Clinical trial NCT00482872: 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
Overall status: COMPLETED
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
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
Lead sponsor: Vanderbilt University Medical Center
Sponsor class: OTHER
Collaborators: name: National Cancer Institute (NCI)
First posted: 2007-06-05
Enrollment: 400
Sex: ALL
Minimum age (years): 18
Maximum age (years): 120
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no

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.

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

Primary outcomes:
measure: Incidence of INK4a-p16 germline mutations
measure: Biologic activity of identified INK4a-p16 germline mutations
Secondary outcomes:
Other outcomes:
Locations:
city: Nashville
country: United States
facility: Vanderbilt-Ingram Cancer Center - Cool Springs
state: Tennessee
city: Nashville
country: United States
facility: Vanderbilt-Ingram Cancer Center at Franklin
state: Tennessee
city: Nashville
country: United States
facility: Vanderbilt-Ingram Cancer Center
state: Tennessee
Study officials:
affiliation: Vanderbilt-Ingram Cancer Center
name: Wendell G. Yarbrough, MD, FACS
role: STUDY_CHAIR
References: