Cancer and Ataxia-Telangiectasia Families

Cancer risks among family members of patients with ataxia-telangiectasia

Several international, population-based studies of relatives of children with Ataxia-Telangiectasia (A-T), a rare neurologic degenerative disease, have reported an increased risk of breast cancer in mothers of A-T patients. The population-based study of A-T families in 4 Nordic countries continued to find an increased risk of breast cancer among female relatives, especially for mothers diagnosed under age 55 years, but no consistent increase in risk with increasing carrier probability among the other female relatives. An international collaboration was formed to pool epidemiologic and mutation data from three large international, population-based studies of A-T families from the Nordic countries, the United Kingdom, and France to increase the statistical power to answer investigate whether an ATM mutation may function as a breast cancer susceptibility gene for breast cancer. Combined analyses are in progress.