ArticleCancer science2024
Clinical features and impact of p53 status on sporadic mismatch repair deficiency and Lynch syndrome in uterine cancer.
Article in Cancer science, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Impact of TP53 somatic mutations on prognosis in endometrial cancer: a systematic review and meta-analysis.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Pooled it
- Molecular Profile of Advanced Endometrial Cancer (FIGO III-IV) in a Polish Multicentre Cohort: Clinicopathological Characterisation and Treatment Implications.Journal of clinical medicine · 2026Article
- Prognostic and clinicopathological implications of mismatch-repair deficiency and MLH1 promoter methylation status in endometrial carcinoma.International journal of clinical oncology · 2026Article
- Article
- Pathological complete response following addition of durvalumab to gemcitabine and cisplatin therapy for intrahepatic cholangiocarcinoma with Lynch syndrome-associated mismatch repair deficiency.Clinical journal of gastroenterology · 2025Article
- Review
- Identification of Key Genes Involved in the Occurrence and Development of Endometrial Cancer.International journal of women's health · 2025Article
- Review
- Clinical features and impact of p53 status on sporadic mismatch repair deficiency and Lynch syndrome in uterine cancer.Cancer science · 2024Article
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
The clinical features of sporadic mismatch repair deficiency (MMRd) and Lynch syndrome (LS) in Japanese patients with endometrial cancer (EC) were examined by evaluating the prevalence and prognostic factors of LS and sporadic MMRd in patients with EC. Targeted sequencing of five LS susceptibility genes (MLH1, MSH2, MSH6, PMS2, and EPCAM) was carried out in 443 patients with EC who were pathologically diagnosed with EC at the National Cancer Center Hospital between 2011 and 2018. Pathogenic variants in these genes were detected in 16 patients (3.7%). Immunohistochemistry for MMR proteins was undertaken in 337 of the 433 (77.9%) EC patients, and 91 patients (27.0%) showed absent expression of at least one MMR protein. The 13 cases of LS with MMR protein loss (93.8%) showed a favorable prognosis with a 5-year overall survival (OS) rate of 100%, although there was no statistically significant difference between this group and the sporadic MMRd group (p = 0.27). In the MMRd without LS group, the 5-year OS rate was significantly worse in seven patients with an aberrant p53 expression pattern than in those with p53 WT (53.6% vs. 93.9%, log-rank test; p = 0.0016). These results suggest that p53 abnormalities and pathogenic germline variants in MMR genes could be potential biomarkers for the molecular classification of EC with MMRd.
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