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Hereditary Nonpolyposis Colorectal Cancer

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1. Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) Guideline

repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study. Clinical Cancer Res 2006; 12: 3389–3393 [80] Rodriguez-Bigas MA, Vasen HF, Lynch HT et al. Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carci- noma. International Collaborative Group on HNPCC. Cancer 1998; 83: 240–244 [81] SchulmannK,BraschFE,KunstmannEetal.HNPCC-associatedsmall bowel cancer (...) cancer and hereditary nonpolyposis colorectal cancer (Lynch syndrome) in a large population database. Fam Cancer 2005; 4: 239–244 [98] Dove-Edwin I, Sasieni P, Adams J et al. Prevention ofcolorectal can- cer by colonoscopic surveillance in individuals with a family history ofcolorectal cancer: 16 year, prospective, follow-up study.BMJ 2005; 331: 1047 [99] Hatfield E, Green JS, Woods MO et al. Impactofcolonoscopic screening in familial colorectal cancer type X. Mol Genet Genomic Med 2018; 6: 1021–1030

2020 European Society of Gastrointestinal Endoscopy

2. Advanced imaging for detection and differentiation of colorectal neoplasia: European Society of Gastrointestinal Endoscopy (ESGE) Guideline

to be considered. Weak recommendation, low qualityevidence. ABBREVIATIONS ADR adenoma detection rate AFI autofluorescence imaging endoscopy AI artificial intelligence ASGE American Society for Gastrointestinal Endos- copy BLI blue light imaging CE chromoendoscopy CI confidence interval CRC colorectal cancer EMR endoscopic mucosal resection ESD endoscopic submucosal dissection ETMI endoscopic trimodal imaging FACILE Frankfurt Advanced Chromoendoscopic IBD LEsions FAP familial adenomatous polyposis FICE flexible (...) ; 51Introduction Colonoscopy is the key examination technique in colorectal cancer (CRC) screening programs for detection and treatment of early precursor lesions and timely diagnosis of colorectal cancer [1,2]. The quality of colonoscopy, which depends on both bowel preparation and examination technique, is the main determining factor that drives the protective effect of this invasive examination in decreasing the societal disease burden [3–5]. Over the last 15 years, several new techniques to improve polyp

2020 European Society of Gastrointestinal Endoscopy

3. Malignant Neoplasms of the Small Intestine (Diagnosis)

. An overview of adenocarcinoma of the small intestine. Oncology (Huntingt) . 1997 Apr. 11(4):529-36; discussion 545, 549-50. . Rodriguez-Bigas MA, Vasen HF, Lynch HT, et al. Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC. Cancer . 1998 Jul 15. 83(2):240-4. . Sturgeon C, Chejfec G, Espat NJ. Gastrointestinal stromal tumors: a spectrum of disease. Surg Oncol . 2003 Jul. 12(1):21-6. . Suster S. Gastrointestinal stromal (...) mismatch repair in small bowel adenocarcinoma in celiac disease. Cancer Res . 2004 Oct 1. 64(19):7073-7. . Hemminki A. Inherited predisposition to gastrointestinal cancer: The molecular backgrounds of Peutz-Jeghers syndrome and hereditary nonpolyposis colorectal cancer . University of Helsinki; 1998. Filiz G, Yerci O, Adim SB, Gurel S, Dolar E, Memik F. Periampullary carcinomas. Hepatogastroenterology . 2007 Jun. 54(76):1247-9. . Fernandes DD, Galwa RP, Fasih N, Fraser-Hill M. Cross-sectional Imaging

2014 eMedicine.com

4. Malignant Neoplasms of the Small Intestine (Overview)

. An overview of adenocarcinoma of the small intestine. Oncology (Huntingt) . 1997 Apr. 11(4):529-36; discussion 545, 549-50. . Rodriguez-Bigas MA, Vasen HF, Lynch HT, et al. Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC. Cancer . 1998 Jul 15. 83(2):240-4. . Sturgeon C, Chejfec G, Espat NJ. Gastrointestinal stromal tumors: a spectrum of disease. Surg Oncol . 2003 Jul. 12(1):21-6. . Suster S. Gastrointestinal stromal (...) mismatch repair in small bowel adenocarcinoma in celiac disease. Cancer Res . 2004 Oct 1. 64(19):7073-7. . Hemminki A. Inherited predisposition to gastrointestinal cancer: The molecular backgrounds of Peutz-Jeghers syndrome and hereditary nonpolyposis colorectal cancer . University of Helsinki; 1998. Filiz G, Yerci O, Adim SB, Gurel S, Dolar E, Memik F. Periampullary carcinomas. Hepatogastroenterology . 2007 Jun. 54(76):1247-9. . Fernandes DD, Galwa RP, Fasih N, Fraser-Hill M. Cross-sectional Imaging

2014 eMedicine.com

5. Malignant Neoplasms of the Small Intestine (Treatment)

carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC. Cancer . 1998 Jul 15. 83(2):240-4. . Sturgeon C, Chejfec G, Espat NJ. Gastrointestinal stromal tumors: a spectrum of disease. Surg Oncol . 2003 Jul. 12(1):21-6. . Suster S. Gastrointestinal stromal tumors. Semin Diagn Pathol . 1996 Nov. 13(4):297-313. . Talamonti MS, Goetz LH, Rao S, Joehl RJ. Primary cancers of the small bowel: analysis of prognostic factors and results of surgical management. Arch (...) -Jeghers syndrome and hereditary nonpolyposis colorectal cancer . University of Helsinki; 1998. Filiz G, Yerci O, Adim SB, Gurel S, Dolar E, Memik F. Periampullary carcinomas. Hepatogastroenterology . 2007 Jun. 54(76):1247-9. . Fernandes DD, Galwa RP, Fasih N, Fraser-Hill M. Cross-sectional Imaging of Small Bowel Malignancies. Can Assoc Radiol J . 2011 Aug 26. . Sieg A. Capsule endoscopy compared with conventional colonoscopy for detection of colorectal neoplasms. World J Gastrointest Endosc . 2011 May

2014 eMedicine.com

6. Malignant Neoplasms of the Small Intestine (Follow-up)

in small bowel adenocarcinoma in celiac disease. Cancer Res . 2004 Oct 1. 64(19):7073-7. . Hemminki A. Inherited predisposition to gastrointestinal cancer: The molecular backgrounds of Peutz-Jeghers syndrome and hereditary nonpolyposis colorectal cancer . University of Helsinki; 1998. Filiz G, Yerci O, Adim SB, Gurel S, Dolar E, Memik F. Periampullary carcinomas. Hepatogastroenterology . 2007 Jun. 54(76):1247-9. . Fernandes DD, Galwa RP, Fasih N, Fraser-Hill M. Cross-sectional Imaging of Small Bowel (...) of the small intestine. Oncology (Huntingt) . 1997 Apr. 11(4):529-36; discussion 545, 549-50. . Rodriguez-Bigas MA, Vasen HF, Lynch HT, et al. Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC. Cancer . 1998 Jul 15. 83(2):240-4. . Sturgeon C, Chejfec G, Espat NJ. Gastrointestinal stromal tumors: a spectrum of disease. Surg Oncol . 2003 Jul. 12(1):21-6. . Suster S. Gastrointestinal stromal tumors. Semin Diagn Pathol . 1996

2014 eMedicine.com

7. Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries Full Text available with Trip Pro

Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries Approximately one-third of individuals diagnosed with colorectal cancer have a family history of cancer, suggesting that CRCs may result from a heritable component. Despite the availability of current gene-identification techniques, only 5% of all CRCs emerge from well-identifiable inherited causes for predisposition, including polyposis and nonpolyposis syndromes. Hereditary nonpolyposis (...) colorectal cancer represents a large proportion of cases, and robustly affected patients are at increased risk for early onset, synchronous, and metachronous colorectal malignancies and extracolonic malignancies. HNPCC encompasses several cancer syndromes, such as Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X, which have remarkable clinical presentations and overlapping genetic profiles that make clinical diagnosis a challenging task. Therefore, distinguishing between

2018 Journal of oncology

8. MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques Full Text available with Trip Pro

MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques Over the past two decades, 33 cases of colonic adenocarcinomas have been diagnosed in rhesus macaques (Macaca mulatta) at the nonhuman primate colony of the Keeling Center for Comparative Medicine and Research at The University of Texas MD Anderson Cancer Center. The distinctive feature in these cases, based on PET/computed tomography (CT) imaging, was the presence of two or three tumor lesions in different (...) clusters of affected animals related to each other over several generations, suggesting an autosomal dominant transmission of susceptibility for colon cancer. The newly discovered hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques, termed MLH1-rheMac, may serve as a model for development of novel approaches to diagnosis and therapy of Lynch syndrome in humans.Copyright © 2018 the Author(s). Published by PNAS.

2018 Proceedings of the National Academy of Sciences of the United States of America

9. Guidelines for the management of hereditary colorectal cancer

neoplasia. ATZ: anal transitional zone. BSG: British Society of Gastroenterology. BSGM: British society of genetic medicine. CHRPE: congenital hypertrophy retinal pigmentation epithelium. CI: confidence intervals. COX-2: Cyclooxygenase-2 . CRC: colorectal cancer. CSSC: Clinical Services and Standards Committee. EHTG: European Hereditary Tumour Group. EOCRC: Early onset CRC. ESGE: European Society of Gastrointestinal Endoscopy. FAP: Familial adenomatous polyposis. FDR: First-degree relative. FH: family (...) history. FHCC: family history of colorectal cancer. FIT: Faecal immunohistochemical test. HHT: hereditary haemorrhagic telangiectasia. GRADE: Grading of Recommendations, Assessment, Development and Evaluations. HNPCC: Hereditary non-polyposis CRC. IPAA: Ileal pouch anal anastomosis. IRA: Ileorectal anastomosis. INSIGHT: International Society for Inherited Gastrointestinal Hereditary Tumours. JPS: Juvenile polyposis syndrome. KPI: Key performance indicators. LS: Lynch syndrome. MAP: MUTYH-associated

2019 British Society of Gastroenterology

10. Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer

and could be considered for inclusion in the evidence base. As a second stage, the focus was on locating and evaluating primary literature not already covered in any existing systematic reviews. PubMed was used to systematically search for articles evaluating the clinical utility of germline and somatic tumor testing in ovarian cancer, again between 2007 and March 23, 2018. The search combined disease-specific terms (neoplasm, carcinoma, cancer) along with site-specific terms (ovary, ovarian) and gene (...) status determined using the Myriad Genetics myChoice CDx as either tumor BRCA mutated and/or a genomic instability score ≥ 42. Patients with HRD-positive cancers but without BRCA mutations must have experienced progression at least 6 months after the last dose of platinum-based therapy (ie, must have platinum-sensitive disease). The value of testing for the mismatch repair (MMR) phenotype is the tissue-agnostic FDA approval of pembrolizumab for patients with microsatellite instability–high (MSI-H

2020 American Society of Clinical Oncology Guidelines

11. Pancreaticoduodenectomy for locally advanced colon cancer in hereditary nonpolyposis colorectal cancer Full Text available with Trip Pro

Pancreaticoduodenectomy for locally advanced colon cancer in hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch syndrome, accounts for 3% of newly diagnosed cases of colorectal cancer. While a partial or subtotal colectomy is indicated for early stage disease, there is a paucity of data addressing locally advanced disease involving the foregut.We report two patients with hereditary nonpolyposis colorectal cancer presenting with locally advanced (...) colon cancer surgically managed by pancreaticoduodenectomy with en bloc partial colectomy and a review of the literature.Locally advanced colorectal cancer in HNPCC is a rare clinical entity that requires special surgical consideration. Multidisciplinary treatment, including multi-visceral resection, offers the best long-term outcome.

2016 World journal of surgical oncology

12. Hereditary Gastrointestinal Cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up

): pembrolizumab for any MMR-deficient solid tumour and nivolumab for colorectal MMR- deficient tumours [15, 16]. Familial colorectal cancer X syndrome This syndrome represents up to 40% of families who fulfil the Amsterdam criteria for hereditary non-polyposis colon cancer (HNPCC) but do not harbour a tumour MMR deficiency or an underlying germline MMR gene alteration [35]. Risk of cancer in these families seems to be limited to the colorectum, and colonoscopy surveillance at 3–5-year intervals, starting (...) polyposis and colorectal cancer. Nat Genet 2015; 47: 668-671. 54. Moreira L, Pellise M, Carballal S et al. High prevalence of serrated polyposis syndrome in FIT-based colorectal cancer screening programmes. Gut 2013; 62: 476-477. 55. Carballal S, Rodriguez-Alcalde D, Moreira L et al. Colorectal cancer risk factors in patients with serrated polyposis syndrome: a large multicentre study. Gut 2016; 65: 1829- 1837. 56. Bosman F, Carneiro F, Hruban R, Theise N. WHO classification of tumours of the digestive

2019 European Society for Medical Oncology

13. Hereditary Nonpolyposis Colorectal Cancer

of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer. Concepts Neoplastic Process ( T191 ) MSH English (...) Colorectal Neoplasms, Hereditary Nonpolyposis , COLORECTAL NEOPL HEREDITARY NONPOLYPOSIS , HEREDITARY NONPOLYPOSIS COLORECTAL NEOPL , Colorectal Neoplasms, Hereditary Nonpolyposis [Disease/Finding] , Familial Nonpolyposis Colon Cancer , Hereditary Nonpolyposis Colorectal Neoplasms Swedish Icke-polypos kolorektalcancer, ärftlig Czech kolorektální nádory dědičné nepolypózní Finnish Periytyvä ei-polypoottinen paksusuolisyöpä Russian KOLOREKTAL'NYE NOVOOBRAZOVANIIA NASLEDSTVENNYE NEPOLIPOZNYE

2018 FP Notebook

14. Hereditary Nonpolyposis Colorectal Cancer

of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer. Concepts Neoplastic Process ( T191 ) MSH English (...) Colorectal Neoplasms, Hereditary Nonpolyposis , COLORECTAL NEOPL HEREDITARY NONPOLYPOSIS , HEREDITARY NONPOLYPOSIS COLORECTAL NEOPL , Colorectal Neoplasms, Hereditary Nonpolyposis [Disease/Finding] , Familial Nonpolyposis Colon Cancer , Hereditary Nonpolyposis Colorectal Neoplasms Swedish Icke-polypos kolorektalcancer, ärftlig Czech kolorektální nádory dědičné nepolypózní Finnish Periytyvä ei-polypoottinen paksusuolisyöpä Russian KOLOREKTAL'NYE NOVOOBRAZOVANIIA NASLEDSTVENNYE NEPOLIPOZNYE

2018 FP Notebook

15. Frequency of hematologic and solid malignancies in the family history of 50 patients with acute myeloid leukemia - a single center analysis. Full Text available with Trip Pro

. We analyzed the pedigrees for cancer syndromes that can be associated with acute leukemia like Li-Fraumeni syndrome, Lynch syndrome and hereditary breast cancer. 2/50 (4%) patients fulfilled the criteria for familial breast and ovarian cancer from the German consortium and 1/50 (2%) patients fulfilled the Bethesda Guidelines criteria for hereditary nonpolyposis colorectal cancer. No pedigree met the criteria for Li-Fraumeni syndrome. In 29 cases we compared the patient history obtained (...) in the routine work-up with our data. The accuracy of the obtained family history was 23%, outlining that in the clinical routine information about family histories often escapes notice.Our study shows that though generally considered a sporadic disease, the presence of hematologic and solid malignancies in the family history of AML patients is relatively high. One should keep in mind that cancer syndromes like hereditary breast cancer are associated with a higher incidence of leukemia. These data

2019 PLoS ONE

16. Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes nature publishing group 223 © 2015 by the American College of Gastroenterology The American Journal of GASTROENTEROLOGY PRACTICE GUIDELINES H e r e di t a r y gastr o in t e stinal (GI) ca ncer syndr o mes r e p r es en t a phenotypically diverse group of disorders that exhibit distinct patterns of inheritance in an individual’s progeny. Over the past few decades, the expansion of familial cancer registries and ad (...) - vancement in genomics have led to the development of clinical diagnostic criteria for specifi c hereditary syndromes as well as the discovery of multiple genes in which germline mutations predispose individuals to syndrome-associated neoplastic mani- festations. Th is guideline fi rst discusses essential elements of a patient’s personal and family history that allow for risk assess- ment for potential inherited cancer susceptibility. It then ad- dresses the currently most well-characterized GI cancer

2015 American College of Gastroenterology

17. A Study of Imaging, Blood, and Tissue Samples to Guide Treatment of Colon Cancer and Related Liver Tumors

for presumed stage I-IV colon cancer including colectomy, hepatectomy, or abdominal surgery (e.g. insertion of HAIP) Colectomy for presumed benign or pre-malignant colon tumors (e.g. large nonneoplastic polyps or adenomas) Open, laparoscopic, or robotic resections ≥18 years old Exclusion Criteria: Extrahepatic CRC metastasis No preoperative portal venous phase CT scan performed up to two months prior to day of surgery Pathology demonstrating a malignant tumor other than colorectal adenocarcinoma. Stage IV (...) information Studies a U.S. FDA-regulated Drug Product: No Studies a U.S. FDA-regulated Device Product: No Keywords provided by Memorial Sloan Kettering Cancer Center: Tissue samples 17-594 Additional relevant MeSH terms: Layout table for MeSH terms Colonic Neoplasms Liver Neoplasms Colorectal Neoplasms Intestinal Neoplasms Gastrointestinal Neoplasms Digestive System Neoplasms Neoplasms by Site Neoplasms Digestive System Diseases Gastrointestinal Diseases Colonic Diseases Intestinal Diseases Liver Diseases

2018 Clinical Trials

18. Hereditary Colorectal Cancer Syndromes Endorsement of the Familial Risk?Colorectal Cancer ESMO Guideline Full Text available with Trip Pro

cancer syndromes in patients with CRC should include review of personal and family histories and testing of tumors for DNA mismatch repair deficiency and/or microsatellite instability. Formal genetic evaluation is recommended for individuals who meet defined criteria. INTRODUCTION Section: Approximately 5% to 6% of all colorectal cancers (CRCs) are associated with germline mutations that confer an inherited predisposition to CRC. Timely identification of individuals at risk for hereditary CRC (...) screening approach seems reasonable; however, it will be important to evaluate the feasibility and effectiveness of this strategy in clinical practice. The ASCO endorsement panel notes that the Evaluation of Genomic Applications in Practice and Prevention Working Group and the National Society of Genetic Counselors and Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA) joint practice guideline recommends all CRC tumors be screened for MMR deficiency and does not specify an age

2014 American Society of Clinical Oncology Guidelines

19. DNA Methylation Identifies Loci Distinguishing Hereditary Nonpolyposis Colorectal Cancer Without Germ-Line MLH1/MSH2 Mutation from Sporadic Colorectal Cancer Full Text available with Trip Pro

DNA Methylation Identifies Loci Distinguishing Hereditary Nonpolyposis Colorectal Cancer Without Germ-Line MLH1/MSH2 Mutation from Sporadic Colorectal Cancer Roughly half of hereditary nonpolyposis colorectal cancer (HNPCC) cases are Lynch syndrome and exhibit germ-line mutations in DNA mismatch repair (MMR) genes; the other half are familial colorectal cancer (CRC) type X (FCCTX) and are MMR proficient. About 70% of Lynch syndrome tumors have germ-line MLH1 or MSH2 mutations. The clinical (...) presentation, histopathological features, and carcinogenesis of FCCTX resemble those of sporadic MMR-proficient colorectal tumors. It is of interest to obtain biomarkers that distinguish FCCTX from sporadic microsatellite stable (MSS) CRC, to develop preventive strategies.The tumors and adjacent normal tissues of 40 patients with HNPCC were assayed using the Illumina Infinium HumanMethylation27 (HM27) BeadChip to assess the DNA methylation level at about 27,000 loci. The germ-line mutation status of MLH1

2016 Clinical and translational gastroenterology

20. Genetics of Colorectal Cancer (PDQ®): Health Professional Version

Syndromes: A Primer on Diagnosis and Management. Am J Gastroenterol 112 (10): 1509-1525, 2017. [ ] Lynch HT, Smyrk TC, Watson P, et al.: Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology 104 (5): 1535-49, 1993. [ ] Rustgi AK: The genetics of hereditary colon cancer. Genes Dev 21 (20): 2525-38, 2007. [ ] Howe JR, Mitros FA, Summers RW: The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg (...) and hereditary nonpolyposis colorectal cancer). Dis Colon Rectum 46 (8): 1001-12, 2003. [ ] National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Colorectal. Version 2.2019. Plymouth Meeting, PA: National Comprehensive Cancer Network, 2019. Last accessed October 15, 2019. Syngal S, Brand RE, Church JM, et al.: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 110 (2

2018 PDQ - NCI's Comprehensive Cancer Database

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