據(jù)發(fā)表在《美國人類遺傳學(xué)雜志》上的一項研究表明,，科學(xué)家發(fā)現(xiàn)了一種新的乳腺癌遺傳易感性基因。據(jù)研究人員介紹,，XRCC2基因突變會導(dǎo)致乳腺癌,。乳腺癌是女性最常見的惡性腫瘤。到目前為止,，除了BRCA1和BRCA2基因突變和一些罕見的綜合征（如TP53突變,，STK11、PTEN基因、CDH1基因,、NF1基因或NBN）外,，乳腺癌的家族聚集性一直得不到解釋。
目前的研究表明除了BRCA基因和BRCA2基因,，XRCC2基因也存在突變,。猶他州立大學(xué)Huntsman癌癥研究所腫瘤科學(xué)系的研究員和副教授Sean Tavtigian博士表示：這項研究為乳腺癌的治療具有重要意義。
這一發(fā)現(xiàn)是由追蹤研究有乳腺癌病史的家庭得出的,，但研究尚未發(fā)現(xiàn)任何已知的基因參與這種類型的癌癥,。到目前為止，主要用抑癌基因BRCA1和BRCA2基因突變來解釋乳腺癌的家族聚集性,。在正常細胞中,，這些基因有穩(wěn)定遺傳物質(zhì)（DNA）的作用，能防止細胞生長失控,。有癌癥家族史的婦女這些基因突變后有乳腺癌或卵巢癌的風(fēng)險增加,。通過采取血液進行基因測試可以判斷是否這些基因突變了。
使用外顯子組測序技術(shù)研究參與DNA修復(fù)的基因,，研究人員可以研究整個人類基因組的核苷酸編碼蛋白質(zhì)基因的確切順序,。結(jié)果表明乳腺癌中XRCC2基因中有兩個不同的突變。
Tavtigian博士說：新的遺傳易感基因的發(fā)現(xiàn)有可能成為乳腺癌化療新的目標(biāo),。攜帶突變基因XRCC2的患者給予PARP抑制劑后,，藥物可殺死基因突變的癌細胞。（生物谷：Bioon）
doi:10.1016/j.ajhg.2012.02.027
PMC:
PMID:
Rare Mutations in XRCC2 Increase the Risk of Breast Cancer
Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A; the Breast Cancer Family Registry; the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC.
Transcriptional coregulators control the activity of many transcription factors and are thought to have wide-ranging effects on gene expression patterns. We show here that muscle-specific loss of nuclear receptor corepressor 1 (NCoR1) in mice leads to enhanced exercise endurance due to an increase of both muscle mass and of mitochondrial number and activity. The activation of selected transcription factors that control muscle function, such as MEF2, PPARβ/, and ERRs, underpins these phenotypic alterations. NCoR1 levels are decreased in conditions that require fat oxidation, resetting transcriptional programs to boost oxidative metabolism. Knockdown of gei-8, the sole C. elegans NCoR homolog, also robustly increased muscle mitochondria and respiration, suggesting conservation of NCoR1 function. Collectively, our data suggest that NCoR1 plays an adaptive role in muscle physiology and that interference with NCoR1 action could be used to improve muscle function.
