C634Y mutation in the RET proto-oncogene in MEN 2A
"Report of Laboratory DNA Study"
Molecular Diagnostic Laboratory - DNA Test
Results
Washington University School of Medicine
Molecular Diagnostic Laboratory
| Division of Laboratory Medicine | Division of Medical Genetics | |
| Departments of Pathology and Medicine | Department of Pediatrics | |
| Report of Laboratory DNA Study | ||
| PATIENT: Mary | Sample Date: 1/30/95 |
Sample: WBC |
| Lab. Accession No: 95-146 | Reason for Study: |
Family History of: MEN2A |
Other Identifying Information: |
Kindred No: MEN.035.0044 |
|
| Laboratory DNA Study Physician: | Samuel A. Wells, Jr., WUSM |
(Patient's Family Physician) |
Ordered by Patient's Physician: |
Francis S. Greenspan, UCSF | (Patient's Physician) |
Study of Mutations in the RET Proto-oncogene
(The sample for this study was collected as part of a Clinical Research Study approved by the Human Subjects Committee of the Washington University School of Medicine. Testing was performed based upon information supplied by the investigator to the laboratory.)
Mutation Detection:
The sample above was studied for the presence of the following
point mutation in the ret protooncogene:
Exon: 11 Mutation: C634Y
The result was as follows:
Mutation Present: Yes
This analysis was performed using PCR amplification of the relevant genomic sequence followed by restriction endonulease digestion as described (Hum.Mol.Gen. 2:851 1993; Nature 363:458 1993).
Comments: This patient is heterozygous for a point mutation in the ret protooncogene which has been implicated in multiple endocrine neoplasia, an autosomal dominant condition. Consultation with a physician experienced in the evaluation and treatment of this condition is recommended. In addition, genetic counseling is recommended.
Personal Notes and Updates:
I had this DNA testing performed at Washington Medical University, Barnes Hospital, through Dr. Samuel Wells. I've also had previous DNA testing performed by military research facilities at OakKnoll, California. I've always tested positive for the genetic illness MEN2A, including Medullary Thyroid Carcinoma (MTC), Parathyroid tumors and Pheochromocytoma. In the side of my family which has this illness, it has never skipped generations, and no relative seems to be completely free of some form of the illness. Most of my family had problems which started at the onset of puberty, and that seems to be our family pattern.
I was tested positive for a Ret Protooncogene, with a mutation at C634Y in Exon 11. This is characteristic for expecting that I will develop a Pheochromocytoma. I've tested positive for the mutation with this DNA test, and positive with three plasma free metanephrine blood tests. My VMA tests have always been negative, damaged, or ruined by laboratory personnel.
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