Figure 1

Pedigree of the P28031 family, whose index case carried a Q775X mutation. The proband was diagnosed with breast cancer at age 54. She has female relatives on both sides of the family who have been diagnosed with breast cancer (n = 2 on paternal side, n = 4 on maternal side), and the mutation was shown to segregate on the maternal side, with a 46-year-old affected cousin also found to be a carrier. Remarkably, there appear to be five relatives, including her mother, who have been diagnosed with colorectal cancer. Plus sign indicates Q775X mutation carrier. PSU, primary site unknown.