Furthermore, we noted that the P02 tumor harbored a highly deleterious frameshift mutation in the sex-determining gene28, DMRT1 (Fig. 4B, Supplementary Fig. 4A–C), and the P03 tumor contained a point mutation in KCTD1 that is linked to Scalp-ear-nipple syndrome29 in which patients often exhibit sex-related aberrations such as underdeveloped or absent nipples, and absent breast tissues (Fig. 4E, Supplementary Figure 4E–G). The gene discussed is DMRT1; the disease is neoplasm.