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PMID: 41728249 已发表 · epublish 英语

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

ACG case reports journal ·第 13 卷 ·第 2 期 ·2026-02-00

Patel R, Kumar G, Shah Y, Singh Dahiya D, Inamdar S

摘要

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.

关键词
BRCA 2 mutation BRCA1 mutation KRAS mutation PARP inhibitor POLE mutation colorectal cancer early-onset CRC high tumor mutational burden immune checkpoint inhibitor microsatellite stable next-generation sequencing right-sided colon adenocarcinoma
文献信息
期刊
ACG case reports journal
期刊简称
ACG Case Rep J
ISSN
2326-3253
发表日期
2026-02-00
语言
英语
国家/地区
United States
NLM ID
101638398
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