title: Segregation analysis of squamous cell carcinoma of the head and neck: evidence for a major gene determining risk.
abstract: We and others have shown that a family history of squamous cell carcinoma of the head and neck (SCCHN) is a risk factor for this disease. We performed a segregation analysis on a dataset comprised of 1429 first-degree relatives of 242 unselected cases of SCCHN and 934 first-degree relatives of 156 spouse controls. Using the SAGE software, we demonstrated that a Mendelian model was favored and a model postulating a purely environmental cause of SCCHN was rejected. The model suggests that 18% of the population who smoke and drink are susceptible. The lifetime risk for non-smokers and non-drinkers who are heterozygotes for the susceptible allele is close to zero, but for those heterozygotes who smoke and drink the risk is 14% by age 70. These findings suggest that specific genetic factors account for a significant fraction of the risk of SCCHN associated with a family history of SCCHN.
authors.affiliation: Department of Epidemiology, UT-MD Anderson Cancer Center, Houston, Texas, USA.
authors.forename: M
authors.initials: M
authors.lastname: de Andrade
authors.forename: C I
authors.initials: CI
authors.lastname: Amos
authors.forename: W D
authors.initials: WD
authors.lastname: Foulkes
mesh_terms: D000428:Alcohol Drinking; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D015233:Models, Statistical; D012307:Risk Factors; D012907:Smoking