Extended Data Fig. 6: TA-UC validation cohorts.

(a, d, f) Time course plots for patients in the TAMARISK validation cohort (a), the clinical gene panel sequencing cohort (d), and the clinical whole-exome sequencing (WES) validation cohort (f), showing duration of tamoxifen (TA) treatment (colored bars) and periods of uterine cancer (UC) diagnosis (diagn., gray bars). (b) Integrated plot of PIK3CA and ESR1 hotspot mutations in TA-UC (TAMARISK validation cohort), detected by droplet digital PCR (ddPCR; red; variant allelic fraction [VAF, %] shown); each column represents one tumor (NA, not available). (c, g) CONSORT flow diagrams showing patient allocation (BC, breast cancer; CxCa, cervical cancer; HRD, homologous recombination deficiency; met, metastatic; OvCa, ovarian cancer; synchr, synchronous; UC, uterine cancer; yrs, years) for clinical gene panel sequencing at Dana-Farber Cancer Institute (DFCI; c) and clinical whole-exome sequencing (WES; g). (e, h) Bar plots showing frequencies of histological uterine cancer (UC) types (endom, endometrial) in patients with and without history of tamoxifen (TA) from clinical gene panel sequencing (e) and clinical whole-exome sequencing (WES) compared to SEER9 data (h); error bars reflect the standard deviation from the β-distribution; numbers in/above bars indicate tumor count per group; significance analysis by two-sided Fisher’s exact test with Monte Carlo Benjamini-Hochberg procedure. (i) Bar plot of clinical (clin) whole-exome sequencing (WES) data from patients with de novo UC (endom, endometrial); bars show PIK3CA and PIK3R1 mutation frequencies, grouped by histological subtype; numbers in/above bars indicate number of mutated samples (before the slash) and total number of samples in that subtype (after the slash); error bars reflect the standard deviation from the β-distributions. (j) Bar plot of clinical WES data from breast cancer patients with and without history of tamoxifen (TA); bars show mutation frequencies; error bars reflect the standard deviation from the β-distribution; numbers in bars indicate mutated tumor count per group. Significance analysis by two-sided Fisher’s exact test.