Irminger-Finger Irmgard, Jefford Charles Edward
Biology of Aging Laboratory, Department of Geriatrics, Geneva University and University Hospitals, 30, Bloulevard de la Cluse, CH-1211 Geneva, Switzerland.
Nat Rev Cancer. 2006 May;6(5):382-91. doi: 10.1038/nrc1878.
It has been over a decade since mutations in BRCA1 and BRCA2 were found to be associated with a small number of familial breast cancer cases. BRCA1 is a large protein that interacts with many other proteins that have diverse functions, so it has been a challenge to determine how defects in its function could lead to cancer. One particular protein, BARD1, seems to be an important regulator of the tumour-suppressor function of BRCA1, as well as acting as a tumour suppressor itself. BARD1 is indispensable for cell viability, so loss-of-function mutations are rare, but mutations and truncations that alter its function might be involved in the pathogenesis of breast cancer.
自发现BRCA1和BRCA2突变与少数家族性乳腺癌病例相关以来,已经过去了十多年。BRCA1是一种大型蛋白质,它与许多具有不同功能的其他蛋白质相互作用,因此确定其功能缺陷如何导致癌症一直是一项挑战。一种特殊的蛋白质BARD1似乎是BRCA1肿瘤抑制功能的重要调节因子,同时它本身也起着肿瘤抑制作用。BARD1对细胞活力不可或缺,因此功能丧失突变很少见,但改变其功能的突变和截短可能与乳腺癌的发病机制有关。