Genes, Chromosomes and Cancer

Wiley Online Library : Genes, Chromosomes and Cancer

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A versatile system to introduce clusters of genomic double‐strand breaks in large cell populations

Abstract In vitro assays for clustered DNA lesions will facilitate the analysis of the mechanisms underlying complex genome rearrangements such as chromothripsis, including the recruitment of repair factors to sites of DNA double‐strand breaks. We present a novel method generating localized DNA double‐strand breaks using UV‐irradiation with photomasks....

MLLT10 rearranged acute leukemia: incidence, prognosis and possible therapeutic strategies

Abstract Rearrangements of the MLLT10 gene occur in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), most commonly T‐lineage ALL (T‐ALL), in patients of all ages. MLLT10 rearranged (MLLT10 r) acute leukemia presents a complex diagnostic and therapeutic challenge due to frequent presentation of immature or mixed phenotype, and...

Functional Mechanisms of miR‐192 Family in Cancer

Abstract By growing research on the mechanisms and functions of microRNAs (miRNAs, miRs), the role of these non‐coding RNAs gained more attention in healthcare. Due to the remarkable regulatory role of miRNAs, any dysregulation in their expression causes cellular functional impairment. In recent years, it has become increasingly apparent that these...

Gene Fusions Characterize a Subset of Uterine Cellular Leiomyomas

Abstract Uterine leiomyomas are the most common benign tumor of the female genital tract. Previous studies have shown that conventional leiomyomas often harbor specific alterations including rearrangements involving HMGA2 . Cellular leiomyomas are a variant of uterine leiomyoma that are less well studied from a genomic point of view. Morphologically...

Detection Of Tetraploidization In Chromophobe Renal Cell Carcinoma: Insights And Pitfalls

Abstract Chromosomal losses resulting in a marked hypodiploidy are a specificity of chromophobe renal cell carcinoma (ChRCC), the third most frequent type of kidney cancer. Its detection is useful in challenging cases. However some ChRCC, especially the eosinophilic variant, do not exhibit hypodiploidy and deserve to be better explored. Using comparative...

Activation of PLAG1 and HMGA2 by gene fusions involving the transcriptional regulator gene NFIB

Abstract The pleomorphic adenoma (PA), which is the most common salivary gland neoplasm, is a benign tumor characterized by recurrent chromosome rearrangements involving 8q12 and 12q14‐15. We have previously shown that the PLAG1 and HMGA2 oncogenes are the targets of these rearrangements. Here, we have identified previously unrecognized subsets of...

Table of Content Volume 59, Number 9, September 2020

Generation of pralatrexate resistant T‐cell lymphoma lines reveals two patterns of acquired drug resistance that is overcome with epigenetic modifiers

Abstract While pralatrexate (PDX) has been successfully developed for the treatment of T‐cell lymphoma, the mechanistic basis for its T‐cell selectivity and acquired resistance remains elusive. In an effort to potentially identify synergistic combinations that might circumnavigate or delay acquired PDX resistance, we generated resistant cells lines...

Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer

Abstract We describe a family severely affected by colorectal cancer (CRC) where whole‐exome sequencing identified the coinheritance of the germline variants encoding MSH6 p.Thr1100Met and MUTYH p.Tyr179Cys in, at least, three CRC patients diagnosed before 60 years of age. Digenic inheritance of monoallelic MSH6 variants of uncertain significance...

Frequency and prognostic impact of PAX5 p.P80R in pediatric acute lymphoblastic leukemia patients treated on an AIEOP‐BFM acute lymphoblastic leukemia protocol

Abstract PAX5 is a member of the paired box (PAX) family of transcription factors involved in B‐cell development. PAX5 P80R has recently been described as a distinct genetic B‐cell precursor (BCP) acute lymphoblastic leukemia (ALL) subtype with a favorable prognosis in adults. In contrast, an unfavorable outcome has been observed in children. Our...

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