科学家8月6日说，RAD51D基因有缺陷的女性患卵巢癌的几率为1/11。他们说，这是10多年来最重大的卵巢癌基因发现。
英国癌症研究会称，确定哪些人患癌风险最高的检查预计将在几年内出台，这或许会让一些女性决定摘除卵巢以抵御癌症。
这项研究成果还将加快寻找新药的速度。实验显示，RAD51D基因有缺陷的细胞对PARP抑制剂敏感———PARP抑制剂是一种新药，专门对付两种已知致癌基因BRCA1和BRCA2缺陷导致的乳腺癌和卵巢癌。
雅培、默克、辉瑞、赛诺菲-安万特和阿斯特拉-捷利康等几家大型制药公司都在研制PARP抑制剂。它的作用是破坏癌细胞的DNA修复机制，阻断细胞周期，导致癌细胞死亡。
5月公布的数据显示，在对中期卵巢癌患者开展的一项临床试验中，阿斯特拉-捷利康公司生产的olaparib能够延缓癌症的恶化。
在最新的研究中，英国癌症研究所的研究人员把911个有卵巢癌和乳腺癌家族病史的女性的DNA与普通人群中1万多名女性的DNA进行比对。他们发现，患癌女性的RAD51D基因有8个缺陷，而普通女性的RAD51D基因只有一个缺陷。
癌症研究所和皇家马斯登医院的纳兹尼恩·拉赫曼领导了这项研究，并在《自然—遗传学》上发表研究成果。他说：“RAD51D基因有缺陷的女性患卵巢癌的几率为1/11。”
卵巢癌可能潜伏很长时间，常常到晚期才被发现。据估计，全世界每年有23万女性诊断出卵巢癌。多数人是在癌细胞扩散后才诊断出来的，她们当中高达70%的人在5年内死亡。（生物谷Bioon.com）
doi:10.1038/ng.893
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Germline mutations in RAD51D confer susceptibility to ovarian cancer
Chey Loveday; Clare Turnbull; Emma Ramsay; Deborah Hughes; Elise Ruark; Jessica R Frankum; Georgina Bowden; Bolot Kalmyrzaev; Margaret Warren-Perry; Katie Snape; Julian W Adlard; Julian Barwell; Jonathan Berg; Angela F Brady; Carole Brewer; Glen Brice; Cyril Chapman; Jackie Cook; Rosemarie Davidson; Alan Donaldson; Fiona Douglas; Lynn Greenhalgh; Alex Henderson; Louise Izatt; Ajith Kumar; Fiona Lalloo; Zosia Miedzybrodzka; Patrick J Morrison; Joan Paterson; Mary Porteous; Mark T Rogers; Susan Sh
Recently, RAD51C mutations were identified in families with breast and ovarian cancer1. This observation prompted us to investigate the role of RAD51D in cancer susceptibility. We identified eight inactivating RAD51D mutations in unrelated individuals from 911 breast-ovarian cancer families compared with one inactivating mutation identified in 1,060 controls (P = 0.01). The association found here was principally with ovarian cancer, with three mutations identified in the 59 pedigrees with three or more individuals with ovarian cancer (P = 0.0005). The relative risk of ovarian cancer for RAD51D mutation carriers was estimated to be 6.30 (95% CI 2.86–13.85, P = 4.8 × 10?6). By contrast, we estimated the relative risk of breast cancer to be 1.32 (95% CI 0.59–2.96, P = 0.50). These data indicate that RAD51D mutation testing may have clinical utility in individuals with ovarian cancer and their families. Moreover, we show that cells deficient in RAD51D are sensitive to treatment with a PARP inhibitor, suggesting a possible therapeutic approach for cancers arising in RAD51D mutation carriers.
