,3,4 Subsequently, there have been reports of individuals with CRC carrying a monoallelic MCM8/MCM9 variant,2,3,4 as well as reports describing mono- and biallelic germline MCM8/MCM9 variants in individuals with other nonmalignant pathologies, including short stature (HP:0004322),29,34,35,38,39,34,35,38,39 delayed puberty (HP:0000823),22,23,26,28,33,38,39,40 hypothyroidism (HP:0000821),22,28 and absent or infantile uteri/ovaries.22 The gene discussed is MCM9; the disease is colorectal carcinoma.