Figure 2.

Likelihood ratio in favour of causality for different genotyping patterns. a. Pedigree with BRCA2 mutation c.3269del. Individuals are numbered 1–13 for identification and underneath the age at last contact is listed. Open circle: female, open square: male, /: deceased, closed circle: affected with breast (or ovarian) cancer at age × (BrCx). In case of bilateral breast cancer this is listed below the first occurrence. Unless specified by + (carrier of UV), - (no carrier), individuals are not genotyped. Proband is indicated by arrow. b. Likelihood ratios in favour of causality if only a subset of the family members are genotyped and in different combinations. ¹The number of family members that is genotyped positive for the mutation, in addition to the proband, individual 13, who carries the BRCA2 mutation c.3269del mutation. ²Family member number in pedigree. ³Likelihood ratio in favour of causality when individual 13 and 1 carry the mutation.