Association of the polymorphism of the CAG repeat in the mitochondrial DNA polymerase gamma gene (POLG) with testicular germ-cell cancer
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Association of the polymorphism of the CAG repeat in the mitochondrial DNA polymerase gamma gene (POLG) with testicular germ-cell cancer. / Blomberg Jensen, M; Leffers, H; Petersen, J H; Daugaard, G; Skakkebaek, N E; Rajpert-De Meyts, E.
In: Annals of Oncology, Vol. 19, No. 11, 2008, p. 1910-4.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Association of the polymorphism of the CAG repeat in the mitochondrial DNA polymerase gamma gene (POLG) with testicular germ-cell cancer
AU - Blomberg Jensen, M
AU - Leffers, H
AU - Petersen, J H
AU - Daugaard, G
AU - Skakkebaek, N E
AU - Rajpert-De Meyts, E
N1 - Keywords: Adult; Alleles; Case-Control Studies; DNA-Directed DNA Polymerase; Genotype; Humans; Male; Neoplasm Staging; Neoplasms, Germ Cell and Embryonal; Polymorphism, Genetic; Testicular Neoplasms; Trinucleotide Repeats
PY - 2008
Y1 - 2008
N2 - BACKGROUND: A possible association between the polymorphic CAG repeat in the DNA polymerase gamma (POLG) gene and the risk of testicular germ-cell tumours (TGCT) was investigated in this study. The hypothesis was prompted by an earlier preliminary study proposing an association of the absence of the common 10-CAG-long POLG allele with testicular cancer as well as previously reported in some European populations' association with male subfertility, which is a condition carrying an increased risk of TGCT. PATIENTS AND METHODS: The number of CAG repeats in both POLG alleles was established in 243 patients with TGCT and in 869 controls by the analysis of the genomic DNA fragment. RESULTS: A significantly higher proportion of men homozygous allele of other than the common 10 CAG repeats was found among the patients with TGCT in comparison to the controls (4.9% versus 1.3%, respectively, P = 0.001). The vast majority of the homozygous patients had a seminoma (11 of 12; 97%), despite that only about half (55%) of the studied patients had this tumour type. CONCLUSIONS: The findings indicate that the POLG polymorphism may be a contributing factor in the pathogenesis of TGCT particularly in seminoma, but the mechanisms remain to be elucidated.
AB - BACKGROUND: A possible association between the polymorphic CAG repeat in the DNA polymerase gamma (POLG) gene and the risk of testicular germ-cell tumours (TGCT) was investigated in this study. The hypothesis was prompted by an earlier preliminary study proposing an association of the absence of the common 10-CAG-long POLG allele with testicular cancer as well as previously reported in some European populations' association with male subfertility, which is a condition carrying an increased risk of TGCT. PATIENTS AND METHODS: The number of CAG repeats in both POLG alleles was established in 243 patients with TGCT and in 869 controls by the analysis of the genomic DNA fragment. RESULTS: A significantly higher proportion of men homozygous allele of other than the common 10 CAG repeats was found among the patients with TGCT in comparison to the controls (4.9% versus 1.3%, respectively, P = 0.001). The vast majority of the homozygous patients had a seminoma (11 of 12; 97%), despite that only about half (55%) of the studied patients had this tumour type. CONCLUSIONS: The findings indicate that the POLG polymorphism may be a contributing factor in the pathogenesis of TGCT particularly in seminoma, but the mechanisms remain to be elucidated.
U2 - 10.1093/annonc/mdn407
DO - 10.1093/annonc/mdn407
M3 - Journal article
C2 - 18632724
VL - 19
SP - 1910
EP - 1914
JO - Annals of Oncology
JF - Annals of Oncology
SN - 0923-7534
IS - 11
ER -
ID: 21998075