Familial Cancer 2003; 2: 186.
  38. Newman B, Austin M, King M. Inheritance of human breast cancer. Evidance for autosomal dominant transmission in high - risk families. Proc Nat Acad Sci USA 1988; 85: 3044-8.
  39. Sato T, Akiyama F, Sakamoto G et al. Accumulation of genetic alterations and progression of primary breast cancer. Cancer Res 1991; 51: 5794-57.
  40. Seal S, Barfoot R, Jayatilake H, et al. Evaluation of Fanconi Anemia in familial breast cancer. BCLC Familial cancer 2003; 2: 212-3.
  41. Stoppa-Lyonnet D, Ansquer Y, Dreyfus H et al. Familial Invasive Breast Cancers: Worse Outcome Related to BRCA1 Mutations. JСO 2000; 18: 4053-9.
  42. Stoppa-Lyonnet D, Hall J, janin N et al. Low - penetrance genes: heterozygote ATM mutation carriers and breast cancer risk. BCLC Familial Cancer 2003; 2: 185-6.
  43. Szabo C, King M-C. Population genetics of BRCA 1 and BRCA 2. Am J Hum Genet 1997; 60: 1013-20.
  44. Szabo C, Neuhausen S, Devilee P et al. BRCA 1 founder mutations: population genetics and genome evolution. BCLC Familial Cancer 2003; 2: 177-8.
  45. Tomlinson I, Rahman N, Frayling I et al. Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-22. Gastroenterology 1999; 116: 789-95.
  46. Thorlacius S, Struewing J, Hartge P et al. Population - based study of risk of breast cancer in carriers of BRCA 2 mutation. Lancet 1998; 352: 1337-9.
  47. Venkitaraman A. Breast cancer genes and DNA repair. Science 1999; 286: 1100-02.
  48. Verhoog L, Brekelmans C, Seynaeve C et al. Survival and tumor chracteristics of breast cancer patients with germline mutations of BRCA 1. Lancet 1998; 351: 316-21.
  49. Verhoog L, Brekelmans C, Seynaeve C et al JCO 1999; 17: 3396-402.
  50. Whittemore A, Gong G, Itnyre J. Prevalence and contribution of BRCA 1 mutations in breast cancer and ovarian cancer: resalts from three US population - based case - control studies of ovarian cancer. Am J Hum Genet 1997; 60: 496-504.
  51. Williams W, Anderson D. Genetic epidemiology of breast cancer analysis of 200 Danish pedigrees. Genet Epidem 1984; 1: 7-20.
  52. Williams W et al. Cancer of the male breast based on the records of 100 cases. Lancet 1889; 2: 261.
  53. Wooster R, Bignell G, Lancaster J et al. Identification of the breast cancer susceptibility gene BRCA 2.Nature. 1995; 378: 789-92.

Copyright (c) 2004 Consilium Medicum

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
 


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies