Figure 1

Pedigrees of germline CHEK2 sequence variation families. Square symbols indicate males, round symbols indicate females, line across symbol means deceased individual. Filled symbols indicate affected individuals with diagnosis confirmed by pathology reports. A quarterly filled symbol indicate affected individuals with diagnosis by family history. Tumour type and age at diagnosis of the tumours are indicated below the individual identifiers, d = age of death. The index patient is indicated with an arrow. Abd = abdominal cancer, B = breast cancer, Bl = bladder cancer, Br = brain tumour, C = colorectal cancer, cancer = cancer of unknown origin, DFS = dermatofibrosarcoma, End = endometrial cancer, Ho = Hodgkin lymphoma, Ki = kidney cancer, L = lung cancer, Leu = leukaemia, LMS = Leiomyosarcoma, O = ovarian cancer, Oes = oesophagus carcinoma, OS = osteosarcoma, RMS = rhabdomyosarcoma, Schw = schwannoma, SG = salivary gland cancer, Sk = skin cancer, St = stomach cancer, mut + = mutation detected, mut - = mutation excluded.