典型文献
Fanconi anemia gene-associated germline predisposition in aplastic anemia and hematologic malignancies
文献摘要：
Whether Fanconi anemia(FA)heterozygotes are predisposed to bone marrow failure and hematologic neoplasm is a crucial but unsettled issue in cancer prevention and family consulting.We retrospectively analyzed rare possibly significant variations(PSVs)in the five most obligated FA genes,BRCA2,FANCA,FANCC,FANCD2,and FANCG,in 788 patients with aplastic anemia(AA)and hematologic malignancy.Sixty-eight variants were identified in 66 patients(8.38％).FANCA was the most frequently mutated gene(n=29),followed by BRCA2(n=20).Compared with that of the ExAC East Asian dataset,the overall frequency of rare PSVs was higher in our cohort(P=0.016).BRCA2 PSVs showed higher frequency in acute lymphocytic leukemia(P=0.038),and FANCA PSVs were significantly enriched in AA and AML subgroups(P=0.020;P=0.008).FA-PSV-positive MDS/AML patients had a higher tumor mutation burden,higher rate of cytogenetic abnormalities,less epigenetic regulation,and fewer spliceosome gene mutations than those of FA-PSV-negative MDS/AML patients(P=0.024,P=0.029,P=0.024,and P=0.013).The overall PSV enrichment in our cohort suggests that heterozygous mutations of FA genes contribute to hematopoietic failure and leukemogenesis.
文献关键词：
中图分类号：
作者姓名：
Daijing Nie;Jing Zhang;Fang Wang;Xvxin Li;Lili Liu;Wei Zhang;Panxiang Cao;Xue Chen;Yang Zhang;Jiaqi Chen;Xiaoli Ma;Xiaosu Zhou;Qisheng Wu;Ming Liu;Mingyue Liu;Wenjun Tian;Hongxing Liu
作者机构：
Division of Laboratory Medicine,Hebei Yanda Lu Daopei Hospital,Langfang 065201,China;Beijing Lu Daopei Institute of Hematology,Beijing 100176,China;Division of Pathology&Laboratory Medicine,Beijing Lu Daopei Hospital,Beijing 100176,China;Department of Clinical Laboratory Medicine,Shandong Provincial Hospital Affiliated to Shandong University,Jinan 250021,China
文献出处：
引用格式：
[1]Daijing Nie;Jing Zhang;Fang Wang;Xvxin Li;Lili Liu;Wei Zhang;Panxiang Cao;Xue Chen;Yang Zhang;Jiaqi Chen;Xiaoli Ma;Xiaosu Zhou;Qisheng Wu;Ming Liu;Mingyue Liu;Wenjun Tian;Hongxing Liu-.Fanconi anemia gene-associated germline predisposition in aplastic anemia and hematologic malignancies)[J].医学前沿,2022(03):459-466
A类：
PSVs,obligated,FANCC,FANCG
B类：
Fanconi,anemia,associated,germline,predisposition,aplastic,hematologic,malignancies,Whether,heterozygotes,predisposed,bone,marrow,failure,neoplasm,crucial,unsettled,issue,cancer,prevention,family,consulting,We,retrospectively,analyzed,rare,possibly,variations,five,most,BRCA2,FANCA,FANCD2,patients,AA,malignancy,Sixty,eight,variants,were,identified,was,frequently,mutated,followed,by,Compared,that,ExAC,East,Asian,dataset,overall,frequency,higher,our,cohort,showed,acute,lymphocytic,leukemia,significantly,enriched,AML,subgroups,positive,MDS,had,tumor,burden,rate,cytogenetic,abnormalities,less,epigenetic,regulation,fewer,spliceosome,mutations,than,those,negative,enrichment,suggests,heterozygous,contribute,hematopoietic,leukemogenesis
AB值：
0.556477
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机标中图分类号，由域田数据科技根据网络公开资料自动分析生成，仅供学习研究参考。
