Some of these findings, such as second hits in ATM and BLM in CRC patients, were supportive of previously suggested cancer associations.44,45 A second hit in BRCA2 was also observed in a patient with ovarian cancer, however, further analysis revealed that the germline variant, c.7069_7070del, p.Leu2357Valfs*2, and the somatic variant, c.7065del, p.Glu2355Aspfs*12, were located on the same allele, thus, the somatic variant would be expected to restore the interrupted reading frame (resulting in p.Glu2355_Phe2356delinsAsp) reversing the pathogenicity of the germline variant. Here, BLM is linked to colorectal carcinoma.