Genetic susceptibility to breast cancer;Genetická predispozice ke vzniku maligního nádoru prsu

Klinicka Onkologie

Volumn 19, Issue SUPPL., 2006, Pages 48-54

  Machackova E ^a   Plevova P ^a,b   Lukesova M ^a   Vasickova P ^a   Silhanova E ^a   Foretova L ^a  

^a Masarykûv Onkologický Ústav ^*  (Czech Republic)

^b PALACKÝ UNIVERSITY   (Czech Republic)

Author keywords

BRCA1; BRCA2; Breast cancer; Genetic susceptibility; Ovarian cancer

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CISPLATIN; GONADORELIN AGONIST; MITOMYCIN; PROTEIN P53; TAMOXIFEN; TAXANE DERIVATIVE;

ADJUVANT CHEMOTHERAPY; APOPTOSIS; ARTICLE; BREAST CANCER; CANCER PREVENTION; CANCER RISK; CLINICAL FEATURE; CYTOTOXICITY; DISEASE ASSOCIATION; FAMILIAL CANCER; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; MASTECTOMY; OVARIECTOMY; OVARY CANCER;

EID: 33751022477     PISSN: 0862495X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (83)

1. Vogel V. Assessing risk of breast cancer. Tools for evaluating a patient#s 5-year and lifetime probabilities. Postgraduate Medicine 1999, 105:49-58.
2. Claus EB, Risch NR, Thompson WD. The calculation of breast cancer risk for women with a first degree family history of ovarian cancer. Breast Cancer Res. Treatment 1993; 28:115-120.
3. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early onset breast cancer: Implications for risk prediction. Cancer 1994; 73:643-651.
4. Newman B, Austin MA, Lee M, et al. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high risk families. Proc. Natl. Acad. Sci. USA 1988; 85:3044-3048.
5. Dunning AM, Healey CS, Pharoah PD, et al. A systematic review of genetic polymorphisms and breast cancer risk. Cancer Epidemiol. Biomarkers Prev. 1999, 8:843-854.
6. De Jong MM, Nolte IM, te Meerman GJ, et al. Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J. Med. Genet. 2002, 39:225-242.
7. Dumitrescu RG, Cotarla I. Understanding breast cancer risk - where do we stand in 2005? J. Cell. Mol. 2005; 9:208-221.
8. Hall JM, Lee MK, Newman B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990; 250:1684-89.
9. Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the Breast and ovarian cancer susceptibility gene BRCA1. Science 1994; 266:66-71.
10. Wooster R, Neuhausen SL, Mangion J, et al. Localisation of a breast cancer susceptibility gene, BRCA2, to chromosome13q12-13. Science 1994; 265:2088-90.
11. Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995; 378:789-792.
12. Marquis ST, Rajan JV, Wynshaw-Boris A, et al. The developmental pattern of BRCA1 expression implies a role in differentiation of the breast and other tissues. Nat. Genet. 1995; 11:17-26.
13. Gudas JM, Li T, Nguyen H, et al. Cell cycle regulation of BRCA1 messenger RNA in human breast epithelial cells. Cell Growth Differ. 1996; 7:717-723.
14. Spillman MA, Bowcock AM. BRCA1 and BRCA2 mRNA level are coordinately elevated in human breast cancer cells in response to estrogen. Oncogene 1996; 13:1639-1645.
15. Vaughn JP, Cirisano FD, Huper G, et al. Cell cycle control of BRCA2. Cancer Research 1996; 56:4590-4594.
16. Welcsh PL, King MC. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum. Mol. Genet. 2001; 10:705-713.
17. Venkitaraman AR. Functions of BRCA1 and BRCA2 in the biological response to DNA damage. Journal of Cell Science 2001; 114:3591-3598.
18. Wang Q, Zhang H, Guerrette S, Chen J, Mazurek A, Wilson T, Slupianek A, Skorski T, Fishel R, Greene MI. Adenosine nucleotide modulates the physical interaction between hMSH2 and BRCA1. Oncogene 2001;20:4640-9.
19. Venkitaraman AR. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 2002; 108:171-182.
20. Liu Y, West SC. Distinct functions of BRCA1 and BRCA2 in double-strand break repair. Brest Cancer Res. 2002; 4:9-13.
21. Yoshida K, Miki Y. Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage. Cancer Sci. 2004; 95:866-871.
22. Kinzler KW, Vogelstein B. Cancer-susceptibility genes. Gatekeepers and caretakers. Nature 1997; 386:761-763.
23. Davies AA, Masson JY, McIlwraith et al. Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Mol. Cell 2001; 7:273-82.
24. Collins A, McManus R, Wooster R, et al. Consistent loss of the wild-type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene 1995; 10:1673-1675.
25. Cornelis RS, Neuhausen SL, Johansson O, et al. High allele loss rates at 17ql2-q21 in breast and ovarian tumors from BRCA1- linked families. Gen. Chromos. Cancer 1995; 13:203-210.
26. Friedman LS, Ostermeyer EA, Szabo CI, et al. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat. Genet. 1994; 8:399-404.
27. Spain BH, Larson CJ, Shihabuddin LS, et al. Truncated BRCA2 is cytoplasmic: Implications for cancer-linked mutations. Proc. Natl. Acad. Sci. USA 1999; 96:13920-13925.
28. Ford D, Easton DF, Bishop DT, et al. Risk of cancer in BRCA1 mutation carriers. Lancet 1994; 343:692-695.
29. Easton DF, Bishop DT, Breast Cancer Linkage Consortium. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am. J. Hum. Genet. 1995; 56:265-271.
30. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am. J. Hum. Genet. 1998; 62:676-689.
31. Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J. Natl. Cancer Inst. 1999; 91:1310-1316.
32. Thompson D, Easton D; Breast Cancer Linkage Consortium. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am. J. Hum. Genet. 2001; 68:410-419.
33. Brose MS, Rebbeck TR, Calzone KA, et al. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 2002; 94:1365-1372.
34. Thompson D, Easton DF; Breast Cancer Linkage Consortium. Cancer Incidence in BRCA1 mutation carriers. J Nat Cancer Inst 2002; 94:1358-1365.
35. 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. J. Hum. Genet 2003; 72:1117-1130.
36. Nathanson KL, Wooster R, Weber BL. Breast cancer genetics: what we know and what we need. Nat. Med. 2001; 7:552-556.
37. Gayther SA, Mangion J, Russel P, et al. Variation of risk of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat. Genet. 1997; 15:103-105.
38. Struewing J.P., Hartge P., Wacholder S. et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N. Engl. J. Med. 1997, 336:1401-1408.
39. Thorlacius S., Olafsdottir G., Tryggvadottir L. et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat. Genet. 1996, 13:117-119.
40. Narod et Offit. Prevention and management of hereditary breast cancer. J. Clin. Oncol. 2005; 23:1656-1663.
41. Wooster R et Weber BL. Breast and Ovarian Cancer. N Engl J Med 2003; 348:2339-47.
42. Nathanson KL, Weber BL. "Other" breast cancer susceptibility genes: seaching for more holy grail. Hum. Mol. Genet. 2001; 10:715-720.
43. Marcus JN, Watson P, Page DL, et al. Hereditary breast cancer: pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage. Cancer 1996; 77:697-709.
44. Shousha S. Medullary carcinoma of the breast and BRCA1 mutation. Histopathology 2000; 37:182-185.
45. Lakhani SR, Reis-Filho JS, Fulford L, et al. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin. Cancer. Res. 2005; 11:5175-5180.
46. Laakso M, Loman N, Borg A, et al. Cytokeratin 5/14-positive breast cancer: true basal phenotype confined to BRCA1 tumors. Mod. Pathol. 2005; Jul 1 (E-pub).
47. Osin PP et Lakhani SR. The pathology of familial breast cancer: Immunohistochemistry and molecular analysis. Breast Cancer Res. 1999; 1:36-40.
48. Lakhani SR, Van De Vijver MJ, Jacquemier J, et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER- 2, and p53 in patients with mutations in BRCA1 and BRCA2. J. Clin. Oncol. 2002; 20:2310-2318.
49. Grushko TA, Blackwood A, Schumm PL, et al. Molecular- cytogenetic analysis of HER-2/neu gene in BRCA1-associated breast cancers. Cancer Res. 2002; 62:1481-1488.
50. Phillips KA, Nichol K, Ozcelik H, et al. Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations. J. Natl. Cancer Inst. 1999; 91:469-473.
51. De Bock GH, Tollenaar RA, Papelard H, et al. Clinical and pathological features of BRCA1 associated carcinomas in a hospital-based sample of Dutch breast cancer patients. Br. J. Cancer. 2001; 85:1347-1350.
52. Fan S, Wang J, Yuan R, et al. BRCA1 inhibition of estrogen receptor signaling in transfected cells. Science 1999; 284:1354-1356.
53. Revillion F, Bonneterre J, Peyrat JP. ERBB2 oncogene in human breast cancer and its clinical significance. Eur. J. Cancer 1998; 34:791-808.
54. Quenneville LA, Phillips KA, Ozcelik H, et al. HER-2/neu status and tumor morphology of invasive breast carcinomas in Ashkenazi women with known BRCA1 mutation status in the Ontario Familial Breast Cancer Registry. Cancer 2002; 95:2068-2075.
55. Johannsson OT, Idvall I, Anderson C, et al. Tumour biological features of BRCA1-induced breast and ovarian cancer. Eur. J. Cancer, 1997; 33:362-371.
56. Park PC et De Boni U. A specific conformation of the territory of chromosome 17 locates ERBB-2 sequences to a DNase- hypersensitive domain at the nuclear periphery. Chromosoma 1998; 107:87-95.
57. Greenblatt MS, Chappuis PO, Bond JP, et al. TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution. Cancer Res. 2001; 61:4092-4097.
58. Lidereau R, Eisinger F, Champeme MH, et al. Major improvement in the efficacy of BRCA1 mutation screening using morphoclinical features of breast cancer. Cancer Res. 2000; 60:1206-1210.
59. Chang J, Hilsenbeck SG, Sng JH, et al. Pathological features and BRCA1 mutation screening in premenopausal breast cancer patients. Clin. Cancer Res. 2001; 7:1739-1742.
60. Robson ME, Boyd J, Borgen PI, et al. Hereditary breast cancer. Curr. Probl. Surg. 2001; 38:387-480.
61. Foulkes WD, Rosenblatt S, Chappuis PO. The contribution of inherited factors to the clinicopathological features and behaviour of breast cancer. J. Mammary Gland Biol. Neoplasia 2001; 6:453-465.
62. Robson ME, Chappuis PO, Satagopan J, et al. A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Res. 2004; 6:R8-17.
63. Collaborative Group on Hormonal Factors in Breast Cancer. Breast cancer and hormonal contraceptives: collaborative reanalysis of individual data on 53 297 women with breast cancer and 111 239 women without breast cancer from 54 epidemiological studies. Lancet 1996; 347:1713-1727.
64. Cass I, Baldwin R, Varkey T, et al. Improved survival in women with BRCA-associated ovarian cancer. Cancer 2003; 97:2187-2195.
65. Bartoňkova H, Foretová L, Helmichová E, et al. Doporučené zásady péče o nemocné s nádory prsu a vaječniků a zdravé osoby se zárodečnými mutacemi genů BRCA1 nebo BRCA2. Klinická onkologie 2003; 16:28-34.
66. Zikán M, Jančárková N, Pohlreich P, et al. Hereditární dispozice ke vzniku karcinomu prsu a ovaria. Čas. Lék. Česk. 2004; 143:26-30.
67. Jernstrom H, Lubinski J, Lynch HT, et al. Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J. Natl. Cancer Inst. 2004; 96:1094-1098.
68. Narod SA, Dube MP, Klijn J, et al. Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J. Natl. Cancer Inst. 2002; 94:1773-1779.
69. Narod SA, et al. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case- control study. Hereditary Breast Cancer Clinical Study Group. Lancet 2000; 356:1876-1881.
70. King MC, Wieand S, Hale K, et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA 2001; 286:2251-2256.
71. Rebbeck TR, Levin AM, Eisen A, et al. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J. Natl. Cancer Inst. 1999; 91:1475-1479.
72. Rebbeck TR, Lynch HT, Neuhausen SL, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N. Engl. J. Med. 2002; 346:1616-1622.
73. Vasen HFA, Tesfay E, Boonstra H, et al. Early detection of breast and ovarian cancer in families with BRCA mutations. Eur. J. Cancer 2005; 41:549-554.
74. 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. New Engl. J. Med. 2001; 345:159-164.
75. Bresser PJC, Van Gool AR, Seynaeve C, et al. Long-term psychosocial impact of prophylactic mastectomy and immediate breast reconstruction. Abstracts XVIth symposium of The Netherlands Foundation for the Detection of Hereditary Tumors. Familial Cancer 2003; 2:131-132.
76. Kerlikowske K, Carney PA, Geller B, et al. Performance of screening mammography among women with and without a first-degree relative with breast cancer. Ann. Intern. Med. 2000; 133:855-863.
77. Kuhl CK, Schrading S, Leutner CC, et al. Aurveillance of "high risk" women with proven or suspected familial (hereditary) breast cancer: First mid-term results of a multi-modality clinical screening trial. Proc. Am. Soc. Clin. Oncol. et al., 2003
78. Warner E, Plewes D, Hill K, et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound and mammography, and clinical breast examination. JAMA 2004; 292:1317-1325.
79. Kriege M, Brekelmans CT, Boetes C. Efficacy of MRI and mammography for breast cancer screening in women with a familial or genetic predisposition. N. Engl. J. Med. 2004; 351:427-437.
80. Liberman L, Morris EA, Benton CL, et al. Probably benign lesions at breast magnetic resonance imaging: preliminary experience in high-risk women. Cancer 2003; 98:377-388.
81. Yu VP, Koehler M, Steinlein C, et al. Gross chromosomal rearrangements and genetic exchange between nonhomologous chromosomes following BRCA2 inactivation. Genes Dev. 2000; 14:1400-1406.
82. Pierce LJ, Strawderman M, Narod SA, et al. Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. J. Clin. Oncol. 2000; 18:3360-3369.
83. Osborne CK. Tamoxifen in the treatment of breast cancer. N. Engl. J. Med. 1998; 339:1609-1618.