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Hereditary Nonpolyposis Colorectal Cancer

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1. Tobacco use and increased colorectal cancer risk in patients with hereditary nonpolyposis colorectal cancer (Lynch syndrome). (PubMed)

Tobacco use and increased colorectal cancer risk in patients with hereditary nonpolyposis colorectal cancer (Lynch syndrome). The marked variability in age at onset of colorectal cancer (CRC) in patients with hereditary nonpolyposis colorectal cancer (HNPCC) makes management decisions difficult. Environmental factors governing the phenotypic variability of cancer-associated syndromes such as HNPCC have not been elucidated.We determined whether tobacco use would alter CRC risk in carriers (...) of HNPCC-associated mutations, using a retrospective cohort study of germline mutation (hMLH1 or hMSH2) carriers from the Hereditary Cancer Institute at Creighton University, one of the oldest and largest registries of HNPCC patients. The main outcome measure was age at CRC onset, estimated by means of Cox proportional hazards modeling.Tobacco use, hMLH1 mutation carriage (as opposed to hMSH2), and male sex were significantly associated with increased risk of CRC (hazard ratios, 1.43, 2.07, and 1.58

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2017 Archives of Internal Medicine

2. Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries (PubMed)

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

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2018 Journal of oncology

3. MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques (PubMed)

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.

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

4. DNA Methylation Identifies Loci Distinguishing Hereditary Nonpolyposis Colorectal Cancer Without Germ-Line MLH1/MSH2 Mutation from Sporadic Colorectal Cancer (PubMed)

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

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2016 Clinical and translational gastroenterology

5. Guidelines for the management of hereditary colorectal cancer

Guidelines for the management of hereditary colorectal cancer Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/ Association of Coloproctologists of Great Britain and Ireland (ACPGBI)/ United Kingdom Cancer Genetics Group (UKCGG) Authors *Kevin J Monahan, BSG, Consultant Gastroenterologist, Family Cancer Clinic, St Marks Hospital, Harrow, London; Department of Surgery and Cancer, Imperial College, London. Malcolm Dunlop, ACPGBI (...) 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

2019 British Society of Gastroenterology

6. Pancreaticoduodenectomy for locally advanced colon cancer in hereditary nonpolyposis colorectal cancer (PubMed)

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.

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2016 World journal of surgical oncology

7. The mRNA level of MLH1 in peripheral blood is a biomarker for the diagnosis of hereditary nonpolyposis colorectal cancer (PubMed)

The mRNA level of MLH1 in peripheral blood is a biomarker for the diagnosis of hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by functional defects in mismatch repair (MMR) genes, including mutL homolog 1 (MLH1) and mutS homolog 2 (MSH2). This study aimed to assess whether the mRNA expression of MLH1 in peripheral blood could be used as a biomarkers for the diagnosis of HNPCC. The mRNA level of MLH1 was determined in 19 HNPCC families (46

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2016 American journal of cancer research

8. Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Cancer Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 (...) Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Cancer Aka: Hereditary Nonpolyposis Colorectal Cancer , Hereditary Non-polyposis Colorectal Cancer , Lynch Syndrome , HNPCC From Related Chapters II. Epidemiology : 1 in 440 persons (U.S.) Diagnosed on average by age 45 years Lifetime risk: 75-80% condition III. Pathophysiology Rapid progression from advanced adenoma to IV. Associated Conditions HNPCC is the most common cause of inherited (2-4% of cases) (subset of families) V

2018 FP Notebook

9. Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Cancer Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 (...) Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Cancer Aka: Hereditary Nonpolyposis Colorectal Cancer , Hereditary Non-polyposis Colorectal Cancer , Lynch Syndrome , HNPCC From Related Chapters II. Epidemiology : 1 in 440 persons (U.S.) Diagnosed on average by age 45 years Lifetime risk: 75-80% condition III. Pathophysiology Rapid progression from advanced adenoma to IV. Associated Conditions HNPCC is the most common cause of inherited (2-4% of cases) (subset of families) V

2018 FP Notebook

10. Primary Pericardial Sarcoma with Right Atrial Invasion and Multiple Bilateral Pulmonary Metastases in a Patient with Hereditary Nonpolyposis Colorectal Cancer (PubMed)

Primary Pericardial Sarcoma with Right Atrial Invasion and Multiple Bilateral Pulmonary Metastases in a Patient with Hereditary Nonpolyposis Colorectal Cancer Primary tumours originating from the pericardium are extremely rare. Previous studies have reported that these tumours account for only 6.7-12.8% of all mediastinal tumours with an overall prevalence of 0.001% to 0.007%. The majority of these tumours are benign lipomas or pericardial cysts. The most common pericardial malignancy

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2016 Case reports in oncological medicine

11. Hereditary Colorectal Cancer Syndromes Endorsement of the Familial Risk?Colorectal Cancer ESMO Guideline

, JP Terdiman , etal: Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96: 261 – 268 , 2004 , , 4. H Hampel , WL Frankel , E Martin , etal: Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer) N Engl J Med 352: 1851 – 1860 , 2005 , , 5. V Piñol , A Castells , M Andreu , etal: Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry (...) for the identification of patients with hereditary nonpolyposis colorectal cancer JAMA 293: 1986 – 1994 , 2005 , , 6. M Aarnio , JP Mecklin , LA Aaltonen , etal: Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome Int J Cancer 64: 430 – 433 , 1995 , , 7. E Stoffel , B Mukherjee , VM Raymond , etal: Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome Gastroenterology 137: 1621 – 1627 , 2009 , , 8. AK Win , JP Young , NM Lindor

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2014 American Society of Clinical Oncology Guidelines

12. Colorectal Cancer Screening: Recommendations for Physicians and Patients from the U.S. Multi-Society Task Force on Colorectal Cancer 2

recommendations for screening in persons with Lynch syndrome ( 34 ), which is a genetically defi ned inherited syndrome caused by mutations in 1 or more mismatch repair genes. Patients in families that meet the clinical criteria for hereditary nonpolyposis CRC but have microsatellite-stable CRCs have family colon cancer syndrome X, which has not been genetically defi ned ( 122 ). Persons in families with syndrome X should undergo colonoscopy at least every 3 to 5 years, beginning 10 years before the age (...) Colorectal Cancer Screening: Recommendations for Physicians and Patients from the U.S. Multi-Society Task Force on Colorectal Cancer 2 1 © 2017 by the American College of Gastroenterology The American Journal of GASTROENTEROLOGY CLINICAL GUIDELINES Colorectal cancer (CRC) screening is the process of detecting early-stage CRCs and precancerous lesions in asymptomatic peo- ple with no prior history of cancer or precancerous lesions. Th e U.S. Multi-Society Task Force of Colorectal Cancer (MSTF

2017 American College of Gastroenterology

13. The results of gynecologic surveillance in families with hereditary nonpolyposis colorectal cancer. (PubMed)

The results of gynecologic surveillance in families with hereditary nonpolyposis colorectal cancer. We aimed to estimate the incidence rate of endometrial cancer (EC) and to evaluate the results of EC-surveillance in hereditary nonpolyposis colorectal cancer (HNPCC) families.All at-risk women recommended for EC-surveillance by the HNPCC-register-2959 women (19,334women years)-were included. Data on EC-surveillance were available for 871 women (6894women years), who had performed 1945 (...) families (median age 64 (55-73) years, IR=0.06 and 0.05 per 100women years, respectively, p<.0001). Among the 871 surveilled women, 13 EC were found: 7/13 cases were diagnosed by surveillance examination-two as prevalent cancers, diagnosed at the first visit-and 6/13 based on symptoms. In addition, five complex atypical hyperplasias and four ovarian cancers (OCs) were diagnosed. All these women were MMR mutation carriers.Based on 19,334women years of EC-surveillance, our analysis provides a thorough

2014 Gynecologic Oncology

14. A cost-effectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) families

versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) families. Familial Cancer 2011; 10(3): 535-543 PubMedID DOI Original Paper URL Indexing Status Subject indexing assigned by NLM MeSH Adult; Aged; Colorectal Neoplasms, Hereditary Nonpolyposis /complications /economics /surgery; Cost-Benefit Analysis; Female; Follow-Up Studies; Genetic Predisposition to Disease; Genetic Testing; Genital Neoplasms, Female /diagnosis /economics /etiology /prevention (...) A cost-effectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) families A cost-effectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) families A cost-effectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) families Yang KY, Caughey

2012 NHS Economic Evaluation Database.

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

molecular tests for patients with colorectal cancer. JAMA Oncol 2018; 4: 806-813. 12. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999; 116: 1453-1456. 13. Umar A, Boland CR, Terdiman JP et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004 (...) concerns associated to each genetic susceptibility. These guidelines aim to summarise the evidence-based data on hereditary colorectal cancer (CRC), gastric cancer (GC) and pancreatic cancer (PC) and provide useful clinical recommendations for identification and management of patients with hereditary gastrointestinal cancers. HEREDITARY NON-POLYPOSIS COLORECTAL CANCER SYNDROME (LYNCH SYNDROME) Prevalence and penetrance LS accounts for 1%–3% of all CRC diagnoses [1]. It is caused by germline mutations

2019 European Society for Medical Oncology

16. Clinical Utility Card - Heritable mutations which increase risk in colorectal and endometrial cancer

actionable pathogenic mutation previously identified in a gene listed in Item XXXXX in a relative. MBS Fee: $400Benefit: 75% = $300, 85% = $340 7. Summary of Public Consultation Feedback/Consumer Issues A letter supporting this application was received from a professional organisation. 5 8. Proposed intervention’s place in clinical management FAP, JPS, Lynch syndrome (formerly known as hereditary nonpolyposis colorectal cancer (HNPCC)), PJS, HMPS and autosomal recessive colorectal adenomatous polyposis (...) An application requesting Medicare Benefits Schedule (MBS) listing for genetic testing to identify inheritable mutations predisposing to colorectal and endometrial cancer, specifically the identification of heritable mutations associated with the clinical presentations of Lynch Syndrome (LS), Familial Adenomatous Polyposis (FAP), MUTYH-Associated Polyposis (MAP), Juvenile Polyposis Syndrome (JPS), Peutz-Jeghers Syndrome (PJS), and Hereditary Mixed Polyposis Syndrome (HMPS), was received from the RCPA

2019 Medical Services Advisory Committee

17. Detecting hereditary nonpolyposis colorectal cancer syndrome (HNPCC) in patients with colorectal cancer (CRC): Optimal strategies at lower costs. (PubMed)

Detecting hereditary nonpolyposis colorectal cancer syndrome (HNPCC) in patients with colorectal cancer (CRC): Optimal strategies at lower costs.

2012 Journal of Clinical Oncology

18. Ureteroscopic management of upper tract urothelial carcinoma (UTUC) in patients with Lynch Syndrome (hereditary nonpolyposis colorectal cancer syndrome). (PubMed)

Ureteroscopic management of upper tract urothelial carcinoma (UTUC) in patients with Lynch Syndrome (hereditary nonpolyposis colorectal cancer syndrome). To report our experience with ureteroscopic laser ablation of upper tract urothelial carcinoma (UTUC) in patients with Lynch Syndrome (LS), as defined by a documented germline mutation in the MSH-2 gene. To increase awareness among urologists about UTUC in this unique patient population and refer to genetic counselling when (...) with reasonable cancer control in patients willing to undergo endoscopic surveillance. Development of new bladder tumours is common.© 2013 BJU International.

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2013 BJU international

19. Tumor-Based Screening for Hereditary Nonpolyposis Colorectal Cancer: Does Age-Based Selection Optimize Yield? (PubMed)

Tumor-Based Screening for Hereditary Nonpolyposis Colorectal Cancer: Does Age-Based Selection Optimize Yield? 23942917 2014 06 20 2018 12 02 1935-469X 9 4 2013 Jul Journal of oncology practice J Oncol Pract Tumor-based screening for hereditary nonpolyposis colorectal cancer: does age-based selection optimize yield? 180-1 10.1200/JOP.2012.000786 Lynch Patrick M PM eng Journal Article Comment 2013 04 02 United States J Oncol Pract 101261852 1554-7477 IM J Oncol Pract. 2013 Jul;9(4):175-9 23942916 (...) Colorectal Neoplasms, Hereditary Nonpolyposis diagnosis Early Detection of Cancer Humans Mass Screening 2013 8 15 6 0 2013 8 15 6 0 2014 6 21 6 0 ppublish 23942917 JOP.2012.000786 10.1200/JOP.2012.000786 PMC3710165 J Natl Compr Canc Netw. 2010 Jan;8(1):8-61 20064289 Lancet Oncol. 2009 Apr;10(4):400-8 19341971 J Clin Oncol. 2011 Jul 10;29(20):2773-80 21606427 JAMA. 2012 Oct 17;308(15):1555-65 23073952 J Oncol Pract. 2013 Jul;9(4):175-9 23942916 Gastroenterology. 2010 Jun;138(6):2073-2087.e3 20420947 N

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2013 Journal of Oncology Practice

20. Colorectal Cancer Screening

single-contrast Usually Not Appropriate ??? Variant 4: Colorectal cancer screening. High-risk individual. Hereditary nonpolyposis colorectal cancer; ulcerative colitis or Crohn colitis. Procedure Appropriateness Category Relative Radiation Level CT colonography Usually Not Appropriate ??? MR colonography Usually Not Appropriate O X-ray barium enema double-contrast Usually Not Appropriate ??? X-ray barium enema single-contrast Usually Not Appropriate ??? ACR Appropriateness Criteria ® 2 Colorectal (...) ), and 3) high risk (individuals with hereditary syndromes, such as hereditary nonpolyposis colorectal cancer (HNPCC), or a personal history of ulcerative colitis or Crohn colitis). Special Imaging Considerations Regarding CTC, adherence to the ACR practice parameter for performing CTC in adults is important for optimal test performance and should reduce the variability reported in earlier CTC studies [28]. For screening, a standard protocol should involve catharsis and tagging. If alternative

2018 American College of Radiology

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