就在國(guó)際癌癥基因組協(xié)會(huì)29日在英國(guó)成立的前兩天,，冰島的科學(xué)家們表示,，他們已經(jīng)發(fā)現(xiàn)了與乳腺癌相關(guān)的第4組變異基因。這些基因變異可以增加女性患上雌激素受體陽(yáng)性乳腺癌的風(fēng)險(xiǎn),。據(jù)稱這項(xiàng)最新的研究可以幫助人們利用DNA檢測(cè),，在早期確定患上乳腺癌的女性。
根據(jù)科學(xué)家們透露的消息,，他們?cè)谌祟?lèi)基因的第五號(hào)染色體上發(fā)現(xiàn)了兩個(gè)成對(duì)出現(xiàn)的變異基因,，經(jīng)研究?jī)蓚€(gè)基因都與雌激素受體陽(yáng)性乳腺癌的發(fā)生相關(guān)?？茖W(xué)家聲稱大約60%的一般人群都會(huì)攜帶這對(duì)基因中的一個(gè)基因,，即編號(hào)為RS4415084變異基因。而從父母雙方遺傳這種基因的女性,，患乳腺癌的風(fēng)險(xiǎn)比其他沒(méi)有遺傳此類(lèi)基因的女性大50%,。
生物谷推薦原始出處：
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 Aben2,3, 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 Kiemeney2,3, 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 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.
