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Instituto Nacional de Salud Pública

2011, Número 5

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salud publica mex 2011; 53 (5)


Predisposición genética para el cáncer de mama: genes BRCA1 y BRCA2

Narod SA, Rodríguez AA

Idioma: Español
Referencias bibliográficas: 48
Paginas: 420-429
Archivo PDF: 129.31 Kb.


RESUMEN

El descubrimiento de los genes BRCA1 y BRCA2 ha llevado a la introducción de pruebas genéticas cada vez más sofisticadas para medir el riesgo de cáncer de mama de origen hereditario, entre otras cosas. En el presente artículo exploramos los criterios a seguir para realizar pruebas para estos genes, así como las implicaciones en el tratamiento para los pacientes en caso de identificarlos.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Narod S, Foulkes W. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004; 4:665-676.

  2. Volgestein B, Kinzler KW. The genetic basis of human cancer.2nd edition. McGraw Hill Co, 2002.

  3. The Breast Cancer Linkage Consortium. Pathology of familial breast cancer: Differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet 1997;349: 1505-1510

  4. Antoniou A, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, Loman N, 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. Am J Hum Genet 2003; 72:1117-1130.

  5. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994; 343:692-695.

  6. Hall MJ, Reid JE, Burbidge LA, Pruss D, Deffenbaugh AM, Frye C, et al. Women of Different Ethnicities Undergoing Testing for Hereditary Breast- Ovarian Cancer. Cancer 2009;115(10):2222-2233.

  7. Lynch H, Lynch J. Genética, Historia Natural y Consejo Genético basado en el ADN del Cáncer de Mama Hereditario. En: Winchester DJ, Winchester DP, American Cancer Society. Cáncer de mama. Atlas de Oncología Clínica. Ediciones Harcourt, 2001: 1-18.

  8. Narod S, Offit K. Prevention and Management of Hereditary Breast Cancer. J Clin Oncol 2005; 23(8):1656-1663.

  9. Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst 2006; 98:1694-1706.

  10. Cazap E, Buzaid AC, Garbino C, de la Garza J, Orlandi FJ, Schwartsmann G, et al. Latin American and Caribbean Society of Medical Oncology. Breast cancer in Latin America: results of the Latin American and Caribbean Society of Medical Oncology/Breast Cancer Research Foundation expert survey. Cancer 2008 ;113(8 Suppl):2359-2365.

  11. Metcalfe KA, Birenbaum-Carmeli D, Lubinski J, Gronwald J, Lynch H, Moller P. International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer 2008; 122:2017-2022.

  12. Wooster R, Bignell G, Lancaster J. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995; 378: 789-792

  13. John EM, Miron A, Gong G, Phipps AI, Felberg A, Li FP, et al. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial groups. JAMA 2007; 298:2869-2876.

  14. Malone K, Daling J, Doody D, Hsu L, Bernstein L, Coates R, et al. Prevalence and Predictors of BRCA1 and BRCA2 Mutations in a Population-Based Study of Breast Cancer in White and Black American Women Ages 35 to 64 Years. Cancer Res 2006; 66(16): 8297-8308.

  15. Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, et al. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999;91:1241-1247.

  16. Foulkes WD, Metcalfe K, Sun P, Hanna WM, Lynch HT, Ghadirian P, et al. Estrogen receptor status in BRCA1 and BRCA2 related breast cancer: the influence of age, grade, and histological type. Clin Cancer Res 2004:10:2029-2034.

  17. Foulkes WD, Stefansson IM, Chappuis PO, Bégin LR, Goffin JR, Wong N, et al. Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst 2003;95:1482-1485.

  18. Lakhani SR, Reis-Filho JS, Fulford L, Penault-Llorca F, van der Vijver M, Parry S, et al. Breast Cancer Linkage Consortium. Prediction of BRCA1 status in patients with breast cancer using estrogens receptor and basal phenotype. Clin Cancer Res 2005; 11:5175-5180.

  19. Young RS, Pilarski RT, Donenberg T, Shapiro S, Hammond LS, Miller J, et al. The Prevalence of BRCA1 Mutations Among Young Women with Triple-Negative Breast Cancer. BMC Cancer 2009; 9:86.

  20. Dent R, Trudeau M, Pritchard KI, Hanna WM, Kahn HK, Sawka CA, et al. Triple-negative breast cancer: clinical features and patterns of recurrence. Clin Cancer Re 2o07,113:4429-4434.

  21. Petrucelli N, Daly M, Culver J, Levy E. BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer. GeneReviews at Gene Tests: Medical Genetics Information Resource [database online], Seattle: University of Washington, 2005.

  22. Morgan D, Sylvester H, Lucas FL, Miesfeldt S. Cancer prevention and screening practices among women at risk for hereditary breast and ovarian cancer after genetic counselling in the community setting. Familial Cancer 2009; 8:277-287.

  23. Narod SA. Modifiers of risk of hereditary breast cancer. Oncogene 2006;25(43):5832-5836.

  24. Finch A, Beiner M, Lubinski J, Lynch HT, Moller P, Rosen B. Salpingooophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA 2006; 296:185-192.

  25. Panchal S, Ennis M, Canon S. Bordeleau L. Selecting a BRCA risk assessment model for use in a familial cancer clinic. BMC Medical Genet 2008; 9:116.

  26. Vogel KJ, Atchley DP, Erlichman J, Broglio KR, Ready KJ, Valero V, et al. BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model. J Clin Oncol 2007;25:4635-4641.

  27. Vidal-Millán S. Cáncer de Mama Hereditario: Identificación y Elección de Pacientes para Estudio Molecular de los Genes BRCA. Cancerología 2008;3:51-61.

  28. The Am College of Obstet & Gynecol. Clinical Management guidelines for Obstetrician-Gynecologists 2009;113:4:957-966

  29. McLaughlin JR, Risch HA, Lubinski J, Moller P, Ghadirian P, Lynch H. Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet Oncol 2007;8:26-34.

  30. Metcalfe KA, Lynch HT, Ghadirian P. The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers. Gynecol Oncol 2005; 96:222-226.

  31. Metcalfe KA, Finch A, Poll A, Horsman D, Kim-Sing C, Scott J, et al. Breast Cancer Risks in Women with a Family History of Breast or Ovarian Cancer who have Tested Negative for a BRCA1 or BRCA2. Mutation Br J Cancer 2008.

  32. Eisen A, Rebbeck T, Wood W, Weberet B. Prophylactic Surgery in Women With a Hereditary Predisposition to Breast and Ovarian Cancer. J Clin Oncol 2000;18 (9): 1980.

  33. Metcalfe KA, Lubinski J, Ghadirian P. Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group. J Clin Oncol 2008; 26:1093-1097.

  34. Gronwald J, Tung N, Foulkes WD, Offit K, Gershoni R, Daly M. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer 2006;118:2281-2284.

  35. Gulati AP, Domchek SM. The Clinical Management of BRCA1 and BRCA2 Mutation Carriers. Curr Oncol Rep 2008;10(1):47-53.

  36. Eisen A, Lubinski J, Klijn J, Moller P, Lynch HT, Offit K. Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol 2005;23:7491-7496.

  37. Eisen A, Lubinski J, Gronwald J, Moller P, Lynch HT, Klijn J. Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers. J Natl Cancer Inst 2008;100:1361-1367.

  38. Nelson H, Huffman L, Fu R, Harris E. Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Systematic Evidence Review for the U.S. Preventive Services Task Force. Ann Intern Med 2005; 143:362-379.

  39. Warner E, Plewes DB, Hill KA, Causer PA, Zubovits JT, Jong RA. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 2004;292:1317-1325.

  40. Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E, et al. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2004;15:2328-2335.

  41. Garber JE, Mehra G. Contralateral Breast Cancer in BRCA1/BRCA2 Mutation Carriers: The Story of the Other Side. J Clin Oncol 2009;25.1652.

  42. Jernström H, Lubinski J, Lynch HT, Ghadirian P, Neuhausen S, Isaacs. Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2004; 96:1094-1098.

  43. Byrski T, Huzarski T, Dent R, Gronwald J, Zuziak D, Cybulski C, et al. Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat 2008; 23. (epub ahead of print.)

  44. Byrski T, Gronwald J, Huzarski T, Grzybowska E, Budryk M, Stawicka M, et al. Polish Hereditary Breast Cancer Consortium. Response to neoadjuvant chemotherapy in women with BRCA1-positive breast cancers. Breast Cancer Res Treat 2008;108:289-296.

  45. Weitzel JN, Lagos V, Blazer KR, Nelson R, Ricker C, Herzog J, et al. Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epi Biomarkers Prev 2005;14:1666-1671.

  46. Weitzel JN, Lagos VI, Herzog JS, Judkins T, Hendrickson B, Ho JS, et al. Evidence for a common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families. Cancer Epi Biomarkers Prev 2007;16:1615-1620.

  47. Gorski T, Byrski T, Huzarski TJ, Jakubowska A, Menkiszak J, Gronwald, et al. Founder mutations in the BRCA1 gene in Polish families with breastovarian cancer. Am J Hum Genet 2000;66:1963-1968.

  48. Moller P, Borg A, Evans DG, Haites N, Reis MM, Vasen H, et al. Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumor characteristics, BRCA mutations and oophorectomy. Int J Cancer 2002;101(6):555-559.




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