Dissertation committee:
Μπράμης Ιωάννης, Ζωγράφος Γεώργιος, Μανουράς Ανδρέας, Κόντζογλου Κωνσταντίνος, Λυμπέρη Μαρία, Γαζούλη Μαρία, Θεοδωρόπουλος Γεώργιος
Summary:
Caspases play role in the development of cancer.We evaluated the association
between rs4645978 and rs4645981 polymorphisms of CASP9 gene and the risk of
breast cancer (BC).261 patients with BC and 480 healthy controls was the
population of the study.Carriers of rs4645978 G allele (AG and GG genotypes)
were at higher risk for BC.The rs4645978 GG genotype, in particular, was
associated with the highest risk for BC.Similarly, individuals with at least
one rs4645981 T allele were at a significantly increased risk of developing BC
and the risk of BC increased with increasing numbers of rs4645981 T
alleles.SDF-1 is a chemokine that has been associated with the egress of cancer
cells from the primary focus and homing to distant sites, while E-selectin has
been implicated in their transendothelial migration.This study was performed to
evaluate the association between SDF-1–3’ A and S128R and the risk of BC and
their influence on breast cancer outcome.The frequencies for the wild-type
(GG), GA and AA genotypes of SDF-1 were 43.7, 45.2, and 11.1 % in patients, and
51.5, 41.3, and 7.3 % in healthy controls, respectively, while the SDF-1–3’ A
allelic frequency was 33.7 % at patients and 27.9 % at controls.The SDF-1–3’ A
carrier group of patients was overrepresented among BC cases(p = 0.04).For the
S128R the frequencies for the wild-type (AA), AC and CC genotypes were 58.6,
38.3, and 3.1 % in patients and 63.8, 31.4, and 3.8 % in controls,
respectively, while the C allelic frequency was 22.2 % for patients and 19.5 %
for controls.The CC genotype was associated with poorer survival.Overall, our
findings support that the SDF-1–3’ A confers increased susceptibility to breast
cancer and that the E-selectin S128R CC genotype may be related to poorer
prognosis.
Keywords:
Breast cancer, Polymorphisms, Caspase-9, SDF-1, E-selectin
