{"title":"t(6;12)(q22;p13) ETV6/FRK","authors":"T. Gindina","doi":"10.4267/2042/70649","DOIUrl":"https://doi.org/10.4267/2042/70649","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42877449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
FANCB protein is a component of the Fanconi Anemia (FA) core complex needed for DNA repair. Within the core complex, FANCB forms a protein subcomplex with two other proteins, FAAP100, and an E3 RING ligase FANCL (BL100) to monoubiquitinate FANCD2 and FANCI (ID2), a process that is defective in 95% of all FA patients. FA is a rare, genetic cancer pre-disposition syndrome characterized by chromosomal instability and hypersensitivity to DNA crosslinking agents, such as those used in chemotherapy like mitomycin C (MMC) (Kennedy D'Andrea, 2006). FANCB is the only known X-linked FA gene, and mutations account for 1% of FA cases (Alter Rosenberg, 2013).
{"title":"FANCB (FA complementation group B)","authors":"Sylvie Van Twest, A. Deans","doi":"10.4267/2042/70644","DOIUrl":"https://doi.org/10.4267/2042/70644","url":null,"abstract":"FANCB protein is a component of the Fanconi Anemia (FA) core complex needed for DNA repair. Within the core complex, FANCB forms a protein subcomplex with two other proteins, FAAP100, and an E3 RING ligase FANCL (BL100) to monoubiquitinate FANCD2 and FANCI (ID2), a process that is defective in 95% of all FA patients. FA is a rare, genetic cancer pre-disposition syndrome characterized by chromosomal instability and hypersensitivity to DNA crosslinking agents, such as those used in chemotherapy like mitomycin C (MMC) (Kennedy D'Andrea, 2006). FANCB is the only known X-linked FA gene, and mutations account for 1% of FA cases (Alter Rosenberg, 2013).","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44982680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Review on 6p deletion in myeloid malignancies. The neighbor genes JARID2 and DTNBP1: possible relation and clinical relevance.
髓系恶性肿瘤6p缺失的研究进展。相邻基因JARID2和DTNBP1：可能的关系和临床相关性。
{"title":"del(6p) (loss of JARID2 and DTNBP1) in myeloid malignances","authors":"L. Mitev","doi":"10.4267/2042/70614","DOIUrl":"https://doi.org/10.4267/2042/70614","url":null,"abstract":"Review on 6p deletion in myeloid malignancies. The neighbor genes JARID2 and DTNBP1: possible relation and clinical relevance.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48246157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D. Moreno-Lorenzana, R. Juárez-Velázquez, D. Martínez-Anaya, Patricia Péez-Vera
CRLF2 is a member of type I cytokine receptor family. CRLF2 forms a functional complex with IL7 receptor α chain and thymic stromal lymphopoietin, this complex induces the activation of signal transducers and activators of transcription proteins. The overexpression of CRLF2 induced by genetic rearrangements has been described in acute lymphoblastic leukemia.
{"title":"CRLF2 (Cytokine receptor like factor 2)","authors":"D. Moreno-Lorenzana, R. Juárez-Velázquez, D. Martínez-Anaya, Patricia Péez-Vera","doi":"10.4267/2042/70641","DOIUrl":"https://doi.org/10.4267/2042/70641","url":null,"abstract":"CRLF2 is a member of type I cytokine receptor family. CRLF2 forms a functional complex with IL7 receptor α chain and thymic stromal lymphopoietin, this complex induces the activation of signal transducers and activators of transcription proteins. The overexpression of CRLF2 induced by genetic rearrangements has been described in acute lymphoblastic leukemia.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46359305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"t(10;10)(p12;q21) CTNNA3/ARHGAP21","authors":"J. Huret","doi":"10.4267/2042/70610","DOIUrl":"https://doi.org/10.4267/2042/70610","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42916690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Artistic creativity and mental handicap","authors":"J. Huret","doi":"10.4267/2042/70617","DOIUrl":"https://doi.org/10.4267/2042/70617","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48142279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Isochromosome of the short arm of chromosome 5 is an infrequent chromosome anomaly that has been reported in myeloid, and less frequently in in lymphoid malignancies, including leukemia and lymphomas.
{"title":"i(5)(p10) in hematological malignancies","authors":"A. Zámečníkova","doi":"10.4267/2042/70576","DOIUrl":"https://doi.org/10.4267/2042/70576","url":null,"abstract":"Isochromosome of the short arm of chromosome 5 is an infrequent chromosome anomaly that has been reported in myeloid, and less frequently in in lymphoid malignancies, including leukemia and lymphomas.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44563492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Review on t(1;1)(q24;q25)/inv(1)(q24q25), with data on clinics, and the genes involved
回顾t(1;1)(q24;q25)/inv(1)(q24q25)，临床数据和相关基因
{"title":"t(1;1)(q24;q25) RCSD1/ABL2::inv(1)(q24q25) RCSD1/ABL2","authors":"B. Gaillard","doi":"10.4267/2042/70529","DOIUrl":"https://doi.org/10.4267/2042/70529","url":null,"abstract":"Review on t(1;1)(q24;q25)/inv(1)(q24q25), with data on clinics, and the genes involved","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45084542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Short communication on succinate dehydrogenasedeficient renal cell carcinoma.
琥珀酸脱氢酶缺乏型肾细胞癌的短通讯。
{"title":"Kidney: Succinate dehydrogenase-deficient renal cell carcinoma","authors":"P. Cin","doi":"10.4267/2042/70535","DOIUrl":"https://doi.org/10.4267/2042/70535","url":null,"abstract":"Short communication on succinate dehydrogenasedeficient renal cell carcinoma.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47334836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"der(3)t(3;3)(p25-26;q12-21)","authors":"A. Zamecnikova","doi":"10.4267/2042/70577","DOIUrl":"https://doi.org/10.4267/2042/70577","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49335495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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