ArticleCurrent genomics2009
Endometrial cancer as a familial tumor: pathology and molecular carcinogenesis (review).
Article in Current genomics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 24 citations in OpenAlex.
- Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.PloS one · 2020Article
- Impact of microsatellite status on chemotherapy for colorectal cancer patients withOncology letters · 2016Article
- Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.Cancer medicine · 2016Article
- Risk-reducing surgery in hereditary gynecological cancer: Clinical applications in Lynch syndrome and hereditary breast and ovarian cancer.Molecular and clinical oncology · 2015Article
- Biology of colorectal cancer.Ecancermedicalscience · 2015Review
- Candidate biomarkers for genetic and clinicopathological diagnosis of endometrial cancer.International journal of molecular sciences · 2013Review
- Lynch syndrome related endometrial cancer: clinical significance beyond the endometrium.Journal of hematology & oncology · 2013Article
- Relationship between DNA Mismatch Repair Deficiency and Endometrial Cancer.Molecular biology international · 2011Article
- Genetic variation in CYP11A1 and StAR in relation to endometrial cancer risk.Gynecologic oncology · 2010Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Some cases of endometrial cancer are associated with a familial tumor and are referred to as hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome). Such tumors are thought to be induced by germline mutation of the DNA mismatch repair (MMR) gene, but many aspects of the pathology of familial endometrial cancer are unclear and no effective screening method has been established. However, the pathology of endometrial cancer with familial tumor has been progressively clarified in recent studies. At present, about 0.5% of all cases of endometrial cancers meet the clinical diagnostic criteria for HNPCC. A recent analysis of the three MMR genes (hMLH1, hMSH2 and hMSH6) revealed germline mutations in 18 of 120 cases (15.0%) of endometrial cancer with familial accumulation of cancer or double cancer, with a frameshift mutation of the hMSH6 gene being the most common. Many cases with mutation did not meet the current clinical diagnostic criteria for HNPCC, indicating that familial endometrial cancer is often not diagnosed as HNPCC. The results suggest that the hMSH6 gene mutation may be important in carcinogenesis in endometrial cancer and germline mutations of the MMR gene may be more prevalent in cases associated with familial accumulation of cancer. An international large-scale muticenter study is required to obtain further information about the pathology of endometrial cancer as a familial tumor.
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