García-Simón Natalia, Valentín Fátima, Romero Atocha
Hereditary Cancer Unit, Medical Oncology Department, Puerta de Hierro University Hospital, Majadahonda, 28222, Madrid, Spain.
Gastroenterology Department, Biomedical Research Institute (IDIPHISA), Puerta de Hierro University Hospital, Majadahonda, 28222, Madrid, Spain.
Clin Transl Oncol. 2025 Jan 10. doi: 10.1007/s12094-024-03825-6.
Hereditary polyposis syndromes are significant contributors to colorectal cancer (CRC). These syndromes are characterized by the development of various types and numbers of polyps, distinct inheritance patterns, and extracolonic manifestations. This review explores these syndromes with a focus on their genetic characteristics. Advances in diagnostics, particularly the identification of pathogenic germline variants through massive sequencing technologies, have enhanced our understanding of the genetic alterations associated with polyp formation and CRC risk. Identifying pathogenic variants beyond traditional diagnostic criteria improves the management and surveillance of these syndromes. Genetic diagnosis not only refines patient treatment and surveillance, but also informs relatives of potential risks, enabling appropriate management. However, challenges persist in determining the pathogenicity of newly discovered mutations due to their low prevalence. This review covers hereditary polyposis syndromes, from well-established to newly recognized types, providing insights into their genetic landscapes and highlighting the need for tailored surveillance based on genotype.
遗传性息肉病综合征是结直肠癌（CRC）的重要病因。这些综合征的特征是出现各种类型和数量的息肉、独特的遗传模式以及肠外表现。本综述探讨这些综合征，重点关注其遗传特征。诊断方面的进展，特别是通过大规模测序技术鉴定致病的种系变异，增进了我们对与息肉形成和CRC风险相关的基因改变的理解。识别超出传统诊断标准的致病变异可改善这些综合征的管理和监测。基因诊断不仅能优化患者的治疗和监测，还能告知亲属潜在风险，从而实现适当管理。然而，由于新发现突变的发生率较低，在确定其致病性方面仍存在挑战。本综述涵盖了从已明确的到新认识的各种遗传性息肉病综合征，深入探讨了它们的遗传图谱，并强调了基于基因型进行个性化监测的必要性。
