What question did this study set out to answer?

This case examines the implications of triple mutations in BRCA1, BRCA2, and POLE in early-onset colorectal cancer.

February 22, 2026Open Access

Aggressive Right-Sided Colon Cancer in a Young Adult: Triple-Whammy Mutations (POLE, KRAS, BRCA1/2) Highlight Emerging Genetic Associations

Puntos clave

This case examines the implications of triple mutations in BRCA1, BRCA2, and POLE in early-onset colorectal cancer.
Case report of a young male with early-onset colorectal cancer.
Genetic testing for BRCA1, BRCA2, and POLE mutations conducted.
Analysis of the role of mutations in DNA repair and proofreading.
Identified pathogenic variants in BRCA1, BRCA2, and POLE in the patient.
Suggests a hypermutated phenotype due to deficient DNA processes.
Indicates the potential for a new molecular subtype of colorectal cancer.

Resumen

ABSTRACT BRCA mutations are well established in breast and ovarian cancers and increasingly recognized in colorectal cancer (CRC), particularly BRCA1 . Dual BRCA1/2 pathogenic variants in CRC remain exceptionally rare. We report a case of early-onset CRC in a young male harboring pathogenic variants in BRCA1 , BRCA2 , and POLE , with no personal or familial cancer history. This mutational triad suggests convergence of homologous recombination deficiency and impaired DNA proofreading, resulting in a hypermutated phenotype. The case may represent a novel molecular CRC subtype and underscores the importance of broad-panel germline testing in young patients, with implications for poly (ADP‑ribose) polymerase and immune checkpoint inhibitor therapy.

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Cite This Study

Patel et al. (Sun,) studied this question.

synapsesocial.com/papers/699a9d27482488d673cd2efa https://doi.org/https://doi.org/10.14309/crj.0000000000002016

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