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

Familial HNSCC Syndrome and p16 Germline Mutations

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00482872

Enrollment

400

Registered

2007-06-05

Start date

2004-03-31

Completion date

2012-07-31

Last updated

2017-03-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

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

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.

Interventions

GENETICgene expression analysis

GENETICmutation analysis

GENETICpolymerase chain reaction

GENETICpolymorphism analysis

OTHERflow cytometry

OTHERlaboratory biomarker analysis

Eligibility

Sex/Gender

ALL

Age

18 Years to 120 Years

Healthy volunteers

Inclusion 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

Design outcomes

Primary

Measure	Time frame
Incidence of INK4a-p16 germline mutations	—
Biologic activity of identified INK4a-p16 germline mutations	—

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026