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  • 1 NAGY GÉN Diagnosztikai és Kutatási Kft. Budapest
  • | 2 Semmelweis Egyetem, Általános Orvostudományi Kar I. Szülészeti és Nőgyógyászati Klinika Budapest Baross utca 27. 1088
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A prediktív onkogenetikai tanácsadás jelentős távlatokat nyithat a BRCA-mutáció kapcsán kialakuló emlő- és petefészekrák diagnosztikáját és kezelését illetően. A BRCA-mutáció-hordozó nők klinikai ellátásának protokollja sokkal inkább szakmai állásfoglalásokon, semmint randomizált klinikai vizsgálatokon alapul. A megelőzés, a korai diagnózis és a kezelés lehetőségeiről a pácienst minden esetben a legnagyobb részletességgel kell tájékoztatni; az onkogenetikai tanácsadáshoz kapcsolódóan a klinikai ellátás során multidiszciplináris szakembergárda (genetikus, onkológus, sebész, szülész-nőgyógyász) részvétele hangsúlyosan javasolt. A beteg döntéshozatalát a kapott információkon túl jelentősen befolyásolja a családban előfordult daganatos betegségekkel kapcsolatos saját élményanyag csakúgy, mint a személyes értékrend és a megfogalmazott életcélok. A BRCA-mutáció-hordozók célzott klinikogenetikai ellátásának vezérfonalát prospektív vizsgálatok eredményei nyújtják, s ez biztosítja igazából e komplex ellátási forma hatékonyságát. Orv. Hetil., 2011, 152, 913–918.

  • Jernström, H., Lerman, C., Ghadirian, P. és mtsai: Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2. Lancet, 1999, 54, 1846–1850.

    Ghadirian P. , 'Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2 ' (1999 ) 54 Lancet : 1846 -1850.

    • Search Google Scholar
  • Brunet, J. S., Ghadirian, P., Rebbeck, T. R. és mtsai: Effect of smoking on breast cancer in carriers of mutant BRCA1 or BRCA2 genes. J. Natl. Cancer Inst., 1998, 90, 761–766.

    Rebbeck T. R. , 'Effect of smoking on breast cancer in carriers of mutant BRCA1 or BRCA2 genes ' (1998 ) 90 J. Natl. Cancer Inst. : 761 -766.

    • Search Google Scholar
  • Lesko, S. M., Rosenberg, I., Kaufman, D. W. és mtsai: Cigarette smoking and the risk of endometrial cancer. N. Engl. J. Med., 1985, 313, 593–596.

    Kaufman D. W. , 'Cigarette smoking and the risk of endometrial cancer ' (1985 ) 313 N. Engl. J. Med. : 593 -596.

    • Search Google Scholar
  • Rossing, M. A., Cushing, K. L., Voigt, L. F. és mtsai: Risk of papillary thyroid cancer in women in relationship to smoking and alcohol consumption. Epidemiology, 2000, 11, 49–54.

    Voigt L. F. , 'Risk of papillary thyroid cancer in women in relationship to smoking and alcohol consumption ' (2000 ) 11 Epidemiology : 49 -54.

    • Search Google Scholar
  • Colditz, G. A., Stampfer, M. J., Willett, W. C. és mtsai: Prospective study of estrogene replacement therapy and risk of breast cancer in postmenopausal women. J. Am. Med. Assoc., 1990, 264, 2648–2653.

    Willett W. C. , 'Prospective study of estrogene replacement therapy and risk of breast cancer in postmenopausal women ' (1990 ) 264 J. Am. Med. Assoc. : 2648 -2653.

    • Search Google Scholar
  • Schurmann, A. G., van den Brandt, P. A., Goldbohm, R. A. és mtsai: Exogenous hormone use and the risk of postmenopausal breast cancer: results from the Netherlands Cohort Study. Cancer Causes Control., 1995, 6, 416–424.

    Goldbohm R. A. , 'Exogenous hormone use and the risk of postmenopausal breast cancer: results from the Netherlands Cohort Study ' (1995 ) 6 Cancer Causes Control. : 416 -424.

    • Search Google Scholar
  • Fan, S., Wang, J., Yuan, R. és mtsai: BRCA1 inhibition of estrogen receptor signaling in transfected cells. Science, 1999, 284, 1354–1356.

    Yuan R. , 'BRCA1 inhibition of estrogen receptor signaling in transfected cells ' (1999 ) 284 Science : 1354 -1356.

    • Search Google Scholar
  • Hilakivi-Clarke, L.: Estrogens, BRCA1 and breast cancer. Cancer Res., 2000, 60, 4993–5001.

    Hilakivi-Clarke L. , 'Estrogens, BRCA1 and breast cancer ' (2000 ) 60 Cancer Res. : 4993 -5001.

    • Search Google Scholar
  • Jordan, V. C.: Tamoxifen: a personal perspective. Lancet Oncol., 2000, 1, 43–49.

    Jordan V. C. , 'Tamoxifen: a personal perspective ' (2000 ) 1 Lancet Oncol. : 43 -49.

  • Cuzick, J.: A brief review of the current breast cancer prevention trials and proposals for future trials. Eur. J. Cancer, 2000, 36, 1298–1302.

    Cuzick J. , 'A brief review of the current breast cancer prevention trials and proposals for future trials ' (2000 ) 36 Eur. J. Cancer : 1298 -1302.

    • Search Google Scholar
  • King, M. C., Wieand, S., Hale, K. és mtsai: 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. J. Am. Med. Assoc., 2001, 286, 2251–2256.

    Hale K. , '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 ' (2001 ) 286 J. Am. Med. Assoc. : 2251 -2256.

    • Search Google Scholar
  • Karp, S. E., Tonin, P. N., Begin, L. R. és mtsai: Influence of BRCA1 mutations on nuclear grade and estrogene receptor status of breast carcinoma in Askhenazi Jewish women. Cancer, 1997, 80, 435–441.

    Begin L. R. , 'Influence of BRCA1 mutations on nuclear grade and estrogene receptor status of breast carcinoma in Askhenazi Jewish women ' (1997 ) 80 Cancer : 435 -441.

    • Search Google Scholar
  • Cauley, J. A., Norton, L., Lippman, M. E. és mtsai: Continued breast cancer risk reduction in postmenopausal women treated with raloxifene: 4 year results from the MORE trial. Breast Cancer Res. Treat., 2001, 65, 125–134.

    Lippman M. E. , 'Continued breast cancer risk reduction in postmenopausal women treated with raloxifene: 4 year results from the MORE trial ' (2001 ) 65 Breast Cancer Res. Treat. : 125 -134.

    • Search Google Scholar
  • Hartmann, L. C., Sellers, T. A., Schaid, D. J. és mtsai: Clinical options for women at high risk for breast cancer. Surg. Clin. North Am., 1999, 79, 1189–1206.

    Schaid D. J. , 'Clinical options for women at high risk for breast cancer ' (1999 ) 79 Surg. Clin. North Am. : 1189 -1206.

    • Search Google Scholar
  • Eisen, A., Rebbeck, T. R., Wood, W. C. és mtsai: Prophylactic surgery in women with a hereditary predisposition to breast and ovarian cancer. J. Clin. Oncol., 2000, 18, 1980–1995.

    Wood W. C. , 'Prophylactic surgery in women with a hereditary predisposition to breast and ovarian cancer ' (2000 ) 18 J. Clin. Oncol. : 1980 -1995.

    • Search Google Scholar
  • Hirayama, T., Wynder, E.: Study of epidemiology of cancer of the breast: influence of hysterectomy. Cancer, 1962, 15, 28–38.

    Wynder E. , 'Study of epidemiology of cancer of the breast: influence of hysterectomy ' (1962 ) 15 Cancer : 28 -38.

    • Search Google Scholar
  • Parazzini, F., Braga, C., la Vecchia, C. és mtsai: Hysterectomy, oophorectomy in premenopause and risk of breast cancer. Obstet. Gynecol., 1997, 90, 453–456.

    Vecchia C. , 'Hysterectomy, oophorectomy in premenopause and risk of breast cancer ' (1997 ) 90 Obstet. Gynecol. : 453 -456.

    • Search Google Scholar
  • Narod, S. A., Sun, P., Ghadirian, P. és mtsai: Tubal ligation and the risk of ovarian cancer in carriers of BRCA1 and BRCA2 mutations. Lancet, 2001, 357, 1467–1470.

    Ghadirian P. , 'Tubal ligation and the risk of ovarian cancer in carriers of BRCA1 and BRCA2 mutations ' (2001 ) 357 Lancet : 1467 -1470.

    • Search Google Scholar
  • Wagner, T. M., Moslinger, R., Langbauer, G. és mtsai: Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Austrian Hereditary Breast and Ovarian Cancer Group. Br. J. Cancer, 2000, 82, 1249–1253.

    Langbauer G. , 'Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Austrian Hereditary Breast and Ovarian Cancer Group ' (2000 ) 82 Br. J. Cancer : 1249 -1253.

    • Search Google Scholar
  • Whittemore, A. S., Harris, R., Itnyre, J.: Characteristics relating to ovarian cancer risk: colaborative analysis of 12 US case-control studies. II. Invasive epithelial ovarian cancers in white women Collaborative Ovarian Cancer Group. Am. J. Epidemiol., 1992, 136, 1184–1203.

    Itnyre J. , 'Characteristics relating to ovarian cancer risk: colaborative analysis of 12 US case-control studies. II. Invasive epithelial ovarian cancers in white women Collaborative Ovarian Cancer Group ' (1992 ) 136 Am. J. Epidemiol. : 1184 -1203.

    • Search Google Scholar
  • Collaborative Group on Hormonal Factors in Breast Cancer: Breast cancer and hormonal contraceptives: further results. Contraception, 1996, 54 (Suppl.), S1–S106.

    'Breast cancer and hormonal contraceptives: further results ' (1996 ) 54 Contraception : S1 -S106.

    • Search Google Scholar
  • Weber, B. L., Punzalan, C., Eisen, A. és mtsai: Ovarian risk cancer reduction after bilateral prophylactic oophorectomy (BPO) in BRCA1 and BRCA2 mutation carriers. Am. J. Hum. Genet., 2000, 67 (Suppl. 2), S59.

    Eisen A. , 'Ovarian risk cancer reduction after bilateral prophylactic oophorectomy (BPO) in BRCA1 and BRCA2 mutation carriers ' (2000 ) 67 Am. J. Hum. Genet. : S59 -.

    • Search Google Scholar
  • Hankinson, S. E., Hunter, D. J., Colditz, G. A. és mtsai: Tubal ligation, hysterectomy and risk of ovarian cancer. A prospective study. J. Am. Med. Assoc., 1993, 270, 2813–2818.

    Colditz G. A. , 'Tubal ligation, hysterectomy and risk of ovarian cancer. A prospective study ' (1993 ) 270 J. Am. Med. Assoc. : 2813 -2818.

    • Search Google Scholar
  • Boyd, N. F., Guo, H., Martin, L. J. és mtsai: Mammographic density and the risk and detection of breast cancer. N. Engl. J. Med., 2007, 356, 227–236.

    Martin L. J. , 'Mammographic density and the risk and detection of breast cancer ' (2007 ) 356 N. Engl. J. Med. : 227 -236.

    • Search Google Scholar
  • Houssami, N., Ciatto, S.: Mammographic surveillance in women with a personal history of breast cancer: how accurate? How effective? Breast, 2010, 19, 439–445.

    Ciatto S. , 'Mammographic surveillance in women with a personal history of breast cancer: how accurate? How effective? ' (2010 ) 19 Breast : 439 -445.

    • Search Google Scholar
  • Byrne, C., Schairer, C., Wolfe, J. és mtsai: Mammographic features and breast cancer risk: effects with time, age and menopause status. J. Natl. Cancer Inst., 1995, 87, 1622–1629.

    Wolfe J. , 'Mammographic features and breast cancer risk: effects with time, age and menopause status ' (1995 ) 87 J. Natl. Cancer Inst. : 1622 -1629.

    • Search Google Scholar
  • Wilkinson, E., Clopton, C., Gordonson, J. és mtsai: Mammographic parenchymal pattern and the risk of breast cancer. J. Natl. Cancer Inst., 1977, 59, 1397–1400.

    Gordonson J. , 'Mammographic parenchymal pattern and the risk of breast cancer ' (1977 ) 59 J. Natl. Cancer Inst. : 1397 -1400.

    • Search Google Scholar
  • Ziv, E., Shepherd, J., Smith-Bindman, R. és mtsai: Mammographic breast densitiy and family history of breast cancer. J. Natl. Cancer Inst., 2003, 95, 556–558.

    Smith-Bindman R. , 'Mammographic breast densitiy and family history of breast cancer ' (2003 ) 95 J. Natl. Cancer Inst. : 556 -558.

    • Search Google Scholar
  • Crest, A. B., Aiello, E. J., Anderson, M. L. és mtsai: Varying levels of family history of breast cancer in relation to mammographic breast density. Cancer Causes Control, 2006, 17, 843–850.

    Anderson M. L. , 'Varying levels of family history of breast cancer in relation to mammographic breast density ' (2006 ) 17 Cancer Causes Control : 843 -850.

    • Search Google Scholar
  • Gravelle, I. H., Bulstrode, J. C., Wang, D. Y. és mtsai: The relation between radiographic features and determinants of risk of breast cancer. Br. J. Radiol., 1980, 53, 107–113.

    Wang D. Y. , 'The relation between radiographic features and determinants of risk of breast cancer ' (1980 ) 53 Br. J. Radiol. : 107 -113.

    • Search Google Scholar
  • Breuer, B., Miller, D. G., Salane, M. és mtsai: Mammographic parenchymal patterns and family history of breast cancer. Cancer, 1992, 69, 602–603.

    Salane M. , 'Mammographic parenchymal patterns and family history of breast cancer ' (1992 ) 69 Cancer : 602 -603.

    • Search Google Scholar
  • Gierach, G. L., Loud, J. T., Chow, C. K. és mtsai: Mammographic density does not differ between unaffected BRCA1/2 mutation carriers and women at low-to-average risk of breast cancer. Breast Cancer Res. Treat., 2010, 123, 245–255.

    Chow C. K. , 'Mammographic density does not differ between unaffected BRCA1/2 mutation carriers and women at low-to-average risk of breast cancer ' (2010 ) 123 Breast Cancer Res. Treat. : 245 -255.

    • Search Google Scholar
  • Kriege, M., Brekelmans, C. T., Boetes, C. és mtsai: 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.

    Boetes C. , 'Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition ' (2004 ) 351 N. Engl. J. Med. : 427 -437.

    • Search Google Scholar
  • Leach, M. O., Boggis, C. R., Dixon, A. K. és mtsai: Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer. A prospective multicenter cohort study (MARIBS). Lancet, 2005, 365, 1769–1778.

    Dixon A. K. , 'Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer. A prospective multicenter cohort study (MARIBS) ' (2005 ) 365 Lancet : 1769 -1778.

    • Search Google Scholar
  • Lehman, C. D.: Role of MRI in screening women at high risk for breast cancer. J. Magn. Reson. Imaging, 2006, 24, 964–970.

    Lehman C. D. , 'Role of MRI in screening women at high risk for breast cancer ' (2006 ) 24 J. Magn. Reson. Imaging : 964 -970.

    • Search Google Scholar
  • Kuhl, C. K., Schrading, S., Leutner, C. C. és mtsai: Mammography, breast ultrasound and magnetic resonance imaging for surveillance of women at high familial risk of breast cancer. J. Clin. Oncol., 2005, 23, 8469–8476.

    Leutner C. C. , 'Mammography, breast ultrasound and magnetic resonance imaging for surveillance of women at high familial risk of breast cancer ' (2005 ) 23 J. Clin. Oncol. : 8469 -8476.

    • Search Google Scholar
  • Granader, E. J., Dwamena, B., Carlos, R. C.: MRI and mammography surveillance of women at increased risk for breast cancer: recommendations using an evidence-based approach. Acad. Radiol., 2008, 15, 1590–1595.

    Carlos R. C. , 'MRI and mammography surveillance of women at increased risk for breast cancer: recommendations using an evidence-based approach ' (2008 ) 15 Acad. Radiol. : 1590 -1595.

    • Search Google Scholar
  • Yu, J., Park, A., Morris, E. és mtsai: MRI screening in a clinic population with a family history of breast cancer. Ann. Surg. Oncol., 2008, 15, 452–461.

    Morris E. , 'MRI screening in a clinic population with a family history of breast cancer ' (2008 ) 15 Ann. Surg. Oncol. : 452 -461.

    • Search Google Scholar
  • Connor, F., Bertwistle, D., Mee, P. J. és mtsai: Tumorigenesis and a DNA repair defect in mice with a truncating BRCA2 mutation. Nat. Genet., 1997, 17, 423–430.

    Mee P. J. , 'Tumorigenesis and a DNA repair defect in mice with a truncating BRCA2 mutation ' (1997 ) 17 Nat. Genet. : 423 -430.

    • Search Google Scholar
  • Gowen, L. C., Avrutskaya, A. V., Latour, A M. és mtsai: BRCA1 required for transcription-coupled repair of oxidative DNA damage. Science, 1998, 281, 1009–1012.

    Latour A M. , 'BRCA1 required for transcription-coupled repair of oxidative DNA damage ' (1998 ) 281 Science : 1009 -1012.

    • Search Google Scholar
  • Khanna, K. K., Jackson, S. P.: DNA double-strand breaks: signaling, repair and the cancer connection. Nat. Genet., 2001, 27, 247–254.

    Jackson S. P. , 'DNA double-strand breaks: signaling, repair and the cancer connection ' (2001 ) 27 Nat. Genet. : 247 -254.

    • Search Google Scholar
  • Ren, Q., Potoczek, M. B., Krajewski, S. és mtsai: Transcriptional regulation of the Bcl-2 gene by wild type BRCA1 is important in regulating response to DNA damage-included apoptosis. Proc. Am. Assoc. Cancer Res., 2001, 42, 2991 (abstract).

    Krajewski S. , 'Transcriptional regulation of the Bcl-2 gene by wild type BRCA1 is important in regulating response to DNA damage-included apoptosis ' (2001 ) 42 Proc. Am. Assoc. Cancer Res. : 2991 -.

    • Search Google Scholar
  • Domchek, S. M., Weber, B. L.: Clinical management of BRCA1 and BRCA2 mutation carriers. Oncogene, 2006, 25, 5825–5831.

    Weber B. L. , 'Clinical management of BRCA1 and BRCA2 mutation carriers ' (2006 ) 25 Oncogene : 5825 -5831.

    • Search Google Scholar
  • Chappuis, P. O., Foulkes, W. D.: Management of BRCA1/2 mutation carriers. In: Familial breast cancer and ovarian cancer. Eds: Morrison, P. J., Hodgson, S. V., Haites, N. E. Cambridge University Press, UK, 2002, 237–274.

    Foulkes W. D. , '', in Familial breast cancer and ovarian cancer , (2002 ) -.

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