Copy number alterations and neoplasia-specific mutations in MELK, PDCD1LG2, TLN1, and PAX5 at 9p in different neoplasias [0.03%]
9p区带MELK、PDCD1LG2、TLN1和PAX5在不同肿瘤中的拷贝数变异与特异性体细胞突变
Virinder Kaur Sarhadi,Leo Lahti,Ilari Scheinin et al.
Virinder Kaur Sarhadi et al.
Genetic alterations affecting 9p are commonly present in many cancer types and many cancer-related genes are located in this chromosomal region. We sequenced all of the genes located in a 32Mb region of 9p by targeted next generation sequen...
In multiple myeloma, 14q32 translocations are nonrandom chromosomal fusions driving high expression levels of the respective partner genes [0.03%]
在多发性骨髓瘤中，14q32易位是非随机的染色体重排，驱动相应配对基因高表达
Erming Tian,Jeffrey R Sawyer,Christoph J Heuck et al.
Erming Tian et al.
In studies of patients with multiple myeloma (MM), gene expression profiling (GEP) of myeloma cells demonstrates substantially higher expression of MMSET, FGFR3, CCND3, CCND1, MAF, and MAFB--the partner genes of 14q32 translocations--than G...
Chromosome 19 rearrangements in ovarian carcinomas: zinc finger genes are particularly targeted [0.03%]
卵巢癌的19号染色体重组：含锌指结构基因特别易受攻击
Marianne L Smebye,Anita Sveen,Lisbeth Haugom et al.
Marianne L Smebye et al.
Chromosome 19 is frequently rearranged in ovarian carcinomas, but the pathogenetic consequences of this are not clearly understood. We performed microarray gene expression analysis on 12 ovarian carcinomas that carry a rearranged chromosome...
Acute lymphoblastic leukemia with low hypodiploid/near triploid karyotype is a specific clinical entity and exhibits a very high TP53 mutation frequency of 93% [0.03%]
低超二倍体/近三倍体急性淋巴细胞白血病是一种独特的临床实体，且有很高的TP53突变频率（93%）
Verena Mühlbacher,Melanie Zenger,Susanne Schnittger et al.
Verena Mühlbacher et al.
B lymphoblastic leukemia/lymphoma (ALL) are subdivided by the WHO classification into five subgroups defined by specific translocations and two further subgroups defined by the number of chromosomes. The hypodiploid subgroup is heterogeneou...
Increased frequency of minimal homozygous deletions is associated with poor prognosis in primary malignant melanoma patients [0.03%]
初级黑色素瘤患者中微小纯合子缺失频率增加与预后不良相关
Sebastiana Boi,Toma Tebaldi,Angela Re et al.
Sebastiana Boi et al.
Identification of prognostic melanoma-associated copy number alterations (CNAs) is still an area of active research. Here, we investigated by high-resolution array comparative genomic hybridization (aCGH) a cohort of 31 paraffin-preserved p...
Liang Wang,Antonia Wenners,Felix Hilpert et al.
Liang Wang et al.
Aberrations of chromosome arm 19p in ovarian cancer were first described decades ago and have been confirmed in recent publications, which have focused on chromosome 11 as a translocation partner. Recently, genetic analysis of the ovarian c...
Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma [0.03%]
ATM-CHEK2-BRCA1轴的变异决定了乳头状甲状腺癌的遗传易感性和临床表现形式
Anna Wójcicka,Małgorzata Czetwertyńska,Michał Świerniak et al.
Anna Wójcicka et al.
The risk of developing papillary thyroid carcinoma (PTC), the most frequent form of thyroid malignancy, is elevated up to 8.6-fold in first-degree relatives of PTC patients. The familial risk could be explained by high-penetrance mutations ...
Comprehensive cytogenetic and molecular cytogenetic analysis of 44 Burkitt lymphoma cell lines: secondary chromosomal changes characterization, karyotypic evolution, and comparison with primary samples [0.03%]
伯基特淋巴瘤细胞系的染色体和分子细胞遗传学分析：继发性染色体重排、核型进化及其与原发样本的比较
Eva Maria Murga Penas,Georgia Schilling,Petra Behrmann et al.
Eva Maria Murga Penas et al.
Burkitt lymphoma cell lines (BL-CL) are used extensively as in vitro models in genetic studies; however, cytogenetic information is not always available or updated. We provide a comprehensive cytogenetic resource of 44 BL-CL, assessed by G-...
Comparative Study
Genes, chromosomes & cancer. 2014 Jun;53(6):497-515. DOI:10.1002/gcc.22161 2014
Consistent SMARCB1 homozygous deletions in epithelioid sarcoma and in a subset of myoepithelial carcinomas can be reliably detected by FISH in archival material [0.03%]
SMARCB1假二倍体缺失在上皮样肉瘤中具有一致性，并且在一个亚群的肌上皮癌中存在，可以使用FISH可靠检测到（回顾性资料）
Francois Le Loarer,Lei Zhang,Christopher D Fletcher et al.
Francois Le Loarer et al.
Epithelioid sarcomas (ES) are mesenchymal neoplasms subclassified into distal and proximal subtypes based on their distinct clinical presentations and histologic features. Consistent loss of SMARCB1 nuclear expression has been considered as...
Complex IGH rearrangements in multiple myeloma: Frequent detection discrepancies among three different probe sets [0.03%]
多发性骨髓瘤中复杂的IGH重排：三种不同探针集在检测中的频繁差异
Gina Y Kim,Ana Gabrea,Yulia N Demchenko et al.
Gina Y Kim et al.
Primary IGH translocations involving seven recurrent partner loci and oncogenes are present in about 40% of multiple myeloma tumors. Secondary IGH rearrangements, which occur in a smaller fraction of tumors, usually are complex structures, ...