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Brazilian Thyroid WES

Medullary thyroid cancer (MTC) is a rare malignant tumor that arises from parafollicular cells. Approximately 8% of thyroid cancer cases are MTC, and about 25% of these have a hereditary component. Incorporating molecular parameters into tumor classification is important. Besides, the presence of pathogenic germline variants can impact directly on cancer prevention. Thus, the aim of this study was to perform whole exome sequencing (WES) on a consecutive series of hereditary RET wild-type MTC patients to identify genetic variants that may be involved in the carcinogenesis of this tumor. WES was performed on 28 patients negative for germline RET pathogenic variants using the NovaSeq 6000 platform. Variant classification followed American College of Medical Genetics and Genomics guidelines.Our study represents a significant advancement in gene discovery for MTC genetics.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS50000000061 Exome Sequencing

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF50000054570 3.3 GB
EGAF50000054571 3.4 GB
EGAF50000054572 2.3 GB
EGAF50000054573 2.5 GB
EGAF50000054574 4.1 GB
EGAF50000054575 968.5 MB
EGAF50000054576 3.7 GB
EGAF50000054577 2.6 GB
EGAF50000054578 1.3 GB
EGAF50000054579 1.5 GB
EGAF50000054580 1.5 MB
EGAF50000054581 2.2 MB
EGAF50000054582 2.4 MB
EGAF50000054583 639.0 kB
EGAF50000054584 2.7 GB
EGAF50000054585 2.8 GB
EGAF50000054586 2.8 GB
EGAF50000054587 2.9 GB
EGAF50000054588 4.2 GB
EGAF50000054589 4.3 GB
EGAF50000054590 3.0 GB
EGAF50000054591 3.0 GB
EGAF50000054592 2.9 GB
EGAF50000054593 3.1 GB
EGAF50000054594 3.0 GB
EGAF50000054595 3.2 GB
EGAF50000054596 2.9 GB
EGAF50000054597 3.1 GB
EGAF50000054598 3.8 GB
EGAF50000054599 4.0 GB
EGAF50000054600 2.8 GB
EGAF50000054601 3.0 GB
EGAF50000054602 2.7 GB
EGAF50000054603 2.7 GB
EGAF50000054604 3.2 GB
EGAF50000054605 3.2 GB
EGAF50000054606 2.3 GB
EGAF50000054607 2.4 GB
EGAF50000054608 3.9 GB
EGAF50000054609 4.0 GB
EGAF50000054610 3.2 GB
EGAF50000054611 3.3 GB
EGAF50000054612 3.1 GB
EGAF50000054613 3.3 GB
EGAF50000054614 2.9 GB
EGAF50000054615 3.0 GB
EGAF50000054616 2.7 GB
EGAF50000054617 2.8 GB
EGAF50000054618 3.4 GB
EGAF50000054619 3.6 GB
EGAF50000054620 3.5 GB
EGAF50000054621 3.3 GB
EGAF50000054622 2.0 GB
EGAF50000054623 2.2 GB
EGAF50000054624 3.1 GB
EGAF50000054625 3.1 GB
56 Files (155.7 GB)