癌症基因组中rre的全基因组检测。a，在29种人类癌症类型的2509例患者中识别rre的方法方案:1，头颈部鳞状细胞癌(head - SCC);2、skin-melanoma;3、胶质母细胞瘤(CNS-GBM);4、髓母细胞瘤(CNS -髓母细胞瘤);5、毛细胞星形细胞瘤(CNS-PiloAstro);6、食管腺癌(Oeso - AdenoCA);7、骨肉瘤(Bone - Osteosarc);8、平滑肌肉瘤(Bone - Leiomyo);9、甲状腺腺癌(thyadenoca); 10, lung adenocarcinoma (Lung−AdenoCA); 11, lung squamous cell carcinoma (Lung−SCC); 12, mammary gland adenocarcinoma (Breast−AdenoCA); 13, B cell non-Hodgkin lymphoma (Lymph−BNHL); 14, chronic lymphocytic leukemia (Lymph−CLL); 15, acute myeloid leukemia (Myeloid−AML); 16, myeloproliferative neoplasm (Myeloid−MPN); 17, biliary adenocarcinoma (Biliary–AdenoCA); 18, hepatocellular carcinoma (Liver−HCC); 19, stomach adenocarcinoma (Stomach−AdenoCA); 20, pancreatic adenocarcinoma (Panc−AdenoCA); 21, pancreatic neuroendocrine tumor (Panc−Endocrine); 22, colorectal adenocarcinoma (ColoRect–AdenoCA); 23, prostatic adenocarcinoma (Prost−AdenoCA); 24, chromophobe renal cell carcinoma (Kidney–ChRCC); 25, renal cell carcinoma (Kidney–RCC); 26, papillary renal cell carcinoma (Kidney−pRCC); 27, uterine adenocarcinoma (Uterus−AdenoCA); 28, ovarian adenocarcinoma (Ovary−AdenoCA); 29, transitional cell carcinoma of the bladder (Bladder−TCC). b, Distribution of rREs across cancer types. c, Proportion of cancer genomes with rREs. d, STR mutation rate for cancer genomes with and without an rRE. Two-tailed Mann–Whitney test (n = 2,465 cancer genomes); NS, not significant. Boxes extend from the 25th percentile to the 75th percentile, the center line represents the median and whiskers represent minima and maxima. e, Distribution of rREs across MSS and MSI-high cancers. Chi-squared (two-tailed) test with Yates’ correction (n = 2,482 cancer genomes). Credit:自然(2022)。DOI: 10.1038 / s41586 - 022 - 05515 - 1
美国和加拿大的一组研究人员发现了人类癌症基因组中多次复发、重复扩张的证据。在他们发表在杂志上的论文中自然该小组描述了在国际癌症基因组联盟(International Cancer Genome Consortium)和癌症基因组图谱(the Cancer Genome Atlas)组织维护的数据库中搜索人类肿瘤重复扩张的过程。
