Cancer risks associated with the germline MITF(E318K) variant
Autor: | Samantha M. Guhan, Mykyta Artomov, Alexander J. Stratigos, Hensin Tsao, Kristen M. Shannon, Shelley R. McCormick, Ching-Ni Njauw, Leif W. Ellisen |
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Jazyk: | angličtina |
Rok vydání: | 2020 |
Předmět: |
Oncology
medicine.medical_specialty Skin Neoplasms lcsh:Medicine Germline Article 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Risk Factors Internal medicine Neoplasms Cancer screening Exome Sequencing medicine Carcinoma Genetics Skin cancer Humans Genetic Predisposition to Disease lcsh:Science Cancer genetics Carcinoma Renal Cell Melanoma Germ-Line Mutation Microphthalmia-Associated Transcription Factor Multidisciplinary business.industry lcsh:R Cancer medicine.disease Microphthalmia-associated transcription factor Germ Cells 030220 oncology & carcinogenesis Meta-analysis Cutaneous melanoma lcsh:Q business |
Zdroj: | Scientific Reports, Vol 10, Iss 1, Pp 1-5 (2020) Scientific Reports |
ISSN: | 2045-2322 |
Popis: | The MITF(E318K) variant confers moderate risk for cutaneous melanoma. While there are small studies suggesting that this risk is associated with other malignancies (e.g. renal cell carcinoma), little is known about the role of this variant in specifying risk for other cancers. In this study, we perform a systematic review and meta-analysis of the published data as a backdrop to a whole-exome sequence(WES)-based characterization of MITF(E318K) risk for various cancers in sporadic samples from the TCGA and several genetically-enriched patient cohorts. We found minimal evidence of MITF(E318K)’s contribution to non-melanoma cancer risk among individuals with low inherited risks of melanoma (OR 1.168; 95% CI 0.78–1.74; p = 0.454), suggesting that earlier reports of an association between this variant and other malignancies may be related to shared environmental or polygenic risk factors rather than MITF(E318K). Interestingly, an association was observed with uterine carcinosarcoma, (OR 9.24; 95% CI 2.08–37.17; p = 0.024), which was not previously described. While more research needs to be completed, this study will help update cancer screening recommendations for patients with the MITF(E318K) variant. |
Databáze: | OpenAIRE |
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