【佳學基因檢測】模擬癌癥基因檢測中的非隨機缺失：基因解碼的驗證機制

腫瘤基因檢測費用熱點

與同行交流腫瘤檢測的時間與空間對治療效果的影響知道《Semin Cancer Biol》在 2007 Feb;17(1):19-30發(fā)表了一篇題目為《模擬癌癥中的非隨機缺失》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Maria Kost-Alimova, Stefan Imreh等完成。促進了腫瘤的正確治療與個性化用藥的發(fā)展，進一步強調(diào)了基因信息檢測與分析的重要性。

腫瘤靶向藥物及正確治療臨床研究內(nèi)容關鍵詞：

模擬,基因檢測,缺失突變,節(jié)段性損失,基因解碼,驗證

腫瘤靶向治療基因檢測臨床應用結(jié)果

染色體缺失在癌癥中確實比比皆是，并且在某些區(qū)域以非隨機方式檢測到。盡管它們的相關性仍然難以捉摸，但普遍認為節(jié)段性損失為細胞提供了選擇性生長優(yōu)勢。因此，這些可能包含控制正常生長和抑制惡性腫瘤的基因和/或調(diào)節(jié)序列。《基因解碼創(chuàng)新技術團隊》開發(fā)了一種基于單染色體雜合體的實驗模型，用于基因檢測中缺失的產(chǎn)生和功能分析，稱為“消除測試”（Et）。專注于人類 3 號染色體——已知它攜帶多個 3p 缺失——預計 Et 將 3p 腫瘤抑制區(qū)域限制在一個足夠小的片段上，從而允許選擇一個至關重要的候選基因。令人驚訝的是，基因解碼創(chuàng)新技術團隊檢測到三個區(qū)域在全部或大部分腫瘤中丟失：CER1 (3p21.3, Mb: 43.32-45.74)、CER2 (3p22, Mb: 37.83-39.06) 和 FER (3p14.3-p21.2, mb：50.12-58.03）。相比之下，定期保留 3q26-qter 區(qū)域 (CRR)。 CER1 - 基因解碼創(chuàng)新技術團隊的主要關注點 - 包含多個可能抑制腫瘤生長的基因，但 RIS1、LF (LTF) 和 LIMD1 這 3 個基因已經(jīng)獲得了必要的實驗支持，被認為是真正的腫瘤抑制因子。腫瘤抑制區(qū)域邊界顯示出不穩(wěn)定特征，包括：（1）它們在進化和腫瘤中斷裂，（2）它們水平進化，（3）它們富含假基因插入。斷點簇區(qū)域賊顯著的特征是驅(qū)動水平進化并導致癌癥相關不穩(wěn)定性的節(jié)段性重復。

腫瘤發(fā)生與反復轉(zhuǎn)移國際數(shù)據(jù)庫描述：

Chromosome deletions do abound in cancer and are detected in certain regions in a non-random manner. Although their relevance remains elusive, it is a general agreement that segmental losses provide the cell with selective growth advantage. Consequently these may contain genes and/or regulatory sequences that control normal growth and inhibit malignancy. We have developed a monochromosomal hybrid based experimental model for the generation and functional analysis of deletions, that is called "elimination test" (Et). Focused on human chromosome 3 - that was known to carry multiple 3p deletions - the Et was expected to restrict a 3p tumor suppressor region to a sufficiently small segment that permits the selection of a critically important candidate gene. Surprisingly, we detected three regions that were lost in all or majority of tumors: CER1 (3p21.3, Mb: 43.32-45.74), CER2 (3p22, Mb: 37.83-39.06) and FER (3p14.3-p21.2, Mb: 50.12-58.03). In contrast a 3q26-qter region (CRR) was regularly retained. CER1 - our main focus - contains multiple genes that may inhibit tumor growth, but 3 genes, RIS1, LF (LTF) and LIMD1 have already the necessary experimental support to be considered bona fide tumor suppressors. Tumor suppressor region borders display instability features including: (1) they break in evolution and in tumors, (2) they evolve horizontally, and (3) they are enriched with pseudogene insertions. The most remarkable features at the breakpoint cluster regions were segmental duplications that drive horizontal evolution and contribute to cancer associated instability.