Inheritance of Osteosarcoma & Paget's Disease Through Chromosome 18:

Inheritance of Osteosarcoma & Paget's Disease Through Chromosome 18: Examination of Osteosarcoma Tissue Samples From Two Family Members for Loss of Heterozygosity in the Chromosome 18 Region, Genetically Linked With Paget's Disease of Bone

Researchers have previously demonstrated loss of heterozygosity in a region on chromosome 18q, associated with osteogenic sarcomas in bone affected by Paget's disease. The loci used in this study are specifically described by those authors as showing loss of heterozygosity in 6 of 7 affected families.

Study Overview

• Status: Terminated
• Conditions: Osteosarcoma; Paget's Disease

Detailed Description

As above, no additional information

• Study Type: Observational
• Enrollment (Actual): 8

Contacts and Locations

Study Locations

• United States
  • New York
    • Syracuse, New York, United States, 13202
      • Suny Upstate Medical University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

This is a familial study therefore the only inclusion/exclusion criteria would be that subjects must be a blood relative and over the age of 18. The subjects are proband and father along with unaffected blood relatives. Their peripheral blood will act as a control and provide information to delineate the inheritance from the father, as seen in the son.

Description

Inclusion Criteria:

• This is a familial study therefore the only inclusion/exclusion criteria would be that subjects must be a blood relative and over the age of 18.
• The subjects are proband and father along with unaffected blood relatives. Their peripheral blood will act as a control and provide information to delineate the inheritance from the father, as seen in the son.

Exclusion Criteria:

• Not part of the family

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
family members; family members of the proband and father identified

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Loss of heterozygosity	A loss of heterozygosity of a proposed tumor suppressor gene on chromosome 18	January, 2000 through February 2009

Collaborators and Investigators

• Sponsor: State University of New York - Upstate Medical University
• Investigators: Principal Investigator: Timothy A Damron, MD, State University of New York - Upstate Medical University

Study record dates

Study Major Dates

• Study Start: April 1, 2002
• Primary Completion (Actual): December 1, 2009
• Study Completion (Actual): December 1, 2009

Study Registration Dates

• First Submitted: February 1, 2008
• First Submitted That Met QC Criteria: February 13, 2008
• First Posted (Estimate): February 14, 2008

Study Record Updates

• Last Update Posted (Estimate): May 30, 2013
• Last Update Submitted That Met QC Criteria: May 29, 2013
• Last Verified: May 1, 2013

More Information

Terms related to this study

• Keywords: Inheritance of Osteosarcoma & Paget's Disease through Chromosome 18
• Additional Relevant MeSH Terms: Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Bone Tissue; Neoplasms, Connective Tissue; Sarcoma; Osteosarcoma
• Other Study ID Numbers: Osteosarcoma & Paget's Disease; IRB #4168 (Other Identifier: IRB number)