Jenifer Muñoz

TL;DR: Both POLE mutation and MMR-D were associated with significantly reduced risk of recurrence compared with MMR-P colorectal cancers in multivariable analysis, which underscores the importance of rare biomarkers in precision cancer medicine, but raises important questions about how to identify and implement them in practice.

TL;DR: This study proposes the first set of clinical criteria designed to identify CRC patients with biallelic MYH mutations, and it argues against an increased risk for monoallelic carriers.

TL;DR: New potential colorectal cancer predisposition variants in genes that have a role incancer predisposition and are involved in DNA repair and the cell cycle are identified, which supports their putative involvement in germ-line predisposition to this neoplasm.

TL;DR: Loss of MSH6 expression is the predominant cause of MMR deficiency in early-onset CRC and should be included in the genetic counseling of patients and their relatives, according to the findings.

TL;DR: A proof-of-concept that gene promoter methylation is associated with tumor multiplicity is provided, which may have noteworthy implications in the prevention of patients with sporadic CRC.