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Yeast As a Chassis for Developing Functional Assays to Study Human P53
Published on: August 4, 2019
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NOP53 as A Candidate Modifier Locus for Familial Non-Medullary Thyroid Cancer.
Aida Orois1, Sudheer K Gara2, Mireia Mora1,3
1Department of Endocrinology and Nutrition, ICMDM, Hospital Clinic, 08036 Barcelona, Spain.
Genes
|November 10, 2019
Summary
Researchers identified a low-penetrant NOP53 gene variant associated with nonsyndromic familial non-medullary thyroid cancer (FNMTC). This finding suggests NOP53 may act as a modifier gene in FNMTC development.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Nonsyndromic familial non-medullary thyroid cancer (FNMTC) accounts for 3-9% of thyroid cancers.
- The genetic basis for FNMTC susceptibility remains largely unknown.
Purpose of the Study:
- To identify candidate susceptibility genes for nonsyndromic FNMTC.
- To analyze families with a history of FNMTC.
Main Methods:
- Exome sequencing was performed on DNA from affected individuals in one kindred.
- Candidate variants were validated using Sanger sequencing in 44 additional FNMTC families and 100 controls.
- Functional studies and immunohistochemistry were conducted on thyroid cancer cell lines and tumor samples.
Main Results:
- A germline variant, p.Asp31His in the NOP53 gene (rs78530808), was identified in affected members of three FNMTC families.
- This variant was absent in unaffected family members and present in 1.8% of the control population.
- Functional studies indicated an oncogenic role for NOP53, with increased protein expression in tumors from affected individuals.
Conclusions:
- NOP53 is likely a low-penetrant gene implicated in FNMTC, potentially acting as a genetic modifier rather than a causative gene.
- The identified NOP53 variant's relatively high frequency suggests a role in modulating thyroid cancer risk within families.
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