In humans, besides its association with HS (Hennekam et al., 1989; Van Balkom et al., 2002; Alders et al., 2009; Connell et al., 2010; Connell et al., 2012; Alders et al., 2013; Shah et al., 2013), CCBE1 has also been described as relevant protein in several types of cancer such as ovarian, breast and colorectal cancer, as well as gastrointestinal stromal tumor (GIST) and tumor lymphangiogenesis (Barton et al., 2010; Tian et al., 2016; Mesci et al., 2017; Zhao et al., 2018; Song et al., 2020). Here, CCBE1 is linked to neoplasm.