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Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and

R L Margraf¹, J D Durtschi, J E Stephens

¹Research & Development, ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA.

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Researchers discovered novel genetic variations in the RET proto-oncogene using next-generation sequencing (NGS) in individuals without multiple endocrine neoplasia type 2 (MEN2). These findings contribute valuable data to the RET MEN2 database for future research.

Area of Science:

Genetics
Oncology
Molecular Biology

Background:

The RET proto-oncogene is implicated in various cancers, including multiple endocrine neoplasia type 2 (MEN2).
Identifying sequence variations in unaffected individuals is crucial for understanding RET's role and distinguishing benign from pathogenic variants.

Purpose of the Study:

To discover novel RET proto-oncogene sequence variations in a cohort unassociated with MEN2.
To establish a baseline of RET variants in an ethnically diverse, unaffected population.

Main Methods:

Multisample, nonindexed pooling of DNA samples followed by next-generation sequencing (NGS).
Amplification of RET introns 9-16 from 136 individuals (113 Caucasian, 23 other ethnicities).
Validation of detected variants using high-resolution melting analysis and Sanger sequencing.

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Main Results:

Sixty-one unique variants were detected in the unaffected cohort, with 20 being novel changes.
All 59 previously identified variants in a 50-sample control pool were successfully detected.
Allelic frequencies from NGS correlated well with validation methods.

Conclusions:

Next-generation sequencing with pooled samples is an effective method for discovering RET variants in large cohorts.
The identified variants provide a valuable dataset for the RET MEN2 database, aiding in variant interpretation and genetic counseling.