Update on testicular germ cell tumors

Nallu, Anitha; Chimakurthi, Roja; Hussain, Arif; Mannuel, Heather D

doi:10.1097/cco.0000000000000068

Cited by 2 publications

(3 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, genome wide association studies identified a number of single nucleotide polymorphisms (SNPs) associated with TGCT, suggesting a strong genetic component for this cancer (Rapley et al 2009, Nallu et al 2014, Litchfield et al 2015, Rajpert-De Meyts et al 2016. These new TGCT susceptibility loci contain biologically plausible genes encoding proteins important for male germ cell development, chromosomal segregation and the DNA damage response (Koster et al 2014, Rajpert-De Meyts et al 2016.…”

Section: :3mentioning

confidence: 99%

“…Testicular germ cell tumors (TGCTs) are the most frequent solid malignancy in young men aged between 15 and 35 years. Most of TGCTs are sporadic, but the heritability is high, and positive family history represents a well-established risk factor (Nallu et al 2014, Rajpert-De Meyts et al 2016. Other known risk factors are a prior TGCT, infertility, cryptorchidism and testicular microlithiasis (Nallu et al 2014, Rajpert-De Meyts et al 2016.…”

Section: Introductionmentioning

confidence: 99%

“…Most of TGCTs are sporadic, but the heritability is high, and positive family history represents a well-established risk factor (Nallu et al 2014, Rajpert-De Meyts et al 2016. Other known risk factors are a prior TGCT, infertility, cryptorchidism and testicular microlithiasis (Nallu et al 2014, Rajpert-De Meyts et al 2016. The genetic contribution to TGCT susceptibility is substantial, and over the last years, many studies have been focused on the role of genes potentially related to TGCT development (Kanetsky et al 2009, Ferlin et al 2010, Ferlin et al 2012.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Copy number variations of E2F1: a new genetic risk factor for testicular cancer

Rocca¹,

Nisio²,

Marchiori³

et al. 2017

Endocrine-Related Cancer

View full text Add to dashboard Cite

Testicular germ cell tumor (TGCT) is one of the most heritable forms of cancer. In last years, many evidence suggested that constitutional genetic factors, mainly single nucleotide polymorphisms, can increase its risk. However, the possible contribution of copy number variations (CNVs) in TGCT susceptibility has not been substantially addressed. Indeed, an increasing number of studies have focused on the effect of CNVs on gene expression and on the role of these structural genetic variations as risk factors for different forms of cancer. E2F1 is a transcription factor that plays an important role in regulating cell growth, differentiation, apoptosis and response to DNA damage. Therefore, deficiency or overexpression of this protein might significantly influence fundamental biological processes involved in cancer development and progression, including TGCT. We analyzed CNVs in 261 cases with TGCT and 165 controls. We found no CNVs in controls, but 17/261 (6.5%) cases showed duplications in Blot analysis demonstrated higher E2F1 expression in testicular samples of TGCT cases with three copies of the gene. Furthermore, we observed higher phosphorylation of Akt and mTOR in samples with duplication. Interestingly, normal, non-tumoral testicular tissue in patient with duplication showed lower expression of E2F1 and lower AKT/mTOR phosphorylation with respect to adjacent tumor tissue. Furthermore, increased expression of E2F1 obtained in NTERA-2 testicular cell line induced increased AKT/mTOR phosphorylation. This study suggests for the first time an involvement of CNVs in TGCT susceptibility and supports previous preliminary data on the importance of AKT/mTOR signaling pathway in this cancer.

show abstract