2008-5-2 11:58:19

Nature Genetics ：可诱发乳腺癌的变异基因

就在国际癌症基因组协会29日在英国成立的前两天，冰岛的科学家们表示，他们已经发现了与乳腺癌相关的第4组变异基因。这些基因变异可以增加女性患上雌激素受体阳性乳腺癌的风险。据称这项最新的研究可以帮助人们利用DNA检测，在早期确定患上乳腺癌的女性。

根据科学家们透露的消息，他们在人类基因的第五号染色体上发现了两个成对出现的变异基因，经研究两个基因都与雌激素受体阳性乳腺癌的发生相关。科学家声称大约60%的一般人群都会携带这对基因中的一个基因，即编号为RS4415084变异基因。而从父母双方遗传这种基因的女性，患乳腺癌的风险比其他没有遗传此类基因的女性大50%。

生物谷推荐原始出处：

Nature Genetics (27 Apr 2008), doi: 10.1038/ng.131, Brief Communications

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer

Simon N Stacey¹, Andrei Manolescu¹, Patrick Sulem¹, Steinunn Thorlacius¹, Sigurjon A Gudjonsson¹, Gudbjörn F Jonsson¹, Margret Jakobsdottir¹, Jon T Bergthorsson¹, Julius Gudmundsson¹, Katja K Aben^2,³, Luc J Strobbe⁴, Dorine W Swinkels³, K C Anton van Engelenburg⁵, Brian E Henderson⁶, Laurence N Kolonel⁷, Loic Le Marchand⁷, Esther Millastre⁸, Raquel Andres⁸, Berta Saez⁹, Julio Lambea⁸, Javier Godino⁹, Eduardo Polo¹⁰, Alejandro Tres⁸, Simone Picelli¹¹, Johanna Rantala¹¹, Sara Margolin¹², Thorvaldur Jonsson¹³, Helgi Sigurdsson¹³, Thora Jonsdottir¹³, Jon Hrafnkelsson¹³, Jakob Johannsson¹³, Thorarinn Sveinsson¹³, Gardar Myrdal¹³, Hlynur Niels Grimsson¹³, Steinunn G Sveinsdottir¹⁴, Kristin Alexiusdottir¹⁴, Jona Saemundsdottir¹, Asgeir Sigurdsson¹, Jelena Kostic¹, Larus Gudmundsson¹, Kristleifur Kristjansson¹, Gisli Masson¹, James D Fackenthal¹⁵, Clement Adebamowo¹⁶, Temidayo Ogundiran¹⁶, Olufunmilayo I Olopade¹⁵, Christopher A Haiman⁶, Annika Lindblom¹¹, Jose I Mayordomo⁸, Lambertus A Kiemeney^2,³, Jeffrey R Gulcher¹, Thorunn Rafnar¹, Unnur Thorsteinsdottir¹, Oskar T Johannsson¹³, Augustine Kong¹ & Kari Stefansson¹

We carried out a genome-wide association study of breast cancer predisposition with replication and refinement studies involving 6,145 cases and 33,016 controls and identified two SNPs (rs4415084 and rs10941679) on 5p12 that confer risk, preferentially for estrogen receptor (ER)-positive tumors (OR = 1.27, P = 2.5 times 10^{- 12} for rs10941679). The nearest gene, MRPS30, was previously implicated in apoptosis, ER-positive tumors and favorable prognosis. A recently reported signal in FGFR2 was also found to associate specifically with ER-positive breast cancer.