科學家8月6日說，RAD51D基因有缺陷的女性患卵巢癌的幾率為1/11。他們說，這是10多年來最重大的卵巢癌基因發(fā)現(xiàn),。
英國癌癥研究會稱，確定哪些人患癌風險最高的檢查預計將在幾年內(nèi)出臺,，這或許會讓一些女性決定摘除卵巢以抵御癌癥,。
這項研究成果還將加快尋找新藥的速度。實驗顯示,，RAD51D基因有缺陷的細胞對PARP抑制劑敏感———PARP抑制劑是一種新藥，專門對付兩種已知致癌基因BRCA1和BRCA2缺陷導致的乳腺癌和卵巢癌,。
雅培,、默克、輝瑞,、賽諾菲-安萬特和阿斯特拉-捷利康等幾家大型制藥公司都在研制PARP抑制劑,。它的作用是破壞癌細胞的DNA修復機制，阻斷細胞周期,，導致癌細胞死亡,。
5月公布的數(shù)據(jù)顯示，在對中期卵巢癌患者開展的一項臨床試驗中,，阿斯特拉-捷利康公司生產(chǎn)的olaparib能夠延緩癌癥的惡化,。
在最新的研究中，英國癌癥研究所的研究人員把911個有卵巢癌和乳腺癌家族病史的女性的DNA與普通人群中1萬多名女性的DNA進行比對,。他們發(fā)現(xiàn),，患癌女性的RAD51D基因有8個缺陷，而普通女性的RAD51D基因只有一個缺陷,。
癌癥研究所和皇家馬斯登醫(yī)院的納茲尼恩·拉赫曼領導了這項研究,，并在《自然—遺傳學》上發(fā)表研究成果。他說：“RAD51D基因有缺陷的女性患卵巢癌的幾率為1/11,。”
卵巢癌可能潛伏很長時間,，常常到晚期才被發(fā)現(xiàn),。據(jù)估計，全世界每年有23萬女性診斷出卵巢癌,。多數(shù)人是在癌細胞擴散后才診斷出來的,，她們當中高達70%的人在5年內(nèi)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.
