ArticleFrontiers in oncology2023
Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome.
Article in Frontiers in oncology, 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, 6 citations in OpenAlex.
- The germline MLH1 c.2054 C>T mutation disrupts DNA mismatch repair and is detectable by digital PCR.Cancer letters · 2026Article
- Integrated tumor and germline profiling of lynch syndrome in a North Indian cohort.Frontiers in oncology · 2026Article
- Imaging genomics of cancer: a bibliometric analysis and review.Cancer imaging : the official publication of the International Cancer Imaging Society · 2025Review
- Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.NPJ genomic medicine · 2025Article
- Early-stage endometrioid carcinoma with MSH6 protein deficiency: pitfalls in the diagnostic interpretation of microsatellite instability.Frontiers in oncology · 2025Article
- Evaluation of microsatellite instability patterns in mismatch repair deficiency: a retrospective analysis of 285 endometrial cancers.Frontiers in immunology · 2025Article
- Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.Molecular genetics & genomic medicine · 2024Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Aims: Tumor immunohistochemical staining (IHC) of DNA mismatch repair (MMR) proteins is often used to guide germline genetic testing and variant classification for patients with suspected Lynch syndrome. This analysis examined the spectrum of germline findings in a cohort of individuals showing abnormal tumor IHC. Methods: We assessed individuals with reported abnormal IHC findings and referred for testing with a six-gene syndrome-specific panel (n=703). Pathogenic variants (PVs) and variants of uncertain significance (VUS) in MMR genes were designated expected/unexpected relative to IHC results. Results: The PV positive rate was 23.2% (163/703; 95% confidence interval [CI], 20.1%-26.5%); 8.0% (13/163; 95% CI, 4.3%-13.3%) of PV carriers had a PV in an unexpected MMR gene. Overall, 121 individuals carried VUS in MMR genes expected to be mutated based on IHC results. Based on independent evidence, in 47.1% (57/121; 95% CI, 38.0%-56.4%) of these individuals the VUSs were later reclassified as benign and in 14.0% (17/121; 95% CI, 8.4%-21.5%) of these individuals the VUSs were reclassified as pathogenic. Conclusions: Among patients with abnormal IHC findings, IHC-guided single-gene genetic testing may miss 8% of individuals with Lynch syndrome. In addition, in patients with VUS identified in MMR genes predicted to be mutated by IHC, extreme caution must be taken when the IHC results are considered in variant classification.
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