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Review

Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations

Departments of Molecular & Translational Medicine (MTM), Texas Tech University Health Science Center El Paso (TTUHSCEP), El Paso, TX 79905, USA
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Author to whom correspondence should be addressed.
J. Pers. Med. 2023, 13(4), 673; https://doi.org/10.3390/jpm13040673
Submission received: 20 March 2023 / Revised: 5 April 2023 / Accepted: 15 April 2023 / Published: 17 April 2023

Abstract

Cerebral cavernous malformations (CCMs) are abnormally dilated intracranial capillaries that form cerebrovascular lesions with a high risk of hemorrhagic stroke. Recently, several somatic “activating” gain-of-function (GOF) point mutations in PIK3CA (phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit p110α) were discovered as a dominant mutation in the lesions of sporadic forms of cerebral cavernous malformation (sCCM), raising the possibility that CCMs, like other types of vascular malformations, fall in the PIK3CA-related overgrowth spectrum (PROS). However, this possibility has been challenged with different interpretations. In this review, we will continue our efforts to expound the phenomenon of the coexistence of gain-of-function (GOF) point mutations in the PIK3CA gene and loss-of-function (LOF) mutations in CCM genes in the CCM lesions of sCCM and try to delineate the relationship between mutagenic events with CCM lesions in a temporospatial manner. Since GOF PIK3CA point mutations have been well studied in reproductive cancers, especially breast cancer as a driver oncogene, we will perform a comparative meta-analysis for GOF PIK3CA point mutations in an attempt to demonstrate the genetic similarities shared by both cancers and vascular anomalies.
Keywords: Cerebral cavernous malformations (CCMs); CCM signaling complex (CSC); familial CCM (fCCM); sporadic CCM (sCCM); phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit p110α (PIK3CA); tumor driver mutations; tumor passenger mutations; gain-of-function (GOF); PIK3CA-related overgrowth spectrum (PROS); vascular malformations (VMs); venous malformations (VeMs); developmental venous anomalies (DVAs) Cerebral cavernous malformations (CCMs); CCM signaling complex (CSC); familial CCM (fCCM); sporadic CCM (sCCM); phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit p110α (PIK3CA); tumor driver mutations; tumor passenger mutations; gain-of-function (GOF); PIK3CA-related overgrowth spectrum (PROS); vascular malformations (VMs); venous malformations (VeMs); developmental venous anomalies (DVAs)

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MDPI and ACS Style

Zhang, J.; Croft, J.; Le, A. Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations. J. Pers. Med. 2023, 13, 673. https://doi.org/10.3390/jpm13040673

AMA Style

Zhang J, Croft J, Le A. Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations. Journal of Personalized Medicine. 2023; 13(4):673. https://doi.org/10.3390/jpm13040673

Chicago/Turabian Style

Zhang, Jun, Jacob Croft, and Alexander Le. 2023. "Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations" Journal of Personalized Medicine 13, no. 4: 673. https://doi.org/10.3390/jpm13040673

APA Style

Zhang, J., Croft, J., & Le, A. (2023). Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations. Journal of Personalized Medicine, 13(4), 673. https://doi.org/10.3390/jpm13040673

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