Fig. 2: Description of the twenty patients included in the study and of the ctDNA detection status of their liquid biopsies.

A Survival data for each patient: time from initial breast cancer diagnosis to first metastasis diagnosis (dark purple) and time between first metastasis diagnosis to patient’s death (light purple). Four patients were de novo metastatic. B Pathological data for the primary breast tumor of each patient. C Tissue sample distribution for each patient, considering all timepoints of collection. Total number of tissue samples per patient is reported on top of each bar. D Left panel: ctDNA detection status, based on lpWGS, for each liquid biopsy at the different timepoint of collection. If multiple samples were taken from the same liquid biopsy at the same timepoint, ctDNA was considered detected if it was found in at least one of the samples. In the pre-mortem setting blood can be either peripheral or central. Cases where the collection was not performed are indicated in light gray. Samples that did not pass the quality checks are indicated in dark gray. Of note, Pt2002 had a ventriculoperitoneal shunt and the ascites of Pt2025 was caused by portal hypertension. Blood at primary diagnosis was available for Pt2006, Pt2007, Pt2009, Pt2011, Pt2016, Pt2018, Pt2023, all samples passed QC, but none had ctDNA detected. Right panel: bar plot reporting the proportions observed in the collected samples. Top labels indicate the number of cases where ctDNA is detected out of the number of cases where at least one sample passed the QC. Corresponding percentages are also reported. ASC ascites, BL broad ligaments, bonesSpines vertebral bones, CSF cerebrospinal fluid, CT connective tissue, ctDNA circulating tumor DNA, Dx diagnosis, ER estrogen receptor, HER2 human epithelial growth receptor 2, IBC-NST invasive breast carcinoma of nonspecial type, ILC invasive lobular carcinoma, LN lymph node, lpWGS low-pass whole genome sequencing, Met metastatic, MSCC metaplastic squamous cell carcinoma, PeriC pericardial fluid, periph peripheral, PFL pleural fluid, PR progesterone receptor, QC quality check, Sintestine small intestine, ST soft tissue, URN urine.