Germline Mutations in Patients With Head and Neck Cancer and a Family History of Cancer
Official Title
Familial HNSCC Syndrome and p16 Germline Mutations
Acronym
Not provided
Organization
Vanderbilt University Medical CenterOTHER
Status Module
Record Verification Date
Mar 2017
Overall Recruitment Status or Expanded Access Status
Completed
Last Known Status
Not provided
Delayed Posting
Not provided
Why Stopped
Not provided
Expanded Access Info
No
Start Date
Mar 2004Actual
Primary Completion Date
Jul 2012Actual
Completion Date
Jul 2012Actual
First Submitted Date
Jun 4, 2007
First Submission Date that Met QC Criteria
Jun 4, 2007
First Posted Date
Jun 5, 2007Estimated
Results Waived
Not provided
Results First Submitted Date
Not provided
Results First Submitted that Met QC Criteria
Not provided
Results First Posted Date
Not provided
Certification/Extension (aka Delayed Results) First Submitted Date
Not provided
Certification/Extension First Submitted that Passed QC Review
Not provided
Certification/Extension First Posted Date
Not provided
Last Update Submitted Date
Mar 10, 2017
Last Update Posted Date
Mar 14, 2017Actual
Sponsor/Collaborators Module
Responsible Party, by Official Title
Sponsor
Lead Sponsor
Vanderbilt University Medical CenterOTHER
Collaborators
Name
Class
National Cancer Institute (NCI)
NIH
Oversight Module
Has Data Monitoring Committee (DMC)
Not provided
Is FDA Regulated Drug
No
Is FDA Regulated Device
No
Is Unapproved Device
Not provided
Pediatric Postmarket Surveillance of a Device Product
Not provided
Product Exported from US
Not provided
FDAAA801 Violation
Not provided
Description Module
Brief 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.
Detailed 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.
Conditions Module
Conditions
Head and Neck Cancer
Keywords
stage I squamous cell carcinoma of the hypopharynx
stage II squamous cell carcinoma of the hypopharynx
stage III squamous cell carcinoma of the hypopharynx
stage IV squamous cell carcinoma of the hypopharynx
recurrent squamous cell carcinoma of the hypopharynx
stage I squamous cell carcinoma of the larynx
stage II squamous cell carcinoma of the larynx
stage III squamous cell carcinoma of the larynx
stage IV squamous cell carcinoma of the larynx
recurrent squamous cell carcinoma of the larynx
stage I squamous cell carcinoma of the lip and oral cavity
stage II squamous cell carcinoma of the lip and oral cavity
stage III squamous cell carcinoma of the lip and oral cavity
Design Module
Study Type
Observational
Number of References to an Expanded Access Study
Not provided
Expanded Access Types
Not provided
Patient Registry
Not provided
Target Follow-Up Duration
Not provided
Phases
Not provided
Interventional Study Design
No data available
No data is available for this block.
Biospecimen
No data available
No data is available for this block.
Enrollment
400Estimated
Arms/Interventions Module
Arm Groups
Not provided
Interventions
Name
Type
Description
Arm Group Labels
Other Names
gene expression analysis
Genetic
mutation analysis
Genetic
polymerase chain reaction
Genetic
polymorphism analysis
Genetic
flow cytometry
Other
laboratory biomarker analysis
Other
Outcomes Module
Primary Outcomes
Measure
Description
Time Frame
Incidence of INK4a-p16 germline mutations
Biologic activity of identified INK4a-p16 germline mutations
Secondary Outcomes
Not provided
Other Outcomes
Not provided
Eligibility Module
Eligibility Criteria
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
Accepts Healthy Volunteers
No
Sex
All
Sex/Gender Based
Not provided
Sex/Gender Description
Not provided
Minimum Age
18 Years
Maximum Age
120 Years
Standard Ages
AdultOlder Adult
Study Population
Not provided
Sampling Method
Not provided
Contacts/Locations Module
Central Contacts
Not provided
Overall Officials
Name
Affiliation
Role
Wendell G. Yarbrough, MD, FACS
Vanderbilt-Ingram Cancer Center
Study Chair
Locations
Facility
Status
City
State
ZIP
Country
Contacts
Vanderbilt-Ingram Cancer Center - Cool Springs
Nashville
Tennessee
37064
United States
Vanderbilt-Ingram Cancer Center at Franklin
References Module
No data available
No data is available for this block.
IPD Sharing Statement Module
No data available
No data is available for this block.
Results Section
No data available
No data is available for this block.
Annotation Section
No data available
No data is available for this block.
Document Section
No data available
No data is available for this block.
Derived Section
Miscellaneous Info Module
Version Holder
Jul 10, 2026
Removed Countries
Not provided
Submission Tracking
No data available
No data is available for this block.
Condition Browse Module
MeSH Terms
Intervention Browse Module
MeSH Terms
stage IV squamous cell carcinoma of the lip and oral cavity
recurrent squamous cell carcinoma of the lip and oral cavity
metastatic squamous neck cancer with occult primary squamous cell carcinoma
recurrent metastatic squamous neck cancer with occult primary
untreated metastatic squamous neck cancer with occult primary
stage I squamous cell carcinoma of the nasopharynx
stage II squamous cell carcinoma of the nasopharynx
stage III squamous cell carcinoma of the nasopharynx
stage IV squamous cell carcinoma of the nasopharynx
recurrent squamous cell carcinoma of the nasopharynx
stage I squamous cell carcinoma of the oropharynx
stage II squamous cell carcinoma of the oropharynx
stage III squamous cell carcinoma of the oropharynx
stage IV squamous cell carcinoma of the oropharynx
stage I squamous cell carcinoma of the paranasal sinus and nasal cavity
stage II squamous cell carcinoma of the paranasal sinus and nasal cavity
stage III squamous cell carcinoma of the paranasal sinus and nasal cavity
stage IV squamous cell carcinoma of the paranasal sinus and nasal cavity
recurrent squamous cell carcinoma of the paranasal sinus and nasal cavity
salivary gland squamous cell carcinoma
recurrent verrucous carcinoma of the larynx
recurrent verrucous carcinoma of the oral cavity
stage I verrucous carcinoma of the larynx
stage I verrucous carcinoma of the oral cavity
stage II verrucous carcinoma of the larynx
stage II verrucous carcinoma of the oral cavity
stage III verrucous carcinoma of the larynx
stage III verrucous carcinoma of the oral cavity
stage IV verrucous carcinoma of the larynx
stage IV verrucous carcinoma of the oral cavity
recurrent squamous cell carcinoma of the oropharynx