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BRCA1

Localización do xene BRCA1 no cromosoma 17.

BRCA1 (breast cancer 1, «cancro de mama 1») é un xene supresor de tumores humano, que regula o ciclo celular e evita a proliferación incontrolada. A proteína BRCA1, produto deste xene, forma parte do sistema de detección e reparación dos danos do ADN. O xene BRCA1 atópase no brazo longo (q) do cromosoma 17, na posición 21, dende o par de bases 38.449.843 até o par de bases 38.530.933. Diversas mutacións deste xene están implicadas nalgúns tipos de cancro, especialmente o cancro de mama. Nas mulleres portadoras de mutacións no xene BRCA1, o risco acumulado até os 70 anos estímase entre 51 e 95% para cancro de mama e entre 22 e 66% para cancro de ovario.[1]

Descubrimento

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A primeira evidencia da existencia deste xene obtívose polo laboratorio King da Universidade de California en 1990. [2]Catro anos despois, logo dunha carreira internacional por atopalo, o xene foi clonado pola Universidade de Utah, o ‘National Institute of Environmental Health Sciences’ (NIEHS) e ‘Myriad Genetics’.[3] [4]

  1. Efectividad de los protocolos de prevención en mujeres portadoras de los mutaciones BRCA1/2. Arquivado 30 de agosto de 2012 en Wayback Machine. Biblioteca Cochrane Plus, 2013 Número 3 ISSN 1745-9990
  2. Hall, J.; Lee, M.; Newman, B; Morrow, J.; Anderson, L.; Huey, B & King, M. (1990-12-21). "Linkage of early-onset familial breast cancer to chromosome 17q21". Science (en inglés) 250 (4988): 1684–1689. ISSN 0036-8075. doi:10.1126/science.2270482. 
  3. Arney, Kat (28 de febreiro de 2012). "Tracking down the BRCA genes (Part 1)". CAncer Research UK (en inglés). Arquivado dende o orixinal o 20 de abril de 2019. Consultado o 20 de abril de 2019. 
  4. Miki, Y; Swensen, J; Shattuck-Eidens, D; Futreal, P.; Harshman, K; Tavtigian, S; Liu, Q; Cochran, C; Bennett, L. (1994-10-07). "A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1". Science (en inglés) 266 (5182): 66–71. ISSN 0036-8075. doi:10.1126/science.7545954. 
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BRCA1
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