Cancer incidence in families with multiple glioma patients

Paunu, Niina; Pukkala, Eero; Laippala, Pékka; Sankila, Risto; Isola, Jorma; Miettinen, Helena E.; Simola, K. O. J.; Helén, Pauli; Helin, Heikki; Haapasalo, Hannu

doi:10.1002/ijc.10107

Cited by 38 publications

(39 citation statements)

References 24 publications

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“…A total of 15 families with a clustering of melanoma and a variety of NST were identified, and 10 patients with two primary tumours, melanoma and NST, primarily meningioma were described (Azizi et al, 1995). Similar familial clustering of melanoma and NST was described in French (Bahuau et al, 1997) and Finnish families (Paunu et al, 2002). Recently, melanoma and NST association was confirmed by epidemiological and population-based studies in Scandinavia (O'Neill et al, 2002;Hemminki et al, 2003;Nielsen et al, 2004).…”

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confidence: 80%

Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours

et al. 2005

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To gain insight into the molecular mechanisms involved in the inherited predisposition to melanoma and associated neural system tumours, 42 Jewish, mainly Ashkenazi, melanoma families with or without neural system tumours were genotyped for germline point mutations and genomic deletions at the CDKN2A/ARF and CDK4 loci. CDKN2A/ARF deletion detection was performed using D9S1748, an intragenic microsatellite marker. Allele dosage at the p14 ARF locus was analysed by quantitative real-time PCR employing a TaqMan probe that anneals specifically to exon 1b of the p14 ARF gene. For detecting point mutations, dHPLC and direct sequencing of the coding sequences of CDKN2A/ARF and CDK4 was used. No germline alterations in any of the tested genes were detected among the families under study. We conclude that in the majority of Ashkenazi Jewish families, the genes tested are unlikely to be implicated in the predisposition to melanoma and associated neural system tumours.

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confidence: 80%

Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours

et al. 2005

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“…However, germline mutations did not increase significantly for familial PBTs. 24,25 In 2002, Paunu et al 26 performed the first linkage study for familial glioma, investigating 15 familial glioma pedigrees by using a two-stage disease gene mapping strategy for low-penetrance alleles. Their result indicated that 15q23-q26.3 harbors a novel susceptibility allele for familial glioma, and since their finding, improved higher resolution molecular genetic technology has marked the progress of mapping genetic changes in PBTs.…”

Section: Cytogenetic Markers Used For Molecular Epidemiology In Pbtsmentioning

confidence: 99%

Molecular Epidemiology of Primary Brain Tumors

Liu

Kyritsis

et al. 2009

Neurotherapeutics

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Summary:Although primary brain tumors (PBTs) are generally considered to be a multifactorial disorder, understanding the genetic basis and etiology of the disease is essential for PBT risk assessment. Understanding of the genetic susceptibility for PBT has come from studies of rare genetic syndromes, linkage analysis, family aggregation, early-onset pediatric cases, and mutagen sensitivity. There are currently no effective markers to assess biological dose of exposures and genetic heterogeneity. The priorities recently recommended by the Brain Tumor Epidemiology Consortium emphasized the need for expanding research in genetics and molecular epidemiology. In this article, we review the literature to identify molecular epidemiologic case-control studies of PBTs that were hypothesis-driven and focused on four hypothesized candidate pathways: DNA repair, cell cycle, metabolism, and inflammation. We summarize the results in terms of genetic associations of single nucleotide polymorphisms of these pathways. We also discuss future research directions based on available evidence and technologies, and conclude that high resolution whole genome approach with significantly large sample size could rapidly advance our understanding of the genetic etiology of PBTs. Literature searches were done on PubMed in March 2009 with the terms glioma, glioblastoma, brain tumor, association, and polymorphism, and we only reviewed English language publications.

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“…The search terms used for the TP53 codon 72 polymorphism resulted in 268 articles, 22 of which were relevant upon further review. Three articles contained overlapping data (28)(29)(30), eight were no-control studies (31)(32)(33)(34)(35)(36)(37), and one was a non-glioma brain tumor study (38). In addition, deviation from HWE was found in one publication (39) and the glioma data could not be extracted from another ( Fig.…”

Section: Resultsmentioning

confidence: 99%

TP53 codon 72 polymorphism and glioma risk: A meta-analysis

et al. 2011

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Abstract. TP53 codon 72 polymorphism has been reported to affect regulatory networks central to glioma development. Although a number of published studies noted the association between TP53 codon 72 polymorphism and glioma risk, their conclusions were inconsistent. A meta-analysis was used to assess the possible association between TP53 codon 72 polymorphism and glioma risk. The PubMed databases were searched, relevant articles were identified and data were retrieved based on the inclusion criteria. The odds ratio (OR) and 95% confidence interval (95% CI) were determined on the pooled dataset. We retrieved eight different studies including 2,260 glioma cases and 3,506 controls. However, no association was found between the TP53 codon 72 polymorphism and glioma risk regarding the comparison between glioma cases and the controls. By further stratification based on criteria such as tumor grade, and the geographical location of the patients and the relevant controls, we found a significant association in the subgroup of patients with high-grade glioma in Europeans compared to controls in two models of TP53 codon 72 polymorphism, which include the dominant model [C/C + G/C vs. G/G: OR=1.35, 95% CI (1.14, 1.59), P=0.0005, P h =0.13] and the additive model [C allele vs. G allele: OR=1.16, 95% CI (1.02, 1.33), P=0.03, P h =0.37]. Our analysis suggests that TP53 codon 72 polymorphism is associated with an increased risk of high-grade glioma development in Europeans.

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Cancer incidence in families with multiple glioma patients

Cited by 38 publications

References 24 publications

Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours

Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours

Molecular Epidemiology of Primary Brain Tumors

TP53 codon 72 polymorphism and glioma risk: A meta-analysis

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