American Association for Cancer Research
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Supplementary Figure S3 from Complex Patterns of Genomic Heterogeneity Identified in 42 Tumor Samples and ctDNA of a Pulmonary Atypical Carcinoid Patient

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journal contribution
posted on 2023-04-04, 02:01 authored by Tamsin J. Robb, Peter Tsai, Sandra Fitzgerald, Paula Shields, Pascalene S. Houseman, Rachna Patel, Vicky Fan, Ben Curran, Rexson Tse, Jacklyn Ting, Nicole Kramer, Braden J. Woodhouse, Esther Coats, Polona Le Quesne Stabej, Jane Reeve, Kate Parker, Ben Lawrence, Cherie Blenkiron, Cristin G. Print

Supplementary Figure S3: Mutational signatures across all samples collected at autopsy A, Overall mutational burden does not reveal significant mutational signatures (MuSiCa). The signature contribution is indicated by the degree of shading (key to right). The signature with the highest contribution was Signature 3, however it was not statistically significant in most samples according to tool Signal. B, The scarHRD method for quantifying homologous recombination deficiency did not identify any tumors to be HR-deficient; with all having an HRD-sum score < 20 (known HR-deficient tumors usually have HRD-sums of > 40)28.


Auckland Medical Research Foundation (AMRF)

Translational Medicine Trust



DNA sequencing data from tumor samples and blood plasma from a single patient highlighted the critical early role of chromosomal alterations in atypical carcinoid tumor development. Common tumor variants were readily detected in the blood plasma, unlike emerging tumor variants, which has implications for using ctDNA to capture cancer evolution.