Genetic variants and haplotypes of the<i>caspase-8</i>and<i>caspase-10</i>genes contribute to susceptibility to cutaneous melanoma

Li, Chunying; Zhao, Hui; Hu, Zhibin; Liu, Zhensheng; Wang, Li E.; Gershenwald, Jeffrey E.; Prieto, Víctor G.; Lee, Jeffrey E.; Duvic, Madeleine; Grimm, Elizabeth A.; Wei, Qingyi

doi:10.1002/humu.20803

Cited by 50 publications

(51 citation statements)

References 41 publications

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“…The protective association seems to pertain both to Caucasian and Chinese subjects; for the latter, however, the inadequate number of studies did not allow the random effects procedure to reach significant findings. The protective association demonstrated by this meta-analysis can be inscribed into a wider context, as CASP8 -652 6N del polymorphism has been associated with reduced risk for bladder [19], melanoma [20], pancreatic [21], lung, gastrointestinal, and cervical [7] cancer.…”

Section: Discussionmentioning

confidence: 91%

Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis

Sergentanis

Economopoulos

2009

Breast Cancer Res Treat

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Caspase-8 (CASP8) is an initiator caspase implicated in the process of apoptosis in breast cancer cells. Attention has been drawn upon two polymorphisms: CASP8 D302H (rs1045485) and, more recently, CASP8 -652 6N del (rs3834129). The CASP8 -652 6N del polymorphism remains an open field, as studies are controversial. This meta-analysis aims to examine: (i) the association between CASP8 -652 6N del and breast cancer risk, separately in Chinese and Caucasian populations, and (ii) the association between CASP8 D302H and breast cancer risk. Eligible articles were identified by a search of MEDLINE, Cochrane, and EMBASE bibliographical databases for the period from June 1996 to July 2009. Regarding -652 6N del, five case-control studies were eligible (12,439 breast cancer cases, 13,253 controls) and four case-control studies were eligible for D302H (18,791 breast cancer cases, 20,318 controls). In case significant heterogeneity was detected, the random effects model was chosen; nevertheless, the fixed effects estimates are also secondarily reported as an alternative approach. Where appropriate, power calculations were performed. CASP8 -652 6N del was associated with reduced breast cancer risk at a borderline level (for del carriers: pooled OR = 0.884, 95% CI: 0.761-1.028); the power calculation pointed to lack of power in the individual studies. In the Caucasian populations, the same results seem valid (for del carriers: pooled OR = 0.944, 95% CI: 0.884-1.008). The random effects model in Chinese subjects has not reached statistical significance (for del carriers: pooled OR = 0.811, 95% CI: 0.492-1.338). CASP8 D302H was associated with reduced breast cancer risk (for H carriers: pooled OR = 0.874, 95% CI: 0.834-0.917). In conclusion, both CASP8 -652 6N del and D302H polymorphisms are associated with reduced cancer risk. Further studies are needed to gain the optimal power on -652 6N del, especially in Chinese subjects, as well as to gain insight into D302H in Chinese populations.Keywords CASP8 D302H Á CASP8 -652 6N del Á Caspase-8 Á Polymorphism Á Breast cancer

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Section: Discussionmentioning

confidence: 91%

Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis

Sergentanis

Economopoulos

2009

Breast Cancer Res Treat

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“…24,25 Even though conflicting evidences have been presented, 26 this particular polymorphism has been associated with decreased risk of multiple cancers. 25,27 Similarly, a large study including 17 109 breast cancer patients (versus 16 423 controls) concluded that the CASP8 D302H polymorphism in some populations was associated with a reduced risk of breast cancer, 28 a correlation that has been confirmed also for other tumor types. 27 A CASP10 V410I substitution was also less frequently observed in patients suffering from breast cancer compared with control groups and the risk of carcinogenesis significantly decreased in individuals harboring a combination of these variant alleles, indicating a mutual protective effect.…”

Section: Casp Polymorphismmentioning

confidence: 95%

“…25,27 Similarly, a large study including 17 109 breast cancer patients (versus 16 423 controls) concluded that the CASP8 D302H polymorphism in some populations was associated with a reduced risk of breast cancer, 28 a correlation that has been confirmed also for other tumor types. 27 A CASP10 V410I substitution was also less frequently observed in patients suffering from breast cancer compared with control groups and the risk of carcinogenesis significantly decreased in individuals harboring a combination of these variant alleles, indicating a mutual protective effect. 29 Although the CASP8 D302H polymorphism has not yet been functionally investigated, an in vitro expression study concluded that the V410I variant impairs caspase-10-mediated apoptosis.…”

Section: Casp Polymorphismmentioning

confidence: 95%

Caspases and cancer

2011

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Evasion of apoptosis is considered to be one of the hallmarks of human cancers. This cell death modality is executed by caspases and several upstream regulatory factors, which direct their proteolytic activity, have been defined as either tumor suppressors or oncogenes. Often these regulatory factors, in addition to being potent apoptosis inducers, function in cell survival or repair signaling pathways in response to cellular stress. Thus, loss of function in a distinct regulatory mechanism does not necessarily mean that tumor formation is due to apoptosis malfunction resulting from insufficient caspase activation. Although each caspase has been assigned a distinct role in apoptosis, some redundancy with respect to their regulatory functions and substrate recognition is evident. Jointly, these proteases could be considered to possess solid tumor suppressor function, but what is the evidence that deregulation of specific caspases per se induces inappropriate cell survival, leading to enhanced tumorigenic potential? This question will be addressed in this review, which covers basic molecular mechanisms derived from in vitro analyses and emphasizes new insights that have emerged from in vivo and clinical studies. In organisms, excess cells during development, as well as potentially harmful cells resulting from pathophysiological conditions, are eliminated by various cell death modalities. Among them, apoptosis is the most investigated, and almost 40 years ago, it was described as a major defense strategy that prevents cells from acquiring tumorigenic potential. 1 This suicide mechanism is controlled by multiple and interrelated pathways ensuring that caspases, the proteolytic initiators and executioners of apoptosis, are triggered only in cells requiring termination. There is overwhelming experimental evidence supporting the idea that disturbances in the regulation of caspase activation are central for the avoidance of cancer cell death, both in vitro and in vivo. However, what evidences suggest that caspases per se act as tumor suppressors? It was reported that cells do not necessarily undergo caspaseindependent cell death in the absence of active caspases, but may instead survive insult and even promote clonogenic tumor growth. 2 Yet, it was unclear which individual caspases could fulfill this function. Recently, certain initiator caspases have been suggested as putative tumor suppressor genes. 3,4 This review is focusing on caspases and their role in tumor suppression, and emphasizing new evidences that have emerged from in vivo observations and clinical material, taking into consideration supporting in vitro data that has enlightened basic molecular mechanisms. CaspasesClassification of human caspases is based either on their function, the size of their pro-domain or cleavage specificity.Considering the first criteria, caspase-1, -4 and -5 belong to the group I (inflammatory) caspases that are involved in cytokine maturation. These proteases are primarily associated with the innate immunity against pathogens an...

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“…According to the inclusion criteria, 8 studies (MacPherson et al, 2004;Ye, 2004;Frank et al, 2006;Lan et al, 2007;Hosgood et al, 2008;Li et al, 2008;Gaudet et al, 2009;Ulybina et al, 2009) were included and 97 were excluded. A flow chart of the study selection process is shown in Figure 1.…”

Section: The Characteristics Of the Studies Includedmentioning

confidence: 99%

Role of CASP-10 gene polymorphisms in cancer susceptibility: a HuGE review and meta-analysis

Yan¹,

Li²,

Zhu³

et al. 2012

Genet. Mol. Res.

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ABSTRACT.We investigated a possible association between CASP-10 gene polymorphisms and susceptibility to cancer through a meta-analysis. Eight studies with a total of 29,936 cancer cases and 34,041 healthy controls were included. Meta-analysis results showed that the rs13006529*T carrier was significantly associated with increased cancer risk (OR = 1.17, 95%CI = 1.01-1.36, P = 0.03). However, rs3900115 and rs13010627 showed no association with cancer susceptibility (all P > 0.05). In the subgroup analysis by cancer type, we found that the rs13006529*T carrier was a risk factor for breast cancer (OR = 1.17, 95%CI = 1.01-1.36, P = 0.03). Similarly, no association was found between CASP-10 polymorphisms and susceptibility to lymphoma, myeloma, melanoma, or lung cancer (all P > 0.05). This meta-analysis suggests that the rs13006529*T carrier in the CASP-10 gene might be a risk factor for cancer susceptibility, especially for breast cancer.

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Genetic variants and haplotypes of thecaspase-8andcaspase-10genes contribute to susceptibility to cutaneous melanoma

Cited by 50 publications

References 41 publications

Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis

Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis

Caspases and cancer

Role of CASP-10 gene polymorphisms in cancer susceptibility: a HuGE review and meta-analysis

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