Figure 1.

Family pedigree of the epimutation carriers. Circles, females; squares, males; filled, cancer affected; vertical line at center, non-confirmed cancer affected. Cancer localization (CRC, colorectal cancer; OC, ovarian cancer; EC, endometrial cancer; BC, breast cancer; Lk, leukemia) and age at diagnosis are indicated. (a) Pedigree and haplotypes of case 1. The epimutation carrier (II.1) is indicated by an arrow. Generations are indicated on the left margin in Roman numerals and analyzed relatives are identified by numbers. Haplotypes, generated by analyzing SNP and microsatellite markers flanking or within MLH1, are detailed according to the key indicated in individual II.1. The paternally inherited allele in II.1 is in a square and the maternally derived allele is highlighted in dark gray. The presence of methylation (M) or its absence (unM) is indicated. (b) Pedigree of case 34. The epimutation carrier is indicated by an arrow.