林奇综合征(Lynch syndrome, LS)曾被称为遗传性非息肉病性结直肠癌(HNPCC), 是一种显性遗传性癌症综合征, 由细胞错配修复(mismatch repair, MMR )基因的可遗传突变引起, 表现为易患结直肠癌、子宫内膜癌、卵巢癌、胃癌、小肠癌...
必应词典为您提供Mismatch-repair-cancer-syndrome的释义,网络释义: 透克氏症;
Lynch综合征与错配修复(Mismatch Repair, MMR)基因 Lynch综合征(Lynch Syndrome, LS)又称遗传性非息肉性结直肠癌(hereditary non-polyposis colorectal cancer, HNPCC)。Lynch综合征患者对多种肿瘤均易感,如结直肠癌、子宫内膜癌、胃癌、卵巢癌、小肠癌、泌尿系统肿瘤等,其中结直肠癌和子宫内膜癌的终身患病风险分别为...
Heterozygous mutations in one of the mismatch repair (MMR) genesMLH1,MSH2,MSH6andPMS2cause the dominant adult cancer syndrome termed Lynch syndrome or hereditary non-polyposis colorectal cancer. During the past 10 years, some 35 reports have delineated the phenotype of patients with biallelic inherit...
Lynch syndrome (LS) is a hereditary cancer predisposition syndrome primarily defined by increased risk for colorectal and uterine cancers. Individuals with germline pathogenic variants in the mismatch repair (MMR) genes (MLH1, MSH2/EPCAM, MSH6, and PMS2) are diagnosed with LS and recommended high...
It is a common, autosomal dominant syndrome characterized by early onset (average age <45 years), and the occurrence of neoplastic lesions in a variety of tissues including endometrial, skin, ovarian, gastric, and renal. In the HNPCC population (up to 70 years of age), the cancer risks ...
Introduction: Surveillance of Lynch syndrome (LS) is recommended to reduce cancer-risk. There is an increased awareness that cancer-risk may vary with mismatch-repair mutation and family history. However, gene-specific and family-specific surveillance are not recommended. Therefore, we aimed to ...
Originally identified in bacteria and yeast, the human homologues of DNA mismatch repair genes have been implicated in the pathogenesis of the hereditary nonpolyposis colorectal cancer syndromes, as well as a variety of different sporadic cancers. An appreciation of their role in cancer is predicated...
Mismatch repair (MMR) malfunction causes the accumulation of mismatches in the genome leading to genomic instability and cancer. The inactivation of an MMR gene (MSH2, MSH6, MLH1, or PMS2) with an inherited mutation causes Lynch syndrome (LS), a dominant susceptibility to cancer. MMR gene var...
The role of diagnostic, prognostic, and predictive biomarkers in the management of early pancreatic cancer Sarah Maloney Stephen J. Clarke Nick Pavlakis Journal of Cancer Research and Clinical Oncology (2023) Complete pathological response of colorectal peritoneal metastases in Lynch syndrome after immu...