Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma

Blank, Cornelia; Schoenmakers, Eric; Rogalla, Piere; Huys, Erik; Rijk, A.A.F. van; Drieschner, Norbert; Bullerdiek, Jörn

doi:10.1159/000057011

Cited by 18 publications

(8 citation statements)

References 7 publications

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“…Compulsive buying is prevalent in areas in which the consumer culture predominates (Black, 2001). Psychological variables believed to operate in compulsive buying in Western research were conceptualized into two separate pathways and validated here with a Chinese college sample.…”

Section: Discussionmentioning

confidence: 99%

Gender Differences in Pathways to Compulsive Buying in Chinese College Students in Hong Kong and Macau

Ching¹,

Tang²,

Wu³

et al. 2016

J Behav Addict

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Background and aimsThe addictive nature of compulsive buying implies that mood disturbances, stress, and cognitive biases that underlie compulsive buying might operate in ways similar in both genders. In the current study, we aimed to test hypothetical pathways of mood compensation and irrational cognitions, which may explain compulsive buying tendencies. We also examined potential gender differences in these pathways.MethodsTwo-hundred and thirty-two male (age: M = 20.30, SD = 1.74) and 373 female Chinese college students (age: M = 19.97, SD = 1.74) in Hong Kong and Macau completed measures assessing compulsive buying, psychological distress, avoidance coping, materialism, and buying-related cognitions. Mediation analyses via a structural equation modeling approach explained by Cheung (2007, 2009) were conducted, with gender as a grouping variable.ResultsThere was a gender difference in the mood compensation pathway; avoidance coping partially mediated the link between psychological distress and compulsive buying severity in females only. On the other hand, the irrational cognitive pathway, in which irrational buying-related cognitions fully mediated the link between materialism and compulsive buying severity, was supported for both genders. There was no gender difference in the extent of mediation within the irrational cognitive pathway, and the mediation effect within the irrational cognitive pathway was larger than that within the mood compensation pathway for both genders.ConclusionsMood compensation processes in compulsive buying might be female specific, and secondary to irrational cognitions, which were gender invariant. Gender-dependent mechanisms and irrational cognitions should be emphasized in compulsive buying treatment.

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Section: Discussionmentioning

confidence: 99%

Gender Differences in Pathways to Compulsive Buying in Chinese College Students in Hong Kong and Macau

Ching¹,

Tang²,

Wu³

et al. 2016

J Behav Addict

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“…In pseudo-Meigs' syndrome, which is characterized by uterine leiomyomas, ascites, and pleural effusion, a combination of the HMGA2/RAD51L1 fusion and a loss of the second RAD51L1 allele were observed (29). In addition, RAD51B is involved in other types of balanced chromosome translocations in pulmonary chondroid hamartomas (30) and thymomas (31). These studies indicate that at least one allele of RAD51B is altered in some benign tumors, but the key pathologic event is still unclear.…”

Section: Introductionmentioning

confidence: 95%

Haploinsufficiency of RAD51B Causes Centrosome Fragmentation and Aneuploidy in Human Cells

Date

Katsura²,

Ishida³

et al. 2006

Cancer Research

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The Rad51-like proteins, Rad51B, Rad51C, Rad51D, XRCC2, and XRCC3, have been shown to form two distinct complexes and seem to assist Rad51 in the early stages of homologous recombination. Although these proteins share sequence similarity with Rad51, they do not show functional redundancy. Among them, Rad51B is unique in that the gene maps to the human chromosome 14q23-24, the region frequently involved in balanced chromosome translocations in benign tumors particularly in uterine leiomyomas. Despite accumulating descriptive evidence of altered Rad51B function in these tumors, the biological significance of this aberration is still unknown. To assess the significance of reduced Rad51B function, we deleted the gene in the human colon cancer cell line HCT116 by gene targeting. Here, we show that haploinsufficiency of RAD51B causes mild hypersensitivity to DNAdamaging agents, a mild reduction in sister chromatid exchange, impaired Rad51 focus formation, and an increase in chromosome aberrations. Remarkably, haploinsufficiency of RAD51B leads to centrosome fragmentation and aneuploidy. In addition, an f50% reduction in RAD51B mRNA levels by RNA interference also leads to centrosome fragmentation in the human fibrosarcoma cell line HT1080. These findings suggest that the proper biallelic expression of RAD51B is required for the maintenance of chromosome integrity in human cells. (Cancer Res 2006; 66(12): 6018-24)

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“…Interesting, HMGA2 was recently proved to be directly involved in DSBR pathway (30,31). RAD51L1 is also involved in the frequently occurring t (6;14) (p21;q23/q24) in pulmonary chondroid hamartomas (32). In addition, a recent genome-wide association study identified RAD51L1 as a new susceptibility gene for breast cancer risk (33).…”

Section: Discussionmentioning

confidence: 99%

Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk

Liu

Shete²,

Wang

et al. 2010

Carcinogenesis

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Background: DNA strand breaks pose the greatest threat to genomic stability. Genetically determined mutagen sensitivity predisposes individuals to a variety of cancers, including glioma. However, polymorphisms in DNA strand break repair genes that may determine mutagen sensitivity are not well studied in cancer risk, especially in gliomas. Methods: We correlated genotype data for tag single-nucleotide polymorphisms (tSNPs) of DNA strand break repair genes with a gamma-radiation-induced mutagen sensitivity phenotype [expressed as mean breaks per cell (B/C)] in samples from 426 glioma patients. We also conducted analysis to assess joint and haplotype effects of single-nucleotide polymorphisms (SNPs) on mutagen sensitivity. We further validate our results in an independent external control group totaling 662 subjects. Results: Of the 392 tSNPs examined, we found that mutagen sensitivity was modified by one tSNP in the EME2 gene and six tSNPs in the RAD51L1 gene (P < 0.01). Among the six RAD51L1 SNPs tested in the validation set, one (RAD51L1 rs2180611) was significantly associated with mutagen sensitivity (P 5 0.025). Moreover, we found a significant dose-response relationship between the mutagen sensitivity and the number of adverse tSNP genotypes. Furthermore, haplotype analysis revealed that RAD51L1 haplotypes F-A (zero adverse allele) and F-E (six adverse alleles) exhibited the lowest (0.42) and highest (0.93) mean B/C values, respectively. A similar dose-response relationship also existed between the mutagen sensitivity and the number of adverse haplotypes. Conclusion: These results suggest that polymorphisms in and haplotypes of the RAD51L1 gene, which is involved in the double-strand break repair pathway, modulate gammaradiation-induced mutagen sensitivity.

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Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma

Cited by 18 publications

References 7 publications

Gender Differences in Pathways to Compulsive Buying in Chinese College Students in Hong Kong and Macau

Gender Differences in Pathways to Compulsive Buying in Chinese College Students in Hong Kong and Macau

Haploinsufficiency of RAD51B Causes Centrosome Fragmentation and Aneuploidy in Human Cells

Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk

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