The function of MCPH1/BRIT1 as a breast cancer susceptibility gene was supported by another study in which a recurrent heterozygous MCPH1/BRIT1 mutation c.904_916del was identified in 3.4% (5/145) familial and 1.4% (16/1150) sporadic breast cancer cases (46). Here, MCPH1 is linked to breast carcinoma.