ArticleInternational journal of cancer2019
Lynch-like syndrome is as frequent as Lynch syndrome in early-onset nonfamilial nonpolyposis colorectal cancer.
Article in International journal of cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Microsatellite instability and mismatch repair deficiency prevalence among Hispanic/Latino individuals with colorectal cancer: a systematic review and meta-analysis.International journal of colorectal disease · 2026Pooled it
- WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand.PloS one · 2026Article
- Prediction of long-term recurrence-free and overall survival in early-onset colorectal cancer: the ENCORE multi-centre study.NPJ precision oncology · 2025Article
- Clinicopathological characteristics of Lynch-like syndrome.International journal of clinical oncology · 2024Article
- Screening and surveillance for hereditary colorectal cancer.Intestinal research · 2024Review
- Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort.Cancers · 2023Article
- Review
- Distinct Molecular Profiles of Sporadic Early-Onset Colorectal Cancer: A Population-Based Cohort and Systematic Review.Gastro hep advances · 2023Review
- An age stratified analysis of the biomarkers in patients with colorectal cancer.Scientific reports · 2021Article
- From APC to the genetics of hereditary and familial colon cancer syndromes.Human molecular genetics · 2021Review
- A Distinct Innate Immune Signature of Early Onset Colorectal Cancer.ImmunoHorizons · 2021Article
- Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.Cancers · 2021Article
- Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors.Cancers · 2021Review
- Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.JCI insight · 2020Article
- Molecular screening and clinicopathologic characteristics of Lynch-like syndrome in a Chinese colorectal cancer cohort.American journal of cancer research · 2020Article
- Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.Frontiers in genetics · 2020Article
- Microsatellite Instability: Diagnosis, Heterogeneity, Discordance, and Clinical Impact in Colorectal Cancer.Cancers · 2019Review
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Authors and funding
14 authors at 4 institutions in 3 countries.
Funding
Abstract
Early-onset (<50 years-old) nonpolyposis nonfamilial colorectal cancer (EO NP NF CRC) is a common clinical challenge. Although Lynch syndrome (LS) is associated with EO CRC, the frequency of this syndrome in the EO NF cases remains unknown. Besides, mismatch repair deficient (MMRd) CRCs with negative MMR gene testing have recently been described in up to 60% of cases and termed "Lynch-like syndrome" (LLS). Management and counseling decisions of these patients are complicated because of unconfirmed suspicions of hereditary cancer. To define the prevalence of MMR deficient CRCs, LS and LLS in patients with EO NP NF CRC, we recruited 102 patients with a first diagnosis of NP NF CRC ≤ 50 years old during 2003-2009 who underwent genetic counseling at our institution in Argentina. Tumor immunohistochemical (IHC) MMR for protein expression and microsatellite instability (MSI) status were evaluated, and in those with loss of MLH1 expression by IHC, somatic BRAF V600E mutation and both somatic and germline MLH1 methylation levels were studied. Tumors characterized as MMRd without somatic BRAF mutation nor MLH1 methylation were sent for germline analysis. Twenty one (20.6%) tumors were MMRd. Fourteen of 16 putative LS cases underwent germline testing: 6 pathogenic mutations were identified and 8 cases had no identifiable pathogenic mutations. The prevalence of LS and LLS in this cohort was 5.8% (6/102) and 7.8% (8/102), respectively. As a conclusion we found that 20% of patients with EO NP NF CRC have MMRd tumors, and at least half of these are likely to have LLS.
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