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

Ano de publicación: 2015

Título do exemplar: Mujer y cancer

Número: 773

Tipo: Artigo

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

Outras publicacións en: Arbor: Ciencia, pensamiento y cultura

Objetivos de desarrollo sostenible

Resumo

Most cases of cancer are sporadic, whereas 5-10% are hereditary and about 20-30% of cancers tend to cluster in families. Families and individuals who are suspected of suffering from hereditary cancer need to undergo a process known as genetic counseling, which is of considerable importance in the prevention and early detection of malignant tumours. The most common hereditary cancer syndromes are: hereditary breast-ovarian cancer syndrome, familial adenomatous polyposis and Lynch syndrome. Genetic diagnosis allows clinicians to estimate the risks of developing different cancers in order to make decisions over surveillance and prophylactic surgery to reduce these risks. The ultimate goal is to reduce cancer mortality through early diagnosis and prevention.

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