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Fig. 5 | Breast Cancer Research

Fig. 5

From: Molecular analyses of triple-negative breast cancer in the young and elderly

Fig. 5

Composite view of molecular and genetic phenotypes versus age at diagnosis in TNBC. a Integrative view of gene expression subtypes (PAM50 basal-like, LAR, IntClust 4, 10), HRD classification, BRCA1, BRCA2, PALB2, RAD51C, MCL1, CCND1, CCNE1, EGFR, PIK3CA, and TP53 alterations, mutational signatures (S1-S26), rearrangement signatures (RS1-RS6), patterns of insertion, and deletions versus age groups stratified by an underlying BRCA1 deficiency, BRCA2 deficiency, and HRDetect classification. BRCA1-null, BRCA2-null, and PALB2-null imply biallelic loss of the gene based on WGS. b Illustration of signature patterns in BRCA1-deficient tumors (light gray) and HRDetect-low/intermediate cases (white) stratified by age for proportion of insertions (left), rearrangement signature 6 (RS6, center), and mutational substitution signature 3 (S3, right, refitted by SigFit). RS6 is characterized by clustered rearrangements typically found in cases with driver amplifications, while S3 is associated with BRCA1/2 deficiency [41]. Top axes indicate group sizes. Top axes indicate group sizes. Two-sided p values are calculated by Kruskal-Wallis test per group. For age group definitions, “[” equals ≥, “)” equals <, and “]” equals ≤ for the value specified next to it

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