RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Lynch Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Identification and pathogenicity validation of a novel MLH1 frameshift mutation in Lynch syndrome pedigree.
Zhou Dayang et al., Gene (20 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42288229/
- 2.
Colonoscopy screening outcomes in Lynch syndrome and differential colorectal cancer paths among MLH1/MSH2 carriers.
Briollais Laurent et al., Journal of the National Cancer Institute (19 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42895288/
- 3.
Integrating Lynch syndrome management into routine cancer pathways: a lifespan-oriented approach to patient-centred care and shared decision-making
Kelly Kohut et al., Hereditary Cancer in Clinical Practice (15 October 2026)
https://doi.org/10.1186/s13053-026-00360-z
- 4.
Histopathological and immunohistochemical analyses do not indicate timing of prophylactic hysterectomy: a retrospective analysis of endometrial biopsies in Lynch syndrome carriers.
van Leeuwen Lotte et al., Familial cancer (15 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42878963/
- 5.
Top Tips for Endoscopic Management of Lynch Syndrome and Familial Adenomatous Polyposis.
Katona Bryson W, Gastrointestinal endoscopy (15 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42880509/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Lynch Syndrome
Lynch syndrome is an inherited condition that greatly raises the lifetime risk of bowel cancer and several other cancers, including cancer of the uterus, ovary and stomach. It is caused by a change in one of the genes that repair DNA errors. Management includes regular colonoscopy, other tailored screening, and sometimes preventive surgery or aspirin. Family members can be offered genetic testing.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Lynch syndrome (LS), the most prevalent hereditary colorectal cancer (CRC) syndrome, accounts for approximately 2 %-3 % of all CRC cases and confers a significantly elevated cancer risk among affected family members, necessitating targeted preventive interventions. This study examined a 40-year-old female proband diagnosed with colon cancer at the First Affiliated Hospital of Kunming Medical University in October 2020, who fulfilled the Amsterdam II criteria. The four-generation pedigree comprised 42 members, including 9 individuals with malignant tumors and an average age of onset of 44.3 years, consistent with classical LS family features. Following the collection of blood samples, clinical data, and pedigree construction, next-generation sequencing (NGS) of the proband revealed a novel germline frameshift mutation in MLH1 exon 6: c.463dupC (p.L155Pfs*17). Subsequent Sanger sequencing of 20 first-degree relatives confirmed the variant in 7 carriers, including 3 individuals with confirmed colon cancer, demonstrating complete co-segregation of the mutation with the disease phenotype.
Common Questions
What is Lynch Syndrome?
Lynch syndrome is an inherited condition that greatly raises the lifetime risk of bowel cancer and several other cancers, including cancer of the uterus, ovary and stomach. It is caused by a change in one of the genes that repair DNA errors. Management includes regular colonoscopy, other tailored screening, and sometimes preventive surgery or aspirin. Family members can be offered genetic testing.
How many clinical trials are available for Lynch Syndrome?
RareWays currently indexes 71 clinical trials for Lynch Syndrome, of which 16 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Lynch Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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