ArticleHereditary cancer in clinical practice2023
The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening.
Article in Hereditary cancer in clinical practice, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 3 citations in OpenAlex.
- Incidence of Germline Genetic Variants in Patients with a Urinary Tract Cancer and Association with Outcomes.European urology oncology · 2026Article
- Lynch Syndrome in Focus: A Multidisciplinary Review of Cancer Risk, Clinical Management, and Special Populations.Cancers · 2025Review
- Prevalence of Mismatch Repair Deficiency in Primary Prostate Cancer in a Large Prospective Cohort.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Assessment of mismatch repair proteins (MLH1 and MSH2) and p53 immunohistochemical expression in prostatic carcinoma: association with different clinicopathologic characteristics.Ecancermedicalscience · 2025Article
- Dual primary gastric and colorectal cancer: The known hereditary causes and underlying mechanisms.World journal of gastrointestinal oncology · 2024Article
- Development and validation of a deep learning-based microsatellite instability predictor from prostate cancer whole-slide images.NPJ precision oncology · 2024Article
- Prostate Cancer Associated with Muir-Torre Syndrome: A Rare Case Report and Literature Review.Case reports in oncologyArticle
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8 authors at 1 institution in 1 country.
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Abstract
backgroundProstate cancer is one of the most heritable human cancers. Lynch syndrome is an autosomal dominant inheritance caused by germline mutations in DNA mismatch repair (MMR) genes, which are also associated with an increased incidence of prostate cancer. However, prostate cancer has not been defined as a Lynch syndrome-associated cancer. The proportion of Lynch syndrome patients in primary prostate cancers is unclear. In this study, we investigated MMR protein loss using universal immunohistochemical screening to determine the prevalence of Lynch syndrome in patients with localized prostate cancer who underwent radical prostatectomy.
methodsOne hundred twenty-nine surgical specimens from radical prostatectomy performed at Toranomon Hospital between 2012 and 2015 were retrospectively tested using universal screening with immunohistochemistry staining for expression of the MMR proteins MLH1, PMS2, MSH2, and MSH6. For all suspected MMR-deficient patients, germline genetic tests focusing on MMR genes were performed.
resultsMMR protein loss was found in only one patient (0.8%) who showed dual MSH2/MSH6 loss. This patient showed a single nucleotide pathogenic germline mutation from c.1129 C to T (p.Gln377*) at exon 7 in the MSH2 gene. He was diagnosed with a primary prostate cancer at 66 years of age. He had a documented history of Lynch syndrome (Muir-Torre syndrome) with previous colon cancer, sebaceous tumor, and keratoacanthoma as well as subsequent bladder cancer, all of which also showed dual MSH2/MSH6 loss. He also had a strong family history of colorectal and other Lynch syndrome-associated cancers. The pathological stage was pT3aN0M0, and the pathological grade was Gleason 7(4 + 3) with tertiary pattern 5.
conclusionsIn this study, immunohistochemical screening of MMR proteins for Lynch syndrome was performed in a series of prostate cancer cases. The prevalence of Lynch syndrome in localized prostate cancer was 0.8%, which is low compared with other Lynch syndrome-associated cancers.
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