Fig. 1: Pedigrees of the MLH1 epimutation cases showing that the presence of the epimutation does not co-segregate with any genetic allele.
From: Primary constitutional MLH1 epimutations: a focal epigenetic event
Circles, females; squares, males; filled, cancer affected. Cancer localization (CRC, colorectal cancer; OC, ovarian cancer; EC, endometrial cancer; BC, breast cancer; Lk, leukaemia; BrC, brain cancer; PC, prostate cancer) and age at diagnosis are indicated. Epimutation carriers are indicated by an arrow. Generations are indicated on the left margin in Roman numerals and analysed relatives are identified by numbers. Haplotypes are schematised by sticks: Red = methylation-associated allele (MAA), Black = haplotype also carried by the proband but not associated with the epimutation, Blue = un-informative haplotypes. The presence of methylation (M) or its absence (UM) is indicated on the red MAA haplotypes for those individuals tested)
