Fig. 2: Validation of clinicopathological and genomic risk factors via targeted deep sequencing.
From: Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast
a The clinical information included age; percentages of estrogen receptor (ER)−, progesterone receptor (PgR)−, and MIB1-positive cells according to immunohistochemistry (IHC); human epidermal growth factor receptor 2 (HER2) expression status; and relapse status. Patients were subdivided into molecular phenotypes using IHC surrogates (luminal A [ER−/PR+/HER2−], luminal B [ER+/PR+/HER2+ or ER+/PR+/HER2−/MIB1 index high], HER2 [in figure, shown as H; ER−/PR−/HER2+], and TN [ER−/PR−/HER2−]). Clinical risk estimated by age and HER2 expression status is shown. b GATA3 and PIK3CA mutations are shown (red and blue, respectively). Only the results for nonsynonymous mutations are presented. In total, 40 of 72 (56%) patients carried nonsynonymous GATA3 mutations. Nonsynonymous PIK3CA mutations were detected in 36 of 72 (50%) patients. c The genes that overlapped among patients in the discovery cohort are shown. *1: GATA3 mutation-positive ductal carcinoma in situ (DCIS). *2: GATA3 mutation-negative, ER-positive DCIS with low PgR expression. *3: PIK3CA mutation-positive DCIS that does not satisfy *1 or *2.
