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Cancer risks associated with the germline MITF(E318K) variant
Samantha M Guhan1, Mykyta Artomov2, Shelley McCormick3
1Wellman Center for Photomedicine at Massachusetts General Hospital, Edwards 211, 50 Blossom Street, Boston, MA, 02114, USA.
Scientific Reports
|October 14, 2020
Summary
The MITF(E318K) variant primarily increases cutaneous melanoma risk. This study found minimal evidence for other cancer risks, except for a novel association with uterine carcinosarcoma.
Area of Science:
- Genetics
- Oncology
- Genomic Medicine
Background:
- The MITF(E318K) variant is a known risk factor for cutaneous melanoma.
- Limited data exists on its association with other cancer types.
- Previous studies suggested links to malignancies like renal cell carcinoma, but lacked comprehensive analysis.
Purpose of the Study:
- To systematically review and meta-analyze existing data on MITF(E318K) and cancer risk.
- To characterize the risk of MITF(E318K) for various cancers using whole-exome sequencing data.
- To clarify the role of MITF(E318K) in non-melanoma cancer predisposition.
Main Methods:
- Systematic review and meta-analysis of published literature.
- Whole-exome sequencing (WES) analysis of sporadic cancer samples from The Cancer Genome Atlas (TCGA).
- Analysis of genetically-enriched patient cohorts.
Main Results:
- Minimal evidence supports MITF(E318K) contribution to non-melanoma cancer risk in low-risk individuals (OR 1.168, p=0.454).
- An unexpected significant association was found between MITF(E318K) and uterine carcinosarcoma (OR 9.24, p=0.024).
- Findings suggest prior associations with other malignancies may stem from shared environmental or polygenic factors.
Conclusions:
- The MITF(E318K) variant's primary role is in melanoma risk, with limited evidence for other cancers.
- A novel association with uterine carcinosarcoma warrants further investigation.
- Results may inform updated cancer screening guidelines for individuals carrying the MITF(E318K) variant.
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