Pallatt Sneha, Nambidi Sibin, Adhikary Subhamay, Banerjee Antara, Pathak Surajit, Duttaroy Asim K
Medical Biotechnology Lab, Faculty of Allied Health Sciences, Chettinad Academy of Research and Education (CARE), Chettinad Hospital and Research Institute (CHRI), Chennai, India.
Department of Nutrition, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, Oslo, Norway.
Oncol Rev. 2025 May 16;19:1549416. doi: 10.3389/or.2025.1549416. eCollection 2025.
Lynch syndrome (LS) is an autosomal dominant disorder caused by germline mutations in DNA mismatch repair (MMR) genes. These mutations result in frameshift alterations, leading to the accumulation of errors within microsatellites. Individuals with LS have an elevated risk of developing colorectal and distant malignancies, including endometrial cancer (EC), which is one of the most common cancer associated with LS. Despite its significance, the association between EC and LS is often underexplored. Given the slow progression of colorectal cancer (CRC), there is an opportunity for early detection and intervention, which can aid in reducing both incidence and mortality through the identification and management of pre-malignant lesions and early-stage tumors in colorectum/endometrium. Recognizing individuals with a heightened risk of CRC is essential for implementing personalized screening strategies. This review summarizes the original research work on LS to find out the correlation of CRC following an endometrial cancer diagnosis in individuals with MMR gene mutations, may involve refine treatment strategies and moreover this review may help clinicians and researchers to get an up-to date information on LS and its advanced treatment possibilities.
林奇综合征(LS)是一种常染色体显性疾病,由DNA错配修复(MMR)基因的种系突变引起。这些突变导致移码改变,进而导致微卫星内错误的积累。患有LS的个体患结直肠癌和远处恶性肿瘤的风险升高,包括子宫内膜癌(EC),这是与LS相关的最常见癌症之一。尽管其具有重要意义,但EC与LS之间的关联常常未得到充分研究。鉴于结直肠癌(CRC)进展缓慢,存在早期检测和干预的机会,这有助于通过识别和管理结直肠/子宫内膜的癌前病变和早期肿瘤来降低发病率和死亡率。识别具有较高CRC风险的个体对于实施个性化筛查策略至关重要。本综述总结了关于LS的原始研究工作,以找出MMR基因突变个体在子宫内膜癌诊断后CRC的相关性,可能涉及完善治疗策略,此外,本综述可能有助于临床医生和研究人员获取有关LS及其先进治疗可能性的最新信息。