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Division of Human Genetics : Department of Internal Medicine : College of Medicine : The Ohio State University
http://internalmedicine.osu.edu/cardiovascular//genetics/952.cfm

 
Active Research Protocols
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Active Research Protocols
American Founder Mutation Study

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Active Research Protocols

You, your family or your patient may be eligible for one or more of these protocols. To speak with one of our counselors, please e-mail them or call (614) 293-6694 or toll-free 1-888-329-1654, Monday through Friday, 8 a.m. - 5 p.m. EST.

General Study & Clinical Testing Consents & Forms
 ·   Family Member Consent for Contact
 ·  Medical Records Release Form
 ·   Ohio State University Molecular Pathology Test Requisition

 

Number

Title

Eligibility Criteria

Study Coordinator

07088 The Columbus Breast Tissue Bank Women with invasive breast cancer diagnosed in Columbus, Ohio. Rob Pilarski
07014 Genetic modifiers of Breast & Ovarian Cancer Risk Please contact Kevin Sweet for details.
·   Modifier Study Consent
·   Modifier Study HIPAA
Kevin Sweet

05082

Variants in High Risk Breast Cancer Genes and Contribution to Cancer Risk.

Please contact Kevin Sweet for details.
·  Variant Study Consent
·  Variant Study HIPAA

Kevin Sweet

0107

Prospective cohort study on BRCA1 and BRCA2 carriers

Please contact Kevin Sweet for details.

Kevin Sweet

06032 The Endocrine Neoplasia Repository Any individual with thyroid cancer or benign thyroid disease being treated at The Ohio State University Medical Center/ James Cancer Hospital. Rebecca Nagy

9812

Strategy to search for genes predisposing to papillary carcinoma of the thyroid when mutated.

At least two cases of papillary thyroid cancer (PTC) in close relatives.

Rebecca Nagy

06036 The Genetics of Hereditary Uveal Melanoma.

Patients with a current or past diagnosis of uveal (eye) melanoma.
·  Uveal Melanoma Consent
·  Uveal Melanoma HIPAA

Rob Pilarski

05078


Genomic Analysis of Squamous Cell Carcinoma


Please contact Dawn Allain for details.

Dawn Allain

9952

Human Cancer Genetics Sample Banking Protocol

Please contact Leigha Senter for details.

Leigha Senter

 N/A American Founder Mutation Study Aims to describe prevalence of a large genomic deletion encompassing exons 1 to 6 of the MSH2 gene that is widespread in the U.S population as a result of a founder effect. Click here for details on American Founder Mutation (AFM) families and publications.  Heather Hampel
  N/A  Hyperplastic Polyposis Study A cohort study of patients with unusual colon polyp histology (i.e. mixed polyposis) for which we hope to identify and correlate with alterations in known and putative cancer susceptibility gene(s) and pathways of polyp formation. Tumor blocks are requested and reviewed, gene analysis is primarily done through research collaborations.  

Kevin Sweet

06070 Genetics, Molecular Diagnostics, and Mechanisms of Juvenile Cobalamin Deficiency (JCD) Individuals with a known or suspected diagnosis of juvenile cobalamin deficiency (as specified by their clinician), are between the ages of 1 and 99 years and/or are an affected or unaffected relative of an individual diagnosed with juvenile cobalamin deficiency.

·  JCD Study Adult Consent

· JCD Study Minor Assent

·  JCD Study Parental Consent

 ·  JCD Study HIPAA 
Amy Sturm

05090

Storage of biological material for the discovery and characterization of genes involved in hereditary disease predisposition

Determined by the Medical Genetics Program.
·  Genetics Banking Consent
·  Genetics Banking HIPAA Form

Amy Sturm
 N/A Cardiovascular Genetics Data Repository

Males or females who are 18 years of age or older with either:

1) A personal diagnosis of a cardiovascular genetic condition (familial aneurysm, familial cardiomyopathy, familial dysrhythmia, familial hypercholesterolemia, early-onset CAD (males <55 or females <65), etc.) and/or

2) A family history of one of the above conditions or a family history that classifies them as being at increased familial risk for CAD.

· Cardio Repository Consent

·  Cardio Repository HIPAA

· Cardio Questionnaire

Amy Sturm




Department of Internal Medicine http://www.internalmedicine.osu.edu

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Department of Internal Medicine | Division of Human Genetics
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