Supplementary Figure S4 from Lobular Carcinomas In Situ Display Intralesion Genetic Heterogeneity and Clonal Evolution in the Progression to Invasive Lobular Carcinoma
Year: 2023
Type: supplementary-materials
Abstract: Supplementary Fig. S4: Clonal relatedness between lobular carcinoma in situ (LCIS), invasive lobular carcinoma (ILC), ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (IDC), Shannon and Gini-Simpson Indices measure of intra-lesion genetic heterogeneity, and truncal and branch mutations affecting cancer genes. A) Pairwise comparison of the clonality index between samples based on the presence of synonymous and non-synonymous somatic mutations. The color gradient represents the CI (Clonal Index) of the probability that a given pair of samples is clonally-related based on the number of shared mutations and the frequency of each shared mutation in ILCs breast cancers from The Cancer Genome Atlas breast cancer study (31). B) Barplot showing the proportion of LCIS harboring intra-lesion genetic heterogeneity in the LCIS clonally-related to DCIS/ILC (red bar) and LCIS not clonally-related to DCIS/ILC (gray bar) (p-value = 0.0016, Fisher's exact test). Boxplots illustrating the distribution of the Shannon diversity index (C) and the Gini-Simpson diversity index (D) for each lesion type (LCIS, DICS, ILC and IDC). E-F) Truncal and branch mutations affecting cancer genes as defined by Kandoth et al. (24), the Cancer Gene Census (25) and/ or Lawrence et al. (26). Venn diagrams representing the overlap between genes affected by truncal or branch mutations and cancer genes. Hypergeometric test P-value and representation factors are shown below the respective Venn diagrams.
Authors: Ju Youn Lee, Michail Schizas, Felipe C. Geyer, Pier Selenica, Salvatore Piscuoglio, Rita A. Sakr, Charlotte K.Y. Ng, Jose V. Scarpa Carniello, Russell Towers, Dilip D. Giri, Victor P. de Andrade, Anastasios D. Papanastasiou, Agnes Viale, Reuben S. Harris, David B. Solit, Britta Weigelt, Jorge S. Reis-Filho, Tari A. King
Language: English
Subfield: Cancer Research
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W4361967272