Fig 1.
The cancer types and age at onset in the individuals with multiple independent primary cancers.
A) Pie chart showing the frequency of cancer types in the total series of individuals with multiple independent primary cancer. All individuals were ascertained in Australia and were selected from those collected as part of the Q-MEGA project, a Queensland population-based study investigating the genetics of melanoma development; all individuals therefore presented with a history of cutaneous melanoma (CM) and are not represented in this figure. B) Age of onset for each of the cancers present in the multiple cancer patients. The dotted line at 60 years of age shows that the majority of cancers developed later in life. CRC: Colorectal cancer; UM: Uveal melanoma; SCC: Head and Neck Squamous Cell Carcinoma.
Fig 2.
Cumulative percentage plots of variant burdens.
The numbers of variants present at a frequency of <1:2000 in Kaviar in each of the gene classification lists (‘cancer’ genes and DNA repair genes) were calculated for each individual in the multiple cancer patients and the UK10K controls. The cumulative percentage of individuals with a given ‘burden’ of variants was then calculated and plotted for each cohort. A) The cumulative percentage plots of variant burden for all ‘cancer’ genes in the multiple cancer cases (blue) compared to the UK10K controls (red). B) The cumulative percentage plots of variant burden for DNA repair genes in the multiple cancer cases (blue) compared to the UK10K controls (red).