ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2017
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04533555 (Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer), which is not on this map. Cited by 80 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer
Who cites it
80 citing papers in PubMed, 133 citations in OpenAlex.
- Clinical utility of diagnosing Lynch syndrome in gynecologic oncology: a joint statement from four Japanese academic societies.International journal of clinical oncology · 2026Review
- Breast cancer risk genes affecting individual radiosensitivity.Scientific reports · 2026Article
- Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.International journal of molecular sciences · 2026Review
- Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.Archives of gynecology and obstetrics · 2026Review
- Mismatch repair protein imbalance in head and neck squamous cell carcinoma: associations with clinical features and survival.Therapeutic advances in medical oncology · 2026Article
- Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.Nature communications · 2025Article
- Therapeutic targeting of mismatch repair-deficient cancers.Nature reviews. Clinical oncology · 2025Review
- Dysfunctional mismatch repair in patients with early triple-negative breast cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Article
- Genomic characterization of patients with colorectal cancer.Hereditary cancer in clinical practice · 2025Article
- Article
- Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank.Journal of medical genetics · 2024Article
- Clinical genetics in breast cancer.Journal of surgical oncology · 2024Review
- Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients.Journal of personalized medicine · 2024Article
- Global characterization of RNA editing in genetic regulation of multiple ovarian cancer subtypes.Molecular therapy. Nucleic acids · 2024Article
- Screening and Management of Lynch Syndrome: The Chinese Experience.Clinics in colon and rectal surgery · 2023Review
- Genomic and Phenotypic Biomarkers for Precision Medicine Guidance in Advanced Prostate Cancer.Current treatment options in oncology · 2023Review
- The story of hereditary nonpolyposis colorectal cancer: celebrating the spirit of investigation.iGIE : innovation, investigation and insights · 2023Article
- What is the appropriate genetic testing criteria for breast cancer in the Chinese population?-Analysis of genetic and clinical features from a single cancer center database.Cancer medicine · 2023Article
- Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.Scientific reports · 2023Article
- A Pathogenic Variant Reclassified to the PseudogeneInternational journal of molecular sciences · 2023Article
20 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2. Most of these studies were performed on cohorts with disease suggestive of hereditary CRC and population-based CRC and endometrial cancer cohorts, possibly biasing results. We aimed to describe a large cohort of mismatch repair (MMR) mutation carriers ascertained through multigene panel testing, evaluate their phenotype, and compare the results with those of previous studies. Methods We retrospectively reviewed clinical histories of patients who had multigene panel testing, including the MMR and EPCAM genes, between March 2012 and June 2015 (N = 34,981) and performed a series of statistical comparisons. Results Overall, MSH6 mutations were most frequent, followed by PMS2, MSH2, MLH1, and EPCAM mutations, respectively. Of 528 patients who had MMR mutations, 63 (11.9%) had breast cancer only and 144 (27.3%) had CRC only. When comparing those with breast cancer only to those with CRC only, MSH6 and PMS2 mutations were more frequent than MLH1 and MSH2 mutations ( P = 2.3 × 10
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.