Genetic variations as cancer prognostic markers: review and update

Savas, Sevtap; Liu, Geoffrey

doi:10.1002/humu.21078

Cited by 33 publications

(28 citation statements)

References 92 publications

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“…Similar results have been obtained for other complex diseases including neurological disorders (Simon-Sanchez and Singleton, 2008;Bertram and Tanzi, 2009), autoimmune diseases (Lettre and Rioux, 2008;Graham et al, 2009), cardiovascular disease (Arking and Chakravarti, 2009) and a number of different cancers (Savas and Liu, 2009) following multiple large genome-wide studies.…”

Section: Discussionsupporting

confidence: 69%

Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent

et al. 2010

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background: In spite of tremendous efforts by a number of groups, the search for single nucleotide polymorphisms (SNPs) strongly associated with male factor infertility by means of gene re-sequencing studies has yielded few likely candidates. A recent pilot, genome-wide SNP association study (GWAS) identified a list of SNPs associated with oligozoospermia and azoospermia. This is an expanded follow-up study of the SNPs identified by the GWAS as well as other SNPs from previously published gene re-sequencing studies.methods: On the basis of the pilot GWAS and SNPs with published associations with male infertility, 172 SNPs were genotyped in men with idiopathic azoospermia or oligozoospermia using the Illumina BeadXpressw platform.results: Several SNPs were identified or confirmed to be significantly associated with oligozoospermia and/or azoospermia. More importantly, this follow-up study indicates that, at least in Caucasian men, no single common SNP accounts for a significant proportion of spermatogenic failure cases.conclusions: The associations reported in this study are promising, but much larger genome-wide studies will be necessary to confidently validate these SNPs and identify novel SNPs associated with male infertility.

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Section: Discussionsupporting

confidence: 69%

Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent

et al. 2010

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“…Though traditional biomarkers such as tumor size, disease stage, and oral habits are reliable indicators of oral cancer prognostication, interpatient variability should also be taken into consideration [28]. Genetic variants can influence the treatment outcome and could be applied to clinical decisionmaking [29].…”

Section: Discussionmentioning

confidence: 99%

Combination of genetic variants in cyclin D1 and retinoblastoma genes predict clinical outcome in oral cancer patients

et al. 2015

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Oral cancer is a dreadful disease with a wide variation in geographical distribution. In order to identify some useful biomarkers for the disease prognosis, the present study assessed the influence of single nucleotide polymorphisms (SNPs) in cell cycle genes on survival in a well-annotated set of patients with oral squamous cell carcinoma (OSCC). The study examined 12 sequence variants or SNPs in selected cell cycle genes, with prognostic outcomes in 311 oral cancer patients. Our analysis showed that SNPs in cyclin D1:rs9344 and retinoblastoma:rs427686 genes showed a strong correlation with disease-free survival. In addition, the cumulative effect of these SNPs significantly and independently predicts the survival. Thus, the current study identified genotypes (SNP signature), which can be used as novel prognostic biomarkers to stratify patients based on disease-free survival and therefore maybe helpful in therapeutic decision-making.

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“…Thus, it is possible that AKNA expression plays a role in mechanisms that, if altered, could result in systemic and potentially fatal disorders. In keeping with this hypothesis, human AKNA is encoded by a single gene located within the FRA9E region of chromosome 9q32 [19], a common fragile site (CFS) linked to loss-of-function mutations that often lead to inflammatory and neoplastic diseases [20][21][22]. The recent finding that single nucleotide polymorphisms (SNP) within the human AKNA AT-hook domain increase the risk of cervical cancer [23] lends support to this concept.…”

Section: Introductionmentioning

confidence: 93%

Coordinate activation of inflammatory gene networks, alveolar destruction and neonatal death in AKNA deficient mice

Ortiz‐Quintero

Rangel

et al. 2011

Cell Res

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Gene expression can be regulated by chromatin modifiers, transcription factors and proteins that modulate DNA architecture. Among the latter, AT-hook transcription factors have emerged as multifaceted regulators that can activate or repress broad A/T-rich gene networks. Thus, alterations of AT-hook genes could affect the transcription of multiple genes causing global cell dysfunction. Here we report that targeted deletions of mouse AKNA, a hypothetical AT-hook-like transcription factor, sensitize mice to pathogen-induced inflammation and cause sudden neonatal death. Compared with wild-type littermates, AKNA KO mice appeared weak, failed to thrive and most died by postnatal day 10. Systemic inflammation, predominantly in the lungs, was accompanied by enhanced leukocyte infiltration and alveolar destruction. Cytologic, immunohistochemical and molecular analyses revealed CD11b + Gr1 + neutrophils as major tissue infiltrators, neutrophilic granule protein, cathelin-related antimicrobial peptide and S100A8/9 as neutrophil-specific chemoattracting factors, interleukin-1β and interferon-γ as proinflammatory mediators, and matrix metalloprotease 9 as a plausible proteolytic trigger of alveolar damage. AKNA KO bone marrow transplants in wildtype recipients reproduced the severe pathogen-induced reactions and confirmed the involvement of neutrophils in acute inflammation. Moreover, promoter/reporter experiments showed that AKNA could act as a gene repressor. Our results support the concept of coordinated pathway-specific gene regulation functions modulating the intensity of inflammatory responses, reveal neutrophils as prominent mediators of acute inflammation and suggest mechanisms underlying the triggering of acute and potentially fatal immune reactions.

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Genetic variations as cancer prognostic markers: review and update

Cited by 33 publications

References 92 publications

Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent

Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent

Combination of genetic variants in cyclin D1 and retinoblastoma genes predict clinical outcome in oral cancer patients

Coordinate activation of inflammatory gene networks, alveolar destruction and neonatal death in AKNA deficient mice

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