Lynch syndrome
Information
- Disease name
- Lynch syndrome
- Disease ID
- DOID:3883
- Description
- "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers." [url:http\://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer, url:http\://ghr.nlm.nih.gov/condition/lynch-syndrome]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| MLH1 | 3 | 36,993,518 | 37,050,846 | 100 |
| MLH1 | 3 | 36,993,518 | 37,050,846 | 32 |
| MSH2 | 2 | 47,403,156 | 47,483,223 | 30 |
| MSH6 | 2 | 47,783,145 | 47,806,953 | 12 |
| FBXO11 | 2 | 47,806,920 | 47,906,498 | 10 |
| RET | 10 | 43,077,069 | 43,130,351 | 10 |
| PRKDC | 8 | 47,773,111 | 47,960,136 | 10 |
| PTCH1 | 9 | 95,442,980 | 95,509,266 | 8 |
| CFTR | 7 | 117,480,025 | 117,668,665 | 8 |
| FANCA | 16 | 89,737,549 | 89,816,647 | 8 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02912559 | Active, not recruiting | Phase 3 | Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair | October 16, 2017 | April 2, 2025 |
| NCT00217737 | Active, not recruiting | Phase 3 | Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer | September 6, 2005 | September 30, 2024 |
| NCT03631641 | Active, not recruiting | Phase 2 | Nivolumab in Preventing Colon Adenomas in Participants With Lynch Syndrome and a History of Partial Colectomy | August 21, 2018 | December 31, 2020 |
| NCT05257057 | Active, not recruiting | Frequency of Endometrial Cancer Precursors Associated With Lynch Syndrome | May 8, 2019 | December 2024 | |
| NCT02494791 | Active, not recruiting | N/A | Universal Screening for Lynch Syndrome in Women With Endometrial and Non-Serous Ovarian Cancer | July 2015 | July 2025 |
| NCT02194387 | Active, not recruiting | N/A | Energy Balance Interventions in Increasing Physical Activity in Breast Cancer Gene Positive Patients, Lynch Syndrome-Positive Patients, CLL Survivors or High-Risk Family Members | September 17, 2014 | September 30, 2025 |
| NCT03831698 | Active, not recruiting | Phase 2 | Omega 3 Fatty Acids in Colorectal Cancer (CRC) Prevention in Patients With Lynch Syndrome (COLYNE) | February 6, 2019 | August 2024 |
| NCT02206360 | Active, not recruiting | Pancreatic Cancer Early Detection Program | April 2014 | June 2024 | |
| NCT04125914 | Active, not recruiting | N/A | Weight Management and Health Behavior Intervention in Lowering Cancer Risk for BRCA Positive and Lynch Syndrome Families | January 26, 2017 | April 30, 2026 |
| NCT02371135 | Active, not recruiting | Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis Syndromes | February 2015 | February 2025 | |
| NCT03832985 | Active, not recruiting | Early Phase 1 | Pediatric Reporting of Adult-Onset Genomic Results | November 25, 2020 | June 30, 2024 |
| NCT04145388 | Active, not recruiting | N/A | Family History Study on Cancer Risk | July 1, 2020 | August 31, 2025 |
| NCT03460483 | Active, not recruiting | N/A | Universal Endometrial Cancer DNA Sequencing for Detection of Lynch Syndrome and Personalized Care | March 30, 2018 | June 30, 2023 |
| NCT01823471 | Completed | N/A | I-Scan For Colon Polyp Detection In HNPCC | November 2010 | June 2013 |
| NCT01845753 | Completed | Molecular Screening for Lynch Syndrome in Denmark | October 2012 | December 31, 2019 | |
| NCT04131062 | Completed | N/A | Trial to Compare eConsent With Standard Consent Among Prospective Biobank Participants | November 1, 2019 | May 19, 2022 |
| NCT01850654 | Completed | N/A | Ohio Colorectal Cancer Prevention Initiative | December 26, 2012 | January 2, 2018 |
| NCT00633607 | Completed | Hereditary Colorectal and Associated Tumor Registry Study | April 2012 | January 26, 2018 | |
| NCT04452266 | Completed | Predictive Factor Study of the Occurrence of Endometrial Cancer in Patients With Lynch Syndrome | August 14, 2020 | October 20, 2020 | |
| NCT00898768 | Completed | Early Phase 1 | Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch Syndrome | May 2009 | December 2014 |
| NCT02052908 | Completed | Phase 1 | Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch Syndrome | January 27, 2014 | January 5, 2021 |
| NCT02198092 | Completed | Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes | July 2014 | August 2019 | |
| NCT00905710 | Completed | N/A | Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch Syndrome | September 2008 | May 2016 |
| NCT02951390 | Completed | N/A | High Definition White-Light Colonoscopy vs. Chromoendoscopy for Surveillance of Lynch Syndrome. | July 2016 | December 31, 2017 |
| NCT03046849 | Completed | Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria | March 8, 2017 | February 26, 2019 | |
| NCT03047226 | Completed | Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer | February 28, 2017 | July 31, 2018 | |
| NCT01216930 | Completed | Molecular Screening for Lynch Syndrome in Southern Denmark | October 2010 | September 2015 | |
| NCT01582841 | Completed | N/A | Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting | February 2012 | July 2016 |
| NCT03344289 | Completed | N/A | Linked Color Imaging Versus High-definition White Light Endoscopy for the Detection of Polyps in Patients With Lynch Syndrome (LCI-LYNCH) | January 21, 2018 | June 9, 2020 |
| NCT02570516 | Completed | N/A | NBI Versus Indigo Carmine During Colonoscopy in Lynch Syndrome | November 2015 | February 2018 |
| NCT02645084 | Completed | N/A | Identifying Patients With Hereditary and Familial Colorectal Cancer by Using an Online Risk Tool | February 2015 | October 30, 2016 |
| NCT00609505 | Completed | N/A | Telemedicine vs. Face-to-Face Cancer Genetic Counseling | August 2008 | April 2011 |
| NCT04197856 | Enrolling by invitation | N/A | Direct Information to At-risk Relatives | February 6, 2020 | December 31, 2025 |
| NCT06126120 | Enrolling by invitation | Colonoscopy Check-up in People With Lynch Syndrome | January 17, 2024 | December 2024 | |
| NCT06447961 | Not yet recruiting | PSYLIVED: the Psychological Impacts of Living With an Inherited Colorectal Cancer Predisposition Syndrome | June 15, 2024 | August 1, 2026 | |
| NCT01199250 | Not yet recruiting | Biomarkers in Samples From Patients With Endometrial Cancer | January 2100 | ||
| NCT05909410 | Not yet recruiting | Perception About Benefits and Risks Related to Combined Hormonal Contraceptives Use in Patients With Lynch Syndrome | July 1, 2023 | September 1, 2023 | |
| NCT05963191 | Not yet recruiting | N/A | CAD-EYE System for the Detection of Neoplastic Lesions in Patients With Lynch Syndrome | October 2, 2023 | October 2, 2025 |
| NCT05495776 | Recruiting | Prospective Multicenter Registry Study to Assess the Frequency of Lynch Syndrome Among Patients With Colorectal Cancer | August 1, 2022 | December 31, 2028 | |
| NCT00508573 | Recruiting | Registry for Women Who Are At Risk Or May Have Lynch Syndrome | May 2007 | May 2029 | |
| NCT00582296 | Recruiting | Multi-Organ Screening Recommendations in Patients With Lynch Syndrome | December 2004 | December 2025 | |
| NCT00927680 | Recruiting | Familial Colorectal Cancer Registry in Hispanics | July 2007 | January 2026 | |
| NCT02000089 | Recruiting | Phase 3 | The Cancer of the Pancreas Screening-5 CAPS5)Study | January 6, 2014 | December 2025 |
| NCT02012699 | Recruiting | Integrated Cancer Repository for Cancer Research | November 1, 2013 | December 2099 | |
| NCT02359565 | Recruiting | Phase 1 | Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, Hypermutated Brain Tumors, Ependymoma or Medulloblastoma | May 22, 2015 | December 31, 2026 |
| NCT02813824 | Recruiting | Phase 3 | Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome | November 14, 2017 | December 15, 2027 |
| NCT03050268 | Recruiting | Familial Investigations of Childhood Cancer Predisposition | April 6, 2017 | March 31, 2037 | |
| NCT03124212 | Recruiting | Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland | April 1, 2017 | September 30, 2024 | |
| NCT03303833 | Recruiting | The GEOLynch Cohort Study | July 1, 2006 | December 2030 | |
| NCT03702309 | Recruiting | Liquid Biopsy Evaluation and Repository Development at Princess Margaret | August 3, 2017 | July 6, 2024 | |
| NCT04095195 | Recruiting | Registry of Subjects at Risk of Pancreatic Cancer | August 20, 2019 | September 20, 2045 | |
| NCT04379999 | Recruiting | Early Phase 1 | Atorvastatin ± Aspirin in Lynch Syndrome Syndrome | September 10, 2018 | December 31, 2024 |
| NCT04407611 | Recruiting | N/A | Scalable Communication Modalities for Returning Genetic Research Results | March 6, 2023 | December 2024 |
| NCT04494945 | Recruiting | N/A | Identifying and Caring for Individuals With Inherited Cancer Syndrome | March 9, 2020 | June 10, 2030 |
| NCT04711434 | Recruiting | Phase 3 | PD-1 Antibody for The Prevention of Adenomatous Polyps and Second Primary Tumors in Lynch Syndrome Patients | November 1, 2020 | December 31, 2025 |
| NCT04791644 | Recruiting | Faecal Microbiota Characterization in Lynch Syndrome (LS) Patients With or Without Colorectal Neoplasia | April 20, 2021 | December 30, 2024 | |
| NCT04865601 | Recruiting | DNA Adductomics for Colorectal Cancer Investigation | February 15, 2021 | December 31, 2025 | |
| NCT05410977 | Recruiting | Collecting Blood and Stool Samples to Detect Colorectal Cancer or Advanced Neoplasia in Lynch Syndrome Patients, CORAL Study | March 30, 2022 | April 1, 2026 | |
| NCT05411718 | Recruiting | Phase 2 | A Phase IIa Randomized, Double-Blinded Clinical Trial of Naproxen or Aspirin for Cancer Immune Interception in Lynch Syndrome | March 21, 2023 | November 30, 2025 |
| NCT05419011 | Recruiting | Phase 2 | Testing a Combination of Vaccines for Cancer Prevention in Lynch Syndrome | May 8, 2023 | February 1, 2027 |
| NCT05677048 | Recruiting | N/A | Feasibility Study: IGNITE-TX (Identifying Individuals for Genetic Testing & Treatment) Intervention | April 14, 2023 | October 31, 2027 |
| NCT05692596 | Recruiting | The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics | October 6, 2022 | August 2025 | |
| NCT05704010 | Recruiting | N/A | Videocapsule Endoscopy in Lynch Syndrome | November 1, 2018 | December 31, 2026 |
| NCT06163365 | Recruiting | Inherited Cancer Early Diagnosis (ICED) Study | July 26, 2022 | July 26, 2025 | |
| NCT06218433 | Recruiting | N/A | Urothelial Cancer Screening in Individuals With Lynch Syndrome Using a Urine Tumor DNA Panel (LS-URO Study) | April 10, 2023 | December 31, 2034 |
| NCT04920149 | Recruiting | Phase 2 | Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome | March 21, 2022 | October 15, 2038 |
| NCT04978350 | Recruiting | N/A | Overcoming Barriers to the Uptake of Cascade Screening for Lynch Syndrome: Workbook Feasibility Study | October 1, 2021 | August 2024 |
| NCT05078866 | Recruiting | Phase 1/Phase 2 | Cancer Preventive Vaccine Nous-209 for Lynch Syndrome Patients | November 10, 2022 | July 31, 2025 |
| NCT05129605 | Recruiting | Prostate Cancer Genetic Risk Evaluation and Screening Study | February 12, 2020 | December 2040 | |
| NCT04508764 | Terminated | N/A | Implementation of the Families Accelerating Cascade Testing Toolkit (FACTT) for Hereditary Breast and Ovarian Cancer and Lynch Syndrome | April 9, 2021 | March 20, 2024 |
| NCT04906382 | Terminated | Early Phase 1 | Tislelizumab for the Treatment of Recurrent Mismatch Repair Deficient Endometrial Cancer | July 1, 2021 | September 1, 2022 |
| NCT02053805 | Unknown status | N/A | Prostate Cancer Screening Among Men With High Risk Genetic Predisposition | February 2014 | June 2019 |
| NCT04516083 | Unknown status | Lynch Syndrome Can be Diagnosed Just From Somatic Mismatch Repair Mutation | December 21, 2019 | June 30, 2021 | |
| NCT03744962 | Unknown status | MSI in Circulatory DNA of Endometrial Cancer | November 10, 2018 | December 23, 2020 | |
| NCT04909671 | Unknown status | N/A | Evaluation of ArTificial Intelligence System (Gi-Genius) for adenoMa dEtection in Lynch Syndrome. | September 13, 2021 | December 1, 2023 |
| NCT04778566 | Withdrawn | Evaluating the Cologuard Test for Use in Lynch Syndrome | November 2021 | September 2022 | |
| NCT04500548 | Withdrawn | Phase 1 | Testing the Combination of Two Immunotherapy Drugs (Nivolumab and Ipilimumab) in Children, Adolescent, and Young Adult Patients With Relapsed/Refractory Cancers That Have an Increased Number of Genetic Changes, The 3CI Study | January 28, 2021 | June 21, 2022 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:9905
- Cross Reference ID (Disease Ontology)
- MESH:D003123
- Cross Reference ID (Disease Ontology)
- MIM:PS120435
- Cross Reference ID (Disease Ontology)
- NCI:C120083
- Cross Reference ID (Disease Ontology)
- ORDO:144
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:700064004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0009405
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1333990
- Exact Synonym (Disease Ontology)
- COCA 1
- Exact Synonym (Disease Ontology)
- Hereditary Defective Mismatch Repair syndrome
- Exact Synonym (Disease Ontology)
- Hereditary non-polyposis colon cancer
- Exact Synonym (Disease Ontology)
- Hereditary non-polyposis colon cancer syndrome
- Exact Synonym (Disease Ontology)
- Hereditary non-polyposis colorectal cancer
- Exact Synonym (Disease Ontology)
- Hereditary non-polyposis colorectal cancer syndrome
- Exact Synonym (Disease Ontology)
- Hereditary nonpolyposis colon cancer
- Exact Synonym (Disease Ontology)
- Hereditary nonpolyposis colon cancer syndrome
- Exact Synonym (Disease Ontology)
- hereditary nonpolyposis colorectal cancer
- Exact Synonym (Disease Ontology)
- Hereditary nonpolyposis colorectal cancer syndrome
- Exact Synonym (Disease Ontology)
- hereditary nonpolyposis colorectal neoplasm
- Exact Synonym (Disease Ontology)
- HNPCC - hereditary nonpolyposis colon cancer