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Low Mutational Burden of Eight Genes Involved in the MAPKERK, PI3KAKT, and GNAQ11 Pathways in Female Genital Tract Primary Melanomas
Joint Authors
Pappa, Kalliopi I.
Roubelakis, Maria G.
Kalafati, Theodora G.
Georgios, Vlachos
Dimitrios, Vlachos
Loutradis, Dimitrios
Anagnou, Nicholas P.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-01-28
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
Mucosal melanomas exhibit discrete genetic features compared to cutaneous melanoma.
Limited studies on gynecological melanomas revealed significant heterogeneity and low mutational burden.
To gain further insight into their genetics and DNA repair efficiency, we systematically investigated the status of eight genes whose products are critically involved in the MAPK/ERK, PI3K/AKT, and GNAQ/11 pathways, including BRAF, NRAS, HRAS, KRAS, c-KIT, PI3K, GNAQ, and GNA11, in a series of 16 primary gynecological melanomas, covering all anatomical locations, ranging from stages I to III.
Analysis either by real-time PCR coupled with fluorescence melting curve analysis or by PCR followed by direct sequencing, along with studies for DNA mismatch repair status using immunohistochemistry, disclosed that 15 out of the 16 cases displayed wild-type genotypes, with a single case of vulvar primary melanoma, harboring the activating mutation BRAFV600E.
Investigations on whether this could reflect partly an efficient mismatch repair (MMR) mechanism were confirmed by normal expression of hMLH1 and hMSH2, suggesting that the lack of mutations could be explained by the operation of alternative pathogenetic mechanisms modulating downstream effectors of the signaling pathways.
Our data suggest the presence of additional genetic components and provide the impetus for systematic approaches to reveal these yet unidentified genetic parameters.
American Psychological Association (APA)
Pappa, Kalliopi I.& Georgios, Vlachos& Roubelakis, Maria G.& Dimitrios, Vlachos& Kalafati, Theodora G.& Loutradis, Dimitrios…[et al.]. 2015. Low Mutational Burden of Eight Genes Involved in the MAPKERK, PI3KAKT, and GNAQ11 Pathways in Female Genital Tract Primary Melanomas. BioMed Research International،Vol. 2015, no. 2015, pp.1-10.
https://search.emarefa.net/detail/BIM-1054967
Modern Language Association (MLA)
Pappa, Kalliopi I.…[et al.]. Low Mutational Burden of Eight Genes Involved in the MAPKERK, PI3KAKT, and GNAQ11 Pathways in Female Genital Tract Primary Melanomas. BioMed Research International No. 2015 (2015), pp.1-10.
https://search.emarefa.net/detail/BIM-1054967
American Medical Association (AMA)
Pappa, Kalliopi I.& Georgios, Vlachos& Roubelakis, Maria G.& Dimitrios, Vlachos& Kalafati, Theodora G.& Loutradis, Dimitrios…[et al.]. Low Mutational Burden of Eight Genes Involved in the MAPKERK, PI3KAKT, and GNAQ11 Pathways in Female Genital Tract Primary Melanomas. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-10.
https://search.emarefa.net/detail/BIM-1054967
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1054967