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

Primary Purpose

Head and Neck Cancer

Status

Completed

Phase

Locations

United States

Study Type

Observational

Intervention

gene expression analysis

mutation analysis

polymerase chain reaction

polymorphism analysis

flow cytometry

laboratory biomarker analysis

About this trial

This is an observational trial for Head and Neck Cancer focused on measuring 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, 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

Eligibility Criteria

18 Years - 120 Years (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

Vanderbilt-Ingram Cancer Center - Cool Springs
Vanderbilt-Ingram Cancer Center at Franklin
Vanderbilt-Ingram Cancer Center

Outcomes

Primary Outcome Measures

Incidence of INK4a-p16 germline mutations

Biologic activity of identified INK4a-p16 germline mutations

Secondary Outcome Measures

Full Information

NCT ID

NCT00482872

First Posted

June 4, 2007

Last Updated

March 10, 2017

Sponsor

Vanderbilt University Medical Center

Collaborators

National Cancer Institute (NCI)

1. Study Identification

Unique Protocol Identification Number

NCT00482872

Brief Title

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

Official Title

Familial HNSCC Syndrome and p16 Germline Mutations

Study Type

Observational

2. Study Status

Record Verification Date

March 2017

Overall Recruitment Status

Completed

Study Start Date

March 2004 (Actual)

Primary Completion Date

July 2012 (Actual)

Study Completion Date

July 2012 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

Vanderbilt University Medical Center

Collaborators

National Cancer Institute (NCI)

4. Oversight

Studies a U.S. FDA-regulated Drug Product

Studies a U.S. FDA-regulated Device Product

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

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, 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

7. Study Design

Enrollment

400 (Anticipated)

8. Arms, Groups, and Interventions

Intervention Type

Genetic

Intervention Name(s)

gene expression analysis

Intervention Type

Genetic

Intervention Name(s)

mutation analysis

Intervention Type

Genetic

Intervention Name(s)

polymerase chain reaction

Intervention Type

Genetic

Intervention Name(s)

polymorphism analysis

Intervention Type

Other

Intervention Name(s)

flow cytometry

Intervention Type

Other

Intervention Name(s)

laboratory biomarker analysis

Primary Outcome Measure Information:

Title

Incidence of INK4a-p16 germline mutations

Title

Biologic activity of identified INK4a-p16 germline mutations

10. Eligibility

Sex

All

Minimum Age & Unit of Time

18 Years

Maximum Age & Unit of Time

120 Years

Accepts Healthy Volunteers

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

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

Wendell G. Yarbrough, MD, FACS

Organizational Affiliation

Vanderbilt-Ingram Cancer Center

Official's Role

Study Chair

Facility Information:

Facility Name

Vanderbilt-Ingram Cancer Center - Cool Springs

City

Nashville

State/Province

Tennessee

ZIP/Postal Code

37064

Country

United States

Facility Name

Vanderbilt-Ingram Cancer Center at Franklin

City

Nashville

State/Province

Tennessee

ZIP/Postal Code

37064

Country

United States

Facility Name

Vanderbilt-Ingram Cancer Center

City

Nashville

State/Province

Tennessee

ZIP/Postal Code

37232-6838

Country

United States

12. IPD Sharing Statement

Learn more about this trial

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

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