El cáncer hereditario en mujeres

  1. Rafael Morales Chamorro 1
  2. Isabel Chirivella González 2
  3. Gemma Llort Pursals 3
  4. Ana Beatriz Sánchez Heras 4
  5. Raquel Serrano Blanch 5
  6. Alexandre Teule Vega 6
  7. Carmen Guillén Ponce 7
  8. Begoña Graña Suárez 8
  1. 1 Hospital de Alcázar de San Juan, España
  2. 2 Hospital Clínico Universitario de Valencia, España
  3. 3 Corporació Sanitaria Parc Taulí, España
  4. 4 Hospital General Universitario de Elche, España
  5. 5 Hospital Reina Sofía, Córdoba, España
  6. 6 Hospital Duran i Reynals, España
  7. 7 Hospital Universitario Ramón y Cajal, España
  8. 8 Complexo Hospitalario Universitario A Coruña, España
Revista:
Arbor: Ciencia, pensamiento y cultura

ISSN: 0210-1963

Año de publicación: 2015

Título del ejemplar: Mujer y cancer

Número: 773

Tipo: Artículo

DOI: 10.3989/ARBOR.2015.773N3008 DIALNET GOOGLE SCHOLAR lock_openAcceso abierto editor

Otras publicaciones en: Arbor: Ciencia, pensamiento y cultura

Objetivos de desarrollo sostenible

Resumen

La mayoría de los casos de cáncer son esporádicos, entre un 20-30% presentan agregación familiar, mientras que solo el 5 -10% son de carácter hereditario. Las familias e individuos en los que se sospecha que padecen cáncer hereditario deben someterse a un proceso de asesoramiento genético, que es de gran importancia para la prevención y detección temprana de tumores malignos. Los síndromes más frecuentes de cáncer hereditario son el síndrome de mama-ovario hereditario, la poliposis adenomatosa familiar y el síndrome de Lynch. El diagnóstico genético facilita realizar una estimación de los riesgos de desarrollar diferentes cánceres, permitiendo tomar decisiones de vigilancia y preventivas que reducen estos riesgos. El objetivo final es reducir la mortalidad por cáncer mediante el diagnóstico precoz y la prevención.

Referencias bibliográficas

  • Barzi, A., Lenz, A. M., Labonte, M. J. y Lenz, H. J. (2013). Molecular pathways: Estrogen pathway in colorectal cancer. Clinical Cancer Research, 19, 21, pp. 5842-5848. http://dx.doi.org/10.1158/1078-0432.CCR-13-0325 PMid:23965904 PMCid:PMC3836673
  • Brosens, L. A., van Hattem, A., Hylind, L. M., Iacobuzio-Donahue, C., Romans, K. E., Axilbund, J. et al. (2007). Risk of colorectal cancer in juvenile polyposis. Gut, 56, 7, pp. 965-967. http://dx.doi.org/10.1136/gut.2006.116913 PMid:17303595 PMCid:PMC1994351
  • Burn, J., Gerdes, A. M., Macrae, F., Mecklin, J. P., Moeslein, G., Olschwang, S. et al. (2011). Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet, 378, 9809, pp. 2081-2087. http://dx.doi.org/10.1016/S0140-6736(11)61049-0
  • Chen, S. y Parmigiani, G. (2007). Meta-Analysis of BRCA1 and BRCA2 Penetrance. Journal of Clinical Oncology, 25, 11, pp. 1329-1333. http://dx.doi.org/10.1200/JCO.2006.09.1066 PMid:17416853 PMCid:PMC2267287
  • Ferlay, J., Soerjomataram, I., Ervik, M., Dikshit, R., Eser, S., Mathers, C. et al. (2013). GLOBOCAN 2012 v1.0, Cancer Incidence and Mortality Workwide: IARC CancerBase nº 11 [en línea]. [Disponible en http://globocan.iarc.fr].
  • Fostira, F., Tsitlaidou, M., Papadimitriou, C., Pertesi, M., Timotheadou, E., Stavropoulou, A. V. et al. (2012). Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study. Breast Cancer Research and Treatment, 134, 1, pp. 353-362. http://dx.doi.org/10.1007/s10549-012-2021-9 PMid:22434525
  • Giardiello, F. M., Allen, J. I., Axilbund, J. E., Boland, C. R., Burke, C. A., Burt, R. W. et al. (2014). Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. American Journal of Gastroenterology, 109, 8, pp. 1159-1179. http://dx.doi.org/10.1038/ajg.2014.186 PMid:25070057
  • Giardiello, F. M., Brensinger, J. D., Tersmette, A. C., Goodman, S. N., Petersen, G. M., Booker, S. V. et al. (2000). Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology, 119, 6, pp. 1447-1453. http://dx.doi.org/10.1053/gast.2000.20228
  • Gra-a, B., Lastra, E., Llort, G., Brunet, J. e Isla, D. (2011). SEOM clinical guidelines for hereditary cancer. Clinical and Translational Oncology, 13, 8, pp. 580-586. http://dx.doi.org/10.1007/s12094-011-0701-2 PMid:21821494
  • Gronwald, J., Tung, N., Foulkes, W. D., Offit, K., Gershoni, R., Daly, M. et al. (2006). Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. International Journal of Cancer, 118, 9, pp. 2281-2284. http://dx.doi.org/10.1002/ijc.21536 PMid:16331614
  • Hampel, H., Sweet, K., Westman, J. A., Offit, K. y Eng, C. (2004). Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. Journal of Medical Genetics, 41, 2, pp. 81-91. http://dx.doi.org/10.1136/jmg.2003.010918 PMCid:PMC1735676
  • Hartmann, L. C., Sellers, T. A., Schaid, D. J., Frank, T. S., Soderberg, C. L., Sitta, D. L. et al. (2001). Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. Journal of the National Cancer Institute, 93, 21, pp. 1633-1637. http://dx.doi.org/10.1093/jnci/93.21.1633
  • Heald, B., Mester, J., Rybicki, L., Orloff, M. S., Burke, C. A. y Eng, C. (2010). Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology, 139, 6, pp. 1927-1933. http://dx.doi.org/10.1053/j.gastro.2010.06.061 PMid:20600018 PMCid:PMC3652614
  • Kauff, N. D., Domchek, S. M., Friebel, T. M., Robson, M. E., Lee, J., Garber, J. E. et al. (2008). Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. Journal of Clinical Oncology, 26, 8, pp. 1331-1337. http://dx.doi.org/10.1200/JCO.2007.13.9626 PMid:18268356 PMCid:PMC3306809
  • Koornstra, J. J., Mourits, M. J., Sijmons, R. H., Leliveld, A. M., Hollema, H. y Kleibeuker, J. H. (2009). Management of extracolonic tumours in patients with Lynch syndrome. Lancet Oncology, 10, 4, pp. 400-408. http://dx.doi.org/10.1016/S1470-2045(09)70041-5
  • Kriege, M., Brekelmans, C. T., Boetes, C., Besnard, P. E., Zonderland, H. M., Obdeijn, I. M. et al. (2004). Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. New England Journal of Medicine, 351, 5, pp. 427-437. http://dx.doi.org/10.1056/NEJMoa031759 PMid:15282350
  • Lastra-Aras, E., Robles-Diaz, L., Guillen-Ponce, C., Alba, E. y Cruz, J. J. (2013). SEOM recommendations on the structure and operation of hereditary cancer genetic counseling units (HCGCUs). Clinical and Translational Oncology, 15, 1, pp. 20-25. http://dx.doi.org/10.1007/s12094-012-0920-1 PMid:22911548
  • Leach, M. O., Boggis, C. R., Dixon, A. K., Easton, D. F., Eeles, R. A., Evans, D. G. et al. (2005). Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet, 365, 9473, pp. 1769-1778.
  • Lynch, H. T., Lynch, P. M., Lanspa, S. J., Snyder, C. L., Lynch, J. F. y Boland, C. R. (2009). Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clinical Genetics, 76, 1, pp. 1-18. http://dx.doi.org/10.1111/j.1399-0004.2009.01230.x PMid:19659756 PMCid:PMC2846640
  • Metcalfe, K., Gershman, S., Ghadirian, P., Lynch, H. T., Snyder, C., Tung, N. et al. (2014a). Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis. British Medical Journal, 348, pp. g226.
  • Metcalfe, K., Lynch, H. T., Snyder, C. L., Foulkes, W., Tung, N. M., Kim-Sing, C. et al. (2014b). The impact of oophorectomy on survival after breast cancer in BRCA1 and BRCA2 mutation carriers. ASCO Meeting Abstracts, 32, 15_suppl, pp. 1507.
  • Narod, S. A., Brunet, J. S., Ghadirian, P., Robson, M., Heimdal, K., Neuhausen, S. L. et al. (2000). Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet, 356, 9245, pp. 1876-1881. http://dx.doi.org/10.1016/s0140-6736(00)03258-x
  • Nielsen, M., Hes, F. J., Nagengast, F. M., Weiss, M. M., Mathus-Vliegen, E. M., Morreau, H. et al. (2007). Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clinical Genetics, 71, 5, pp. 427-433. http://dx.doi.org/10.1111/j.1399-0004.2007.00766.x PMid:17489848
  • Rebbeck, T. R., Kauff, N. D. y Domchek, S. M. (2009). Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. Journal of the National Cancer Institute, 101, 2, pp. 80-87. http://dx.doi.org/10.1093/jnci/djn442 PMid:19141781 PMCid:PMC2639318
  • Rustgi, A. K. (2007). The genetics of hereditary colon cancer. Genes and Development, 21, 20, pp. 2525-2538. http://dx.doi.org/10.1101/gad.1593107 PMid:17938238
  • Schmeler, K. M., Lynch, H. T., Chen, L. M., Munsell, M. F., Soliman, P. T., Clark, M. B. et al. (2006). Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. New England Journal of Medicine, 354, 3, pp. 261-269. http://dx.doi.org/10.1056/NEJMoa052627 PMid:16421367
  • Snowsill, T., Huxley, N., Hoyle, M., Jones-Hughes, T., Coelho, H., Cooper, C. et al. (2014). A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome. Health Technology Assessment, 18, 58, pp. 1-406. http://dx.doi.org/10.3310/hta18580 PMid:25244061
  • Vasen, H. F., Blanco, I., Aktan-Collan, K., Gopie, J. P., Alonso, A., Aretz, S. et al. (2013). Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut, 62, 6, pp. 812-823. http://dx.doi.org/10.1136/gutjnl-2012-304356 PMid:23408351 PMCid:PMC3647358
  • Vasen, H. F., Moslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L. et al. (2008). Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut, 57, 5, pp. 704-713. http://dx.doi.org/10.1136/gut.2007.136127 PMid:18194984
  • Warner, E., Plewes, D. B., Hill, K. A., Causer, P. A., Zubovits, J. T., Jong, R. A. et al. (2004). Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. Journal of the American Association, 292, 11, pp. 1317-1325. http://dx.doi.org/10.1001/jama.292.11.1317