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MEN2 RET Database Submission Form

Please fill out this form to submit new RET sequence variation to the MEN2 RET database. This form should also be used to update clinical information or to clarify the phenotype of RET sequence variation already in the database. Submissions will be reviewed before being added to the database and the submitter may be contacted if clarification or additional information is needed. For this reason, valid contact information is required to make a submission. If needed, MEN2 research study participation is available to help classify novel or rare RET sequence changes. Any questions or concerns about the submission process should be emailed to Rebecca Margraf at ARUP.

• Required fields are marked with asterisks (*)
• Point to the icons for additional information
• Abbreviations Help

New sequence variation information

Please use the form below to enter the germline RET sequence variation information. If the patient has more than one sequence change, use the ‘Multiple Sequence Variations’ form.

One sequence variation

Locations (exon/intron #)* Exon Intron 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 Please select an item.

Codon Sequence Change* A value is required. Example: 618(TGC-CGC).

Protein Change* A value is required. Example: C620R.

Genotype (cDNA) Example: c.1900T>A.

     Use the HGVS sequence variation nomenclature to generate the RET genotypes.
List detection methods and exons/mutations investigated*
A value is required.

Clinical Consequences

Patient's age of onset in years *
(If patient was affected, but age of onset is unknown, mark with an ‘X’. If patient was not affected, mark with an 'NA'.)

MTC A value is required.

Metastatic MTC A value is required.

Pheo A value is required.

Hyperparathyroidism A value is required.

Describe any other clinical symptoms here (e.g. C-cell hyperplasia, HSCR, marfanoid body type, neuromas, etc…..)

Family History

Family history* Yes No Unknown Please select an item.	If yes, Family diagnosis MEN2 MTC Pheo Other Unknown type of thyroid cancer
Describe family members (e.g. relationship to patient, RET genotype, clinical symptoms, age of tumor onset, etc…)

Additional Comments

Additional Information

Publication Information

Please include references if accepted or published in peer-reviewed journal.
(If updating a sequence change already in the database, include old reference.)

Contributors

Contact Information

Institution Name* A value is required.
Address
City
State
Country
Postal Code
Phone with Extension*

Please provide a fax number if you are outside the USA.

Example: 555-555-1234 ext. 5555 (include country code if outside the USA) A value is required.
Fax

Phone number will only be used if additional information is needed during the submission process.

Contact Name* A value is required.
Contact Email* A value is required.
Display email address?

Check this box if you want to allow your email address to be displayed along with your contact information for this submission.

Please take a moment to review all fields before clicking the Submit button