Status of the BRCA1 gene and incidence of hereditary ovarian cancer;Status genu BRCA1 a zachorowanie na dziedziczna̧ postać raka jajnika

Wspolczesna Onkologia

Volumn 14, Issue 2, 2010, Pages 72-78

  Synowiec, Agnieszka ^a   Wcisło, Gabriel ^a   Bodnar, Lubomir ^a   Szarlej Wcisło, Katarzyna ^a   Cieślak, Agata ^a   Sieluzycka, Joanna ^a   Szczylik, Cezary ^a  

^a MILITARY INSTITUTE OF MEDICINE   (Poland)

Author keywords

BRCA1; Founder effect mutations; Genetic tests; Ovarian cancer

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; PROTEIN P53;

CANCER INCIDENCE; CANCER PATIENT; CANCER RISK; FAMILIAL CANCER; FEMALE; GENE MUTATION; HUMAN; ONCOGENE; OVARY CANCER; REVIEW;

EID: 77954371671     PISSN: 14282526     EISSN: 14282526     Source Type: Journal    
DOI: 10.5114/wo.2010.13915     Document Type: Review

References (67)

1. Parkin DM, Bray F, Ferlay J, Pisani P. Global cancer statistics, 2002. CA Cancer J Clin 2005; 55: 74-108.
2. Wojciechowska U, Didkowska J, Zatoński W. Nowotwory złośliwe w Polsce w 2006 roku. Wyd. Centrum Onkologii. Warszawa 2008; 53, 66, 93, 105.
3. Lynch HT, Fusaro RM, Lynch J. Hereditary cancer in adults. Cancer Detect Prev 1995; 19: 219-33.
4. Boyd J, Rubin SC. Hereditary ovarian caner: molecular genetics and clinical implications. Gynecol Oncol 1997; 64: 196-206. (Pubitemid 27097566)
5. Weberpals JI, Clark-Knowles KV, Vanderhyden BC. Sporadic epithelial ovarian cancer: clinical relevance of BRCA1 inhibition in the DNA damage and repair pathway. J Clin Oncol 2008; 26: 3259-67.
6. Stawicka M, Godlewski D. Charakterystyka dziedzicznej formy raka jajnika. Współcz Onkol 1997; 3: 17-21.
7. Majdak E, Dȩbniak J, Emerich J. Dziedzicznie uwarunkowany rak jajnika - odrȩbna jednostka chorobowa? Ginekol Pol 2003; 74: 557-64.
8. McGillivray B, Hayden M. Zaburzenia jednogenowe. W: Genetyka. Friedman JM, Dill FJ, Hayden MR i wsp. Janusz Limon (red.). Wyd. 1 polskie. Urban & Partner, Wrocław 1997; 61-6.
9. Boyd J. Specific keynote: Hereditary ovarian cancer: what we know. Gynecol Oncol 2003; 88: S8-S10.
10. Marshall M, Solomon S. Hereditary breast-ovarian cancer: clinical findings and medical management. Plast Surg Nurs 2007; 27: 124-7.
11. Gronwald J, Byrski T, Huzarski i wsp. Genetyka kliniczna raka piersi i jajnika. W: Genetyka kliniczna nowotworów. Lubiński J (red.). Wyd. Print Group 2008; 57-77.
12. Russo A, Calò V, Bruno L, Rizzo S, Bazan V, Di Fede G. Hereditary ovarian cancer. Crit Rev Oncol Hematol 2009; 69: 28-44.
13. Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ. Hereditary factors in cancer. Study of two large midwestern kindreds. Arch Intern Med 1966; 117: 206-12.
14. Boland CR. Hereditary nonpolyposis colorectral cancer. In: The genetics basis of human cancer. Vogelstein B, KW Kinzler KW (eds.). The McGraw-Hill, New York 1998; 333-46.
15. th Edition. DeVita VT, S Hellman S, Rosenberg SA (eds). Lippincott Williams & Wilkins, London 2005; 1364-97.
16. Vasen HFA, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991; 34: 424-5.
17. Dȩbniak T, Lubiński J. Zasady dziedziczenia predyspozycji do nowotworów. W: Genetyka kliniczna nowotworów 2008. Lubiński J (red.). Wyd. Print Group 2008; 11-6.
18. Cannistra SA. Cancer of the ovary. N Engl J Med 2004; 351: 2519-29.
19. Kennedy RD, Quinn JE, Mullan PB, Johnston PG, Harkin DP. The role of BRCA1 in the cellular response to chemotherapy. J Natl Cancer Inst 2004; 96: 1659-68.
20. Menkiszak J, Gronwald J, Górski B, et al. Hereditary ovarian cancer in Poland. Int J Cancer 2003; 106: 942-5.
21. Brozek I, Ochman K, Debniak J, et al. High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland. Gynecologic Oncology 2008; 108: 433-7. (Pubitemid 351174286)
22. Tan D SP, Rothermundt Ch, Thomas K, et al. "BRCAness" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. J Clin Oncol 2008; 26: 5530-6.
23. Mohamad HB, Apffelstaedt JP. Counseling for male BRCA mutation carriers - a review. Breast 2008; 17: 441-450.
24. Vogelstein B, Lane D, Levine AJ. Surfing the p53 network. Nature 2000; 408: 307-10.
25. Feki A, Irminger-Finger I. Mutational spectrum of p53 mutations in primary breast and ovarian tumors. Crit Rev Oncol Hematol 2004; 52: 103-16. (Pubitemid 39419493)
26. Shih le-M, Kurman R. Ovarian tumorogenesis: a proposed model based on morphological and molecular genetic analysis. Am J Pathol 2004; 164: 1511-8.
27. Klemi PJ, Pylkkänen L, Kiilholma P, Kurvinen K, Joensuu H. p53 protein detected by immunohistochemistry as a prognostic factor in patients with epithelial ovarian carcinoma. Cancer 1995; 76: 1201-8.
28. Green JA, Berns EM, Coens C, et al.; EORTC Gynaecological Cancer Group. Alterations in the p53 pathway and prognosis in advanced ovarian cancer: a multifactorial analysis of the EORT Gynaecological Cancer Group (study 55865). Eur J Cancer 2006; 42: 2539-48.
29. Havrilesky L, Darcy M, Hamdan H, Priore RL, Leon J, Bell J, Berchuck A; Gynecologic Oncology Group Study. Prognostic significance of p53 mutation and p53 overexpression in advanced epithelial ovarian cancer: a Gynecologic Oncology Group Study. J Clin Oncol 2003; 21: 3814-25. (Pubitemid 46606237)
30. Friedrichsen DM, Malone KE, Doody DR, Daling JR, Ostrander EA. Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women. Breast Cancer Res 2004; 6: R629-635.
31. Cybulski C, Huzarski T, Górski B, et al. A novel founder CHEK2 mutation in associated with increased prostate cancer risk. Cancer Res 2004; 64: 2677-9.
32. Szymanska-Pasternak J, Szymanska A, Medrek K, et al. CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors. Gynecol Oncol 2006; 102: 429-31.
33. ACOG Practice Bulletin: Hereditary breast and ovarian cancer syndrome. Gynecol Oncol 2009; 113: 6-11.
34. Eccles DM. Hereditary cancer: guidelines in clinical practice. Breast and ovarian cancer genetics. Ann Oncol 2004; 15(4 suppl 4): ivv133-8.
35. Drayna D. Mutacje załżycielskie. Świat Nauki 2005; 34-41.
36. Robles-Díaz L, Goldfrank DJ, Kauff ND, Robson M, Offit K. Hereditary ovarian cancer in Ashkenazi Jews. Fam Cancer 2004; 3: 259-64. (Pubitemid 39491743)
37. Ferla R, Calo V, Cassio S, et al. Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol 2007; 18 (suppl 6): vi93-98.
38. Górski B, Byrski T, Huzarski T, et al. Founder mutations in the BRCA1 gene in Polish families with breast - ovarian cancer. Am J Hum Genet 2000; 66: 1963-8.
39. Van Der Looij, Szabo C, Besznyak I, et al. Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary. Int J Cancer 2000; 86: 737-40. (Pubitemid 30249888)
40. Sarantaus L, Vahteristo P, Bloom E, Tamminen A, Unkila-Kallio L, Butzow R, Nevanlinna H. BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients. Eur J Hum Genet 2001; 9: 424-30. (Pubitemid 32586065)
41. Suspitsin EN, Sherina NY, Ponomarinova DN, et al. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hered Cancer Clin Prac 2009; 7: 5.
42. Papi L, Putignano AL, Congregati C, et al. Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. Breast Cancer Res Treat 2009; 117: 497-504.
43. Khoo US, Chan KY, Cheung AN, et al. Recuurent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation BRCA1 identified in the Chinese population. Hum Mutat 2002; 19: 307-8.
44. Tonin PN. The limited spectrum of pathogenic BRCA1 and BRCA2 mutations in the French Canadian breast and breast-ovarian cancer families, a founder population of Quebec, Canada. Bull Cancer 2006; 93: 841-6.
45. 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: 1694-706.
46. Simard J, Dumont M, Moisan AM, et al. Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. J Med Genet 2007; 44: 107-21.
47. Neuhausen SL. Founder populations and their uses for breast cancer genetics. Breast Cancer Res 2000; 2: 77-81.
48. Thomassen M, Hansen TV, Borg A, et al. BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. Acta Oncol 2008; 47: 772-7. (Pubitemid 351878455)
49. Allain DC, Sweet K, Agnese DM. Management options after prophylactic surgeries in women with BRCA1 mutations: a review. Cancer Control 2007; 14: 330-7. (Pubitemid 350272894)
50. Offit K. BRCA mutation frequency and penetrance: new date, old debate. J Natl Cancer Inst 2006; 98: 1675-7. (Pubitemid 44942706)
51. Brose MS, Rebbeck TR, Calzone KA, Stopfer JE, Nathanson KL, Weber BL. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 2002; 94: 1365-72.
52. Antoniou AC, Pharoah PD, Narod S, et al. Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet 2005; 42: 602-3.
53. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA-1 mutations carriers. Breast Cancer Linkage Consortium. Lancet 1994; 343: 692-5.
54. Rebbeck TR, Lynch HT, Neuhausen SL, et al.; Prevention and Observation of Surgical End Points Study Group. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002; 346: 1616-22.
55. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007; 25: 1329-33.
56. Al-Mulla F, Bland JM, Serratt D, Miller J, Chu C, Taylor GT. Age-dependent penetrance of different germline mutations in the BRCA1 gene. J Clin Pathol 2009; 62: 350-6.
57. Gorski B, Menkiszak J, Gronwald J, Lubinski J, Narod SA. A protein truncating BRCA1 allele with a low penetrance of breast cancer. J Med Genet 2004; 41: e130 (doi: 10.1136/jmg.2004.019430).
58. Wang WW, Spurdle AB, Kolachana P, et al. A single nucleotide polymorphism in the 5′ untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers. Cancer Epidemiol Biomarkers Prev 2001; 10: 955-60.
59. Levy-Lahad E, Lahad A, Eisenberg S, et al. A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers. Proc Natl Acad Sci USA 2001; 98: 3232-6.
60. Antoniou AC, Sinilnikova OM, Simard J, et al. RAD51 135G→C modifies breast cancer risk among BRCA2 mutations carriers: results from a combined analysis of 19 studies. Am J Hum Genet 2007; 81: 1186-200.
61. Jakubowska A, Narod SA, Goldgar DE, et al. Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland. Cancer Epidemiol Biomarkers Prev 2003; 12: 457-9. (Pubitemid 36578485)
62. Jakubowska A, Gronwald J, Menkiszak J, et al. The RAD51 135 G>C polymorphism modifies breast cancer and ovarian cancer risk in Polish BRCA1 mutation carriers. Cancer Epidemiol Biomarkers Prev 2007; 16: 270-5. (Pubitemid 46383345)
63. Lacour RA, Daniels MS, Westin SN, et al. What women with ovarian cancer think and know about genetic testing. Gynecol Oncol 2008; 111: 132-6.
64. Carroll JC, Cremin C, Allanson J, et al. Hereditary breast and ovarian cancers. Can Fam Physican 2008; 54: 1691-2.
65. Litwiniuk M, Karolczak G, Brȩborowicz E. Informacje prasowe a rzeczywiste możliwości poradnictwa genetycznego w aspekcie psychoonkologicznym. Współcz Onkol 2006; 10: 313-5. (Pubitemid 44355495)
66. Direct-to-consumer genetic tests: flawed and unethical. Lancet Oncol 2008; 9: 1113.
67. Ng PC, Murray SS, Levy S, Venter JC. An agenda for personalized medicine. Nature 2009; 461: 724-6.