ArticleJCO precision oncology2021
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Article in JCO precision oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 66 citations in OpenAlex.
- A Lynch Syndrome Family With GermlineClinical case reports · 2026Article
- Early and late-onset colorectal cancers: a case-case comparison of risk factors.Cancer causes & control : CCC · 2026Article
- Lynch Syndrome: An Update of Underlying Molecular Mechanisms, Phenotypes and Methods to Classify Variants of Uncertain Significance.Biomedicines · 2026Review
- Instability in Pentanucleotide Markers in a Subset of Microsatellite Instability-High Colorectal Cancer.Current oncology (Toronto, Ont.) · 2026Article
- Global Proteomic Analysis of Colorectal Cancers Stratified by Microsatellite Instability Subtype Reveals Protein Differences.bioRxiv : the preprint server for biology · 2026Article
- Prostate Cancer Risk and DNA Mismatch Repair Deficiency Among Lynch Syndrome Patients.European urology open science · 2026Article
- Lynch Syndrome in Focus: A Multidisciplinary Review of Cancer Risk, Clinical Management, and Special Populations.Cancers · 2025Review
- Novel machine-learning bioinformatics reveal distinct metabolic alterations for enhanced colorectal cancer diagnosis and monitoring.iMetaOmics · 2025Article
- Hereditary Colorectal Cancer: From Diagnosis to Surgical Options.Clinics in colon and rectal surgery · 2025Review
- Germline variants in patients from the Iranian hereditary colorectal cancer registry.Cancer cell international · 2025Article
- Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.NPJ genomic medicine · 2025Article
- Hereditary Colorectal Cancer: Clinical Implications of Genomic Medicine and Precision Oncology.Journal of the anus, rectum and colon · 2025Review
- Article
- A case report and literature review: A 19-year-old with endometrial carcinoma treated with medroxyprogesterone acetate. Importance of the medical interview and endometrial examination.Clinical case reports · 2024Article
- Nationwide Real-World Data of Microsatellite Instability and/or Mismatch Repair Deficiency in Cancer: Prevalence and Testing Patterns.Diagnostics (Basel, Switzerland) · 2024Article
- The Evolution of Genetic Testing from Focused Testing to Panel Testing and from Patient Focused to Population Testing: Are We There Yet?Clinics in colon and rectal surgery · 2024Review
- Mismatch repair deficiency and microsatellite instability in urothelial carcinoma: a systematic review and meta-analysis.BMJ oncology · 2024Article
- Pseudogene CSPG4P12 inhibits colorectal cancer progression by attenuating epithelial-mesenchymal transition.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2024Article
- Microsatellite Instability Is Insufficiently Used as a Biomarker for Lynch Syndrome Testing in Clinical Practice.JCO precision oncology · 2024Article
- PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer.Familial cancer · 2023Article
Corrections and comments
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Authors and funding
43 authors at 20 institutions in 1 country.
Funding
Abstract
Hereditary cancer syndromes infer high cancer risks and require intensive surveillance. Identification of high-risk individuals among patients with colorectal cancer (CRC) needs improvement.
methodsThree thousand three hundred ten unselected adults who underwent surgical resection for primary invasive CRC were prospectively accrued from 51 hospitals across Ohio between January 1, 2013, and December 31, 2016. Universal Tumor screening (UTS) for mismatch repair (MMR) deficiency was performed for all, and pathogenic germline variants (PGVs) were identified using multigene panel testing (MGPT) in those who met at least one inclusion criterion: MMR deficiency, diagnosed < 50 years, multiple primary tumors (CRC or endometrial cancer), or with a first-degree relative with CRC or endometrial cancer.
resultsFive hundred twenty-five patients (15.9%) had MMR deficiency. Two hundred thirty-four of 3,310 (7.1%; 16% of the 1,462 who received MGPT) had 248 PGVs in cancer susceptibility genes. One hundred forty-two (4.3%) had a PGV in an MMR gene, and 101 (3.1%) had a PGV in a non-MMR gene. Ten with Lynch syndrome (LS) also had a non-MMR PGV and were included in both groups. Two (0.06%) had constitutional
conclusionUTS alone is insufficient for identifying a large proportion of CRC patients with hereditary syndromes, including some with LS. At a minimum, 7.1% of individuals with CRC have a PGV and pan-cancer MGPT should be considered for all patients with CRC.
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