Certain cytogenetic and molecular abnormalities detected in tumor cells may also provide clues as to an underlying germline predisposition, including (i) the presence of two mutations within a gene known to confer inherited risk, such as RUNX1 or CEBPA, one of which is actually a germline mutation; (ii) the presence of monosomy 7, which may suggest a deleterious germline variant in SAMD9/SAMD9L or GATA2; or (iii) a hypermutator tumor phenotype, which may indicate a germline alteration in a mismatch repair gene (16) or MBD4 (17, 18). This evidence concerns the gene SAMD9L and neoplasm.