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Аллельные варианты в генах BRCA1, BRCA2, TP53, ассоциированные с развитием рака молочной железы
Аллельные варианты в генах BRCA1, BRCA2, TP53, ассоциированные с развитием рака молочной железы
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Аннотация
Наследственный рак молочной железы (НРМЖ) – заболевание с выраженной генотипической и фенотипической гетерогенностью. В современном аспекте проблемы наследственного рака молочной железы наиболее значимым и перспективным считается идентификация и изучение молекулярно-генетических маркеров наследственной предрасположенности к раку молочной железы. К ним относятся мутации и полиморфные варианты в генах BRCA1, BRCA2 и ТР53. На сегодняшний день идентифицировано более 1536 различных полиморфизмов в гене BRCA1 и около 1885 в гене BRCA2, однако их клиническая значимость изучена недостаточно. Работа посвящена анализу влияния аллельных вариантов в генах BRCA1, BRCA2, TP53 на риск развития и клинические особенности рака молочной железы.
Ключевые слова: рак молочной железы, наследственный рак молочной железы, спорадический рак молочной железы, однонуклеотидные полиморфизмы, BRCA1, BRCA2, TP53, рак яичника.
Key words: breast cancer, hereditary breast cancer, sporadic breast cancer, single nucleotide polymorphism, BRCA1, BRCA2, TP53, ovarian cancer.
Ключевые слова: рак молочной железы, наследственный рак молочной железы, спорадический рак молочной железы, однонуклеотидные полиморфизмы, BRCA1, BRCA2, TP53, рак яичника.
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Key words: breast cancer, hereditary breast cancer, sporadic breast cancer, single nucleotide polymorphism, BRCA1, BRCA2, TP53, ovarian cancer.
Полный текст
Список литературы
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12. Campeau PM, Foulkes WD, Tischkowitz MD. Hereditary breast cancer: New genetic developments, new therapeutic avenues. Human Genetics 2008; 124: 31–42.
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14. Карпухин А.В., Логинова А.Н., Хомич Е.Н., Поспехова Н.И. Наследственная предрасположенность к раку молочной железы. Мед. генетика. 2002; 1: 254–61.
15. Petitjean A, Achatz M, Borresen-Dale A. TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes. Oncogene 2007; 26 (15): 2157–65.
16. Поспехова Н.И. Комплексный анализ наследственной формы рака молочной железы и/или яичников: молекулярно-генетические и фенотипические характеристики. Автореф. 2010.
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18. Einbeigi Z, Bergman A, Kindblom LG et al. A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer. Eur J Cancer 2001; 37: 1904–9.
19. Peelen T, van Viet M, Petrij-Bosch A et al. A high proportion of novel mutations in BRCA1 with strong fouder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet 1997; 60: 1041–9.
20. Baudi F, Quaresima B, Grandinetti C. Evidence of founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer. Hum Mutat 2001; 18: 163–4.
21. Поспехова Н.И., Логинова А.Н., Любченко Л.Н. и др. Молекулярно-генетические аспекты наследственной предрасположенности к раку молочной железы и/или яичников. С чем связана различная локализация рака при мутациях в генах BRCA. Мед. генетика. 2005; 1: 23–7.
22. Pharoah PD, Tyrer J, Dunning AM, Easton DF et al. Association between common variation in 120 candidate genes and breast cancer risk. PLoS Genet 2007; 3: 42.
23. Fuks F, Milner J, Kouzarides T. BRCA2 associates with acetyltransferase activity when bound to P/CAF. Oncogene 1998; 17: 2531–4.
24. Hughe D, Ginolthac S, Coupret A. Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. Cancer Epidemiol Biomark Prev 2006; 14 (1): 265–7.
25. Spurdle AB, Hopper JL, Chen X et al. The BRCA2 372 HH-genotype is associated with risk of breast cancer in Australian women under age 60 years. Cancer Epidem Biomark Prev 2002; 11: 413–6.
26. Palli D, Falchetti M, Masala G et al. Association between the BRCA2 N372H variant and male breast cancer risk: a population-based case-control study in Tuscany. Central Italy. BMC Cancer 2008; 7: 170.
27. Hadjisavvas A, Adamou A, O'Dowd Phanis C. Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family. Oncol Rep 2002; 9 (2): 383–6.
28. Dunning AM, Chiano M, Smith NR. Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population. Hum Mol Genet 1997; 6 (2): 285–9.
29. Garcia-Closas M, Egan KM, Newcomb PA et al. Polymorphisms in DNA double-stand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, meta-analyses. Genet 2006; 119: 376–88.
30. Ishitobi M, Miyoshi Y, Ando A, Hasegawa S et al. Association of BRCA2 polymorphism at codon 784 (Met/Val) with breast cancer risk and prognosis. Clin Cancer Res 2003; 9: 1376–80.
31. Auranen A, Spurdle AB, Chen X. BRCA2 Arg372 His polymorphism and epithelial ovarian cancer risk. Int J Cancer 2003; 103: 427–30.
32. Wenham RM, Schildkraut JM, McLean K et al. Polymorphisms in BRCA1 and BRCA2 and risk of epithelial ovarian cancer. Clin Cancer Res 2003; 9: 4396–403.
33. Zhoucun A, Zhang S, Yang Y et al. The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia. Eur J Obstet Gynecol Reprod Biol 2006; 124: 61–4.
34. Denisov EV, Cherdyntseva NV, Litvyakov NV et al. TP53 mutations and Arg72Pro polymorphism in breast cancers. Cancer Genet Cytogenet 2009; 192: 93–5.
35. Costa S, Pinto D, Pereira D, Rodrigues H. Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer. BMC Cancer 2008; 8: 32.
36. Wang-Gohrke S, Becher H, Kreienberg R et al. Intron 3 16 bp duplication polymorphism of p53 is associated with an increased risk for breast cancer by the age of 50 years. Pharmacogen 2002; 12: 269–72.
37. Osorio A, Martínez-Delgado B, Pollán M et al. A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers. Hum Mutat 2006; 27: 242–8.
38. Cavallone L, Arcand SL, Maugard C. Haplotype analysis of TP53 polymorphism, Arg72Pro and Ins16, in BRCA1 and BRCA2 mutation carriers of French Canadian descent. BMC Cancer 2008; 10: 96.
39. Lazar V, Hazard F, Bertin F et al. Simple sequence repeat polymorphism within the p53 gen. Oncogene 1993; 8: 1703–5.
40. Перельмутер В.М., Завьялова М.В., Вторушин С.В. Генетические и клинико-патологические особенности рака молочной железы у больных с сохраненной менструальной функцией и в менопаузе. Успехи геронтологии. 2000; 21 (4): 643–53.
41. Rodier F, Campisi J, Bhaumic D. Two faces of p53: aging and tumor suppression. Nucleic Acid Res 2007; 35: 7475–84.
42. Healey CS, Dunning AM, Teare MD et al. A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Nat Genet 2000; 26: 362–4.
43. Kotar K, Brunet JS, Møller P et al. Ratio of female to male offspring of women tested for BRCA1 and BRCA2 mutations. J Med Genet 2004; 41: 103.
44. Huttley GA, Easteal S, Southey MC et al. Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Australian Breast Cancer Family Study. Nat Genet 2000; 25: 410–3.
45. Kay C, Jeyendran RS, Coulam CB. P53 tumour suppressor gene polymorphism is associated with recurrent implantation failure. Reprod Biomed Online 2006; 13: 492–6.
2. Breast Cancer Linkage Consortium (BCLC). Familial Cancer 2003; 2: 18–32.
3. Гарькавцева Р.Ф., Казубская Т.П., Любченко Л.Н. Наследственный рак: идентификация, генетическая гетерогенность, медико-генетическое консультирование. Вестн. РАМН. 2001; 9: 27–32.
4. Rahman N, Scott RH. Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players. Hum Mol Genet 2007; 1: 60–6.
5. Walsh T, Casadei S, Coats KH et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2 and TP53 in families at high risk of breast cance. JAMA 2006; 295: 1379–88.
6. Weischer M, Bojesen SE, Tybjaerg-Hansen A et al. Increased risk of breast cancer associated with CHEK2 1100delC. J Clin Oncol 2008; 26: 3092–4.
7. Lynch HT, Silva E, Snyder C, Lynch JF. Hereditary breast cancer: Part I. Diagnosing hereditary breast cancer syndromes. Breast J 2008; 14: 3–13.
8. Kadouri L, Hubert A, Rotenberg Y et al. Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations. J Med Genet 2007; 44: 467–71.
9. Sakorafas GH, Krespis E, Pavlakis G. Risk estimation for breast cancer development; clinical perspective. Surg Oncol 2002; 10: 183–92.
10. BIC date base online. http://www.nchgr.nih.gov/bic
11. Любченко Л.Н., Портной С.М., Поспехова Н.И. и др. Клинико-молекулярные аспекты наследственного рака молочной железы. Молекул. мед. 2007; 1: 8.
12. Campeau PM, Foulkes WD, Tischkowitz MD. Hereditary breast cancer: New genetic developments, new therapeutic avenues. Human Genetics 2008; 124: 31–42.
13. Ruijs MW, Verhoef S, Rookus MA et al. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet 2010; 47: 421–8.
14. Карпухин А.В., Логинова А.Н., Хомич Е.Н., Поспехова Н.И. Наследственная предрасположенность к раку молочной железы. Мед. генетика. 2002; 1: 254–61.
15. Petitjean A, Achatz M, Borresen-Dale A. TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes. Oncogene 2007; 26 (15): 2157–65.
16. Поспехова Н.И. Комплексный анализ наследственной формы рака молочной железы и/или яичников: молекулярно-генетические и фенотипические характеристики. Автореф. 2010.
17. PDQR Cancer Information Summary. National Cancer Institute; Bethesda, MD. Genetics of Breast and Ovarian Cancer (PDQR) – Health Professional. http://www.cancer.gov/cancertopics/pdg/genetics/breast-and-ovarian/healthprofessional
18. Einbeigi Z, Bergman A, Kindblom LG et al. A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer. Eur J Cancer 2001; 37: 1904–9.
19. Peelen T, van Viet M, Petrij-Bosch A et al. A high proportion of novel mutations in BRCA1 with strong fouder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet 1997; 60: 1041–9.
20. Baudi F, Quaresima B, Grandinetti C. Evidence of founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer. Hum Mutat 2001; 18: 163–4.
21. Поспехова Н.И., Логинова А.Н., Любченко Л.Н. и др. Молекулярно-генетические аспекты наследственной предрасположенности к раку молочной железы и/или яичников. С чем связана различная локализация рака при мутациях в генах BRCA. Мед. генетика. 2005; 1: 23–7.
22. Pharoah PD, Tyrer J, Dunning AM, Easton DF et al. Association between common variation in 120 candidate genes and breast cancer risk. PLoS Genet 2007; 3: 42.
23. Fuks F, Milner J, Kouzarides T. BRCA2 associates with acetyltransferase activity when bound to P/CAF. Oncogene 1998; 17: 2531–4.
24. Hughe D, Ginolthac S, Coupret A. Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. Cancer Epidemiol Biomark Prev 2006; 14 (1): 265–7.
25. Spurdle AB, Hopper JL, Chen X et al. The BRCA2 372 HH-genotype is associated with risk of breast cancer in Australian women under age 60 years. Cancer Epidem Biomark Prev 2002; 11: 413–6.
26. Palli D, Falchetti M, Masala G et al. Association between the BRCA2 N372H variant and male breast cancer risk: a population-based case-control study in Tuscany. Central Italy. BMC Cancer 2008; 7: 170.
27. Hadjisavvas A, Adamou A, O'Dowd Phanis C. Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family. Oncol Rep 2002; 9 (2): 383–6.
28. Dunning AM, Chiano M, Smith NR. Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population. Hum Mol Genet 1997; 6 (2): 285–9.
29. Garcia-Closas M, Egan KM, Newcomb PA et al. Polymorphisms in DNA double-stand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, meta-analyses. Genet 2006; 119: 376–88.
30. Ishitobi M, Miyoshi Y, Ando A, Hasegawa S et al. Association of BRCA2 polymorphism at codon 784 (Met/Val) with breast cancer risk and prognosis. Clin Cancer Res 2003; 9: 1376–80.
31. Auranen A, Spurdle AB, Chen X. BRCA2 Arg372 His polymorphism and epithelial ovarian cancer risk. Int J Cancer 2003; 103: 427–30.
32. Wenham RM, Schildkraut JM, McLean K et al. Polymorphisms in BRCA1 and BRCA2 and risk of epithelial ovarian cancer. Clin Cancer Res 2003; 9: 4396–403.
33. Zhoucun A, Zhang S, Yang Y et al. The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia. Eur J Obstet Gynecol Reprod Biol 2006; 124: 61–4.
34. Denisov EV, Cherdyntseva NV, Litvyakov NV et al. TP53 mutations and Arg72Pro polymorphism in breast cancers. Cancer Genet Cytogenet 2009; 192: 93–5.
35. Costa S, Pinto D, Pereira D, Rodrigues H. Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer. BMC Cancer 2008; 8: 32.
36. Wang-Gohrke S, Becher H, Kreienberg R et al. Intron 3 16 bp duplication polymorphism of p53 is associated with an increased risk for breast cancer by the age of 50 years. Pharmacogen 2002; 12: 269–72.
37. Osorio A, Martínez-Delgado B, Pollán M et al. A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers. Hum Mutat 2006; 27: 242–8.
38. Cavallone L, Arcand SL, Maugard C. Haplotype analysis of TP53 polymorphism, Arg72Pro and Ins16, in BRCA1 and BRCA2 mutation carriers of French Canadian descent. BMC Cancer 2008; 10: 96.
39. Lazar V, Hazard F, Bertin F et al. Simple sequence repeat polymorphism within the p53 gen. Oncogene 1993; 8: 1703–5.
40. Перельмутер В.М., Завьялова М.В., Вторушин С.В. Генетические и клинико-патологические особенности рака молочной железы у больных с сохраненной менструальной функцией и в менопаузе. Успехи геронтологии. 2000; 21 (4): 643–53.
41. Rodier F, Campisi J, Bhaumic D. Two faces of p53: aging and tumor suppression. Nucleic Acid Res 2007; 35: 7475–84.
42. Healey CS, Dunning AM, Teare MD et al. A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Nat Genet 2000; 26: 362–4.
43. Kotar K, Brunet JS, Møller P et al. Ratio of female to male offspring of women tested for BRCA1 and BRCA2 mutations. J Med Genet 2004; 41: 103.
44. Huttley GA, Easteal S, Southey MC et al. Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Australian Breast Cancer Family Study. Nat Genet 2000; 25: 410–3.
45. Kay C, Jeyendran RS, Coulam CB. P53 tumour suppressor gene polymorphism is associated with recurrent implantation failure. Reprod Biomed Online 2006; 13: 492–6.
Авторы
К.В.Сытенкова1, Ж.М.Гузиева1, М.П.Казаков1, Л.Н.Любченко2, И.В.Поддубная1
1 Кафедра онкологии ГБОУ ДПО РМАПО Минздравсоцразвития РФ, Москва
2 РОНЦ им. Н.Н.Блохина РАМН, Москва
1 Chair of Oncology, Russian Medical Academy for Postgraduate Training, RF Health Agency, Moscow
2 N.N.Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences, Moscow
1 Кафедра онкологии ГБОУ ДПО РМАПО Минздравсоцразвития РФ, Москва
2 РОНЦ им. Н.Н.Блохина РАМН, Москва
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1 Chair of Oncology, Russian Medical Academy for Postgraduate Training, RF Health Agency, Moscow
2 N.N.Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences, Moscow
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