2021
DOI: 10.1016/j.mgene.2021.100925
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Association between the Cx371019 C > T genetic variant and risk of breast cancer

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Cited by 2 publications
(3 citation statements)
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“…Interestingly, the Cx37 319 residue is polymorphic in humans with either proline (Cx37-1019C) or serine (Cx37-1019T) residues present at high frequency within the general population [77][78][79][80][81]. The Cx37-1019C (Cx37-P319) variant -which presumably cannot be phosphorylated at the 319 site (but could be phosphorylated at nearby sites) -is strongly associated with increased risk for cardiovascular disease [78,80,81] and breast cancer [46]. Yet, in vitro studies in HeLa or SK-Hep-1 cancer cells find that Cx37-P319 -not Cx37-S319 -is growth suppressive [55].…”
Section: Phosphorylation Of Cx37 Likely Induces a Closed Channel Conf...mentioning
confidence: 99%
See 1 more Smart Citation
“…Interestingly, the Cx37 319 residue is polymorphic in humans with either proline (Cx37-1019C) or serine (Cx37-1019T) residues present at high frequency within the general population [77][78][79][80][81]. The Cx37-1019C (Cx37-P319) variant -which presumably cannot be phosphorylated at the 319 site (but could be phosphorylated at nearby sites) -is strongly associated with increased risk for cardiovascular disease [78,80,81] and breast cancer [46]. Yet, in vitro studies in HeLa or SK-Hep-1 cancer cells find that Cx37-P319 -not Cx37-S319 -is growth suppressive [55].…”
Section: Phosphorylation Of Cx37 Likely Induces a Closed Channel Conf...mentioning
confidence: 99%
“…While in the postischemic hindlimb this was almost completely protective from ischemic tissue damage [7, 9], loss of Cx37 cannot be considered wholly beneficial. For example, Cx37 downregulation (via application of TNFα) exacerbates the risk of vascular malformation in mice with Smad1/5 haploinsufficiency [38] (a model of the rare genetic disease Hereditary Hemorrhagic Telangiectasia in which Alk1 signaling is dysregulated), and Cx37 polymorphism in humans is associated with increased risk for breast cancer [46], a highly vascularized cancer type [47], which may be due, at least in part, to more aggressive tumor angiogenesis. In humans, somatic mutations that impact the first transmembrane domain of Cx37 (and likely alter Cx37 gap junction channel function) have been linked to the development of hepatic hemangiomas, which are vascular malformations characterized by enlarged or excessive blood vessels [48, 49].…”
Section: Cx37 In the Vasculature Links Hemodynamic Flow To Endothelia...mentioning
confidence: 99%
“…The prognosis and therapy of this cancer depend on the type of cancer and its stage ( Waks and Winer, 2019 ). Primarily, breast cancer therapy includes medications, chemotherapy, radiation, and surgery to remove cancer cells from the human body ( DeSantis et al, 2019 ; Tabadkani et al, 2021 ). Because multiple agents are implicated at the beginning of cancer, these agents can show different signs depending on the kind and place of the tumor.…”
Section: Introductionmentioning
confidence: 99%