Germline Mutations in Patients With Head and Neck Cancer and a Family History of Cancer

Head and Neck Cancer Clinical Trial

Official title:

Familial HNSCC Syndrome and p16 Germline Mutations

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00482872
• Other study ID #: CDR0000546713
• Secondary ID: P30CA068485VU-VI
• Status: Completed
• Phase: N/A
• First received: June 4, 2007
• Last updated: March 10, 2017
• Start date: March 2004
• Est. completion date: July 2012

Study information

• Verified date: March 2017
• Source: Vanderbilt University Medical Center
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

RATIONALE: Studying gene mutations in samples of DNA from patients with head and neck cancer and a family history of cancer may help doctors learn more about the development of cancer in families.

PURPOSE: This clinical trial is studying germline mutations in patients with head and neck cancer and a family history of cancer.

Description:

OBJECTIVES:

• Measure the incidence of p16^INK4a germline mutations in patients with squamous cell carcinoma of the head and neck and a family history of cancer.

• Determine biologic activity of identified p16^INK4a germline mutations.

OUTLINE: DNA specimens are collected for genetic and mutation analysis and examined by PCR and flow cytometry. The activity of cells with p16 mutations is determined by cell cycle arrest functional assay.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 400
• Est. completion date: July 2012
• Est. primary completion date: July 2012
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 120 Years

Eligibility

DISEASE CHARACTERISTICS:

• Diagnosis of squamous cell carcinoma (SCC) of the head and neck

• Must have = 1 first-degree relative with any of the following cancers:

• Non-small cell lung cancer

• Melanoma

• Pancreatic cancer

• SCC of the head and neck

• Lymphoma (controls)

PATIENT CHARACTERISTICS:

• Not specified

PRIOR CONCURRENT THERAPY:

• Not specified

Related Conditions & MeSH terms

• Head and Neck Cancer
• Head and Neck Neoplasms

Intervention

Genetic:
• gene expression analysis

• mutation analysis

• polymerase chain reaction

• polymorphism analysis

Other:
• flow cytometry

• laboratory biomarker analysis

Locations

Country	Name	City	State
United States	Vanderbilt-Ingram Cancer Center	Nashville	Tennessee
United States	Vanderbilt-Ingram Cancer Center - Cool Springs	Nashville	Tennessee
United States	Vanderbilt-Ingram Cancer Center at Franklin	Nashville	Tennessee

Sponsors (2)

Lead Sponsor	Collaborator
Vanderbilt University Medical Center	National Cancer Institute (NCI)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Incidence of INK4a-p16 germline mutations
Primary	Biologic activity of identified INK4a-p16 germline mutations