（Nature）乳癌 所有基因 大解盲 : 關鍵 93基因 !!!

乳癌研究里程碑 致癌基因近完全找到 發稿時間：2016/05/03（中央社倫敦3日綜合外電報導）科學家表示，已經找到近乎完整的乳癌基因樣貌。這項發表於「自然」期刊（Nature）的研究，被形容是能協助解開治療及預防乳癌新法的「里程碑」。英國廣播公司（BBC）報導，這項這類最大型研究幾乎找出會造成健康乳房組織變調的所有基因。英國癌症研究協會（Cancer Research UK）表示，此項研究結果是研發治療癌症新藥的重要踏腳石。為了瞭解乳癌的形成原因，科學家必須瞭解DNA出了什麼問題，使健康組織癌化。這個國際團隊研究了560名乳癌患者遺傳密碼中的30億個字母。他們發現93個基因如果突變，就會造成腫瘤生成。部分基因在過去已被發現，科學家認為這會是最後清單，除非另有其他罕見突變。主導這項研究、位於英國劍橋的桑格研究院（Sanger Institute）院長、史卓頓教授（Mike Stratton）表示，這是癌症研究的「里程碑」。1050503

Landscape of somatic mutations in 560 breast cancer whole-genome sequencesNature (2016) doi:10.1038/nature17676 Received 29 June 2015 Accepted 17 March 2016 Published online 02 May 2016We analysed whole-genome sequences of 560 breast cancers to advance understanding of the driver mutations conferring clonal advantage and the mutational processes generating somatic mutations. We found that 93 protein-coding cancer genes carried probable driver mutations. Some non-coding regions exhibited high mutation frequencies, but most have distinctive structural features probably causing elevated mutation rates and do not contain driver mutations. Mutational signature analysis was extended to genome rearrangements and revealed twelve base substitution and six rearrangement signatures. Three rearrangement signatures, characterized by tandem duplications or deletions, appear associated with defective homologous-recombination-based DNA repair: one with deficient BRCA1 function, another with deficient BRCA1 or BRCA2 function, the cause of the third is unknown. This analysis of all classes of somatic mutation across exons, introns and intergenic regions highlights the repertoire of cancer genes and mutational processes operating, and progresses towards a comprehensive account of the somatic genetic basis of breast cancer.