Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer.

PubWeight™: 8.41‹?› | Rank: Top 0.1%

🔗 View Article (PMID 10784581)

Published in Gastroenterology on May 01, 2000


H J Järvinen1, M Aarnio, H Mustonen, K Aktan-Collan, L A Aaltonen, P Peltomäki, A De La Chapelle, J P Mecklin

Author Affiliations

1: Second Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland.

Articles citing this

(truncated to the top 100)

Molecular origins of cancer: Molecular basis of colorectal cancer. N Engl J Med (2009) 10.01

Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives. Am J Bioeth (2012) 7.50

Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol (2008) 5.47

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med (2009) 4.79

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet (2007) 4.62

Hereditary and familial colon cancer. Gastroenterology (2010) 4.15

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet (2009) 3.99

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med (2009) 3.57

Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis. Ann Intern Med (2011) 3.52

New insights into the aetiology of colorectal cancer from genome-wide association studies. Nat Rev Genet (2009) 3.22

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol (2015) 3.19

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86

Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res (Phila) (2010) 2.86

Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. Clin Gastroenterol Hepatol (2010) 2.50

Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study. Gastroenterology (2007) 2.39

The complexities of predictive genetic testing. BMJ (2001) 2.36

Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory. Clin Genet (2014) 2.33

Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery. Gut (2010) 2.30

Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis. Am J Pathol (2001) 2.29

Prevention of colorectal cancer by colonoscopic surveillance in individuals with a family history of colorectal cancer: 16 year, prospective, follow-up study. BMJ (2005) 2.26

NSAIDs modulate CDKN2A, TP53, and DNA content risk for progression to esophageal adenocarcinoma. PLoS Med (2007) 2.23

Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol (2012) 2.22

Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome. Dtsch Arztebl Int (2013) 2.09

Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. J Med Genet (2004) 1.96

Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine. CA Cancer J Clin (2011) 1.90

The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology (2010) 1.88

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. Gastroenterology (2015) 1.84

Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Fam Cancer (2007) 1.82

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet (2003) 1.80

Aspirin, Ibuprofen, and the Risk of Colorectal Cancer in Lynch Syndrome. J Natl Cancer Inst (2015) 1.77

Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome. Gut (2002) 1.77

Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. Am J Pathol (2003) 1.67

Microsatellite instability and DNA mismatch repair protein deficiency in Lynch syndrome colorectal polyps. Cancer Prev Res (Phila) (2012) 1.65

Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy. Am J Gastroenterol (2009) 1.62

Long term follow-up of HNPCC gene mutation carriers: compliance with screening and satisfaction with counseling and screening procedures. Fam Cancer (2005) 1.58

Abnormal oral mucosal light reflectance: a new clinical marker of high risk for colorectal cancer. Gut (2006) 1.58

The incidence of Lynch syndrome. Fam Cancer (2005) 1.56

Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat (2013) 1.55

Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect. Gut (2003) 1.55

Selective Versus Universal Screening for Lynch Syndrome: A Six-Year Clinical Experience. Dig Dis Sci (2014) 1.50

Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer. J Mol Diagn (2007) 1.48

Adrenocortical carcinoma. Endocr Rev (2013) 1.46

Development and evaluation of a brief self-completed family history screening tool for common chronic disease prevention in primary care. Br J Gen Pract (2013) 1.45

Colorectal cancer incidence trends in the United States and United kingdom: evidence of right- to left-sided biological gradients with implications for screening. Cancer Res (2010) 1.42

Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Fam Cancer (2009) 1.38

Cost effectiveness of a new strategy to identify HNPCC patients. Gut (2005) 1.38

Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer. Gut (2002) 1.38

Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation. Gut (2002) 1.38

Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting. Genet Med (2011) 1.37

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet (2010) 1.30

Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. J Clin Oncol (2014) 1.26

Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2. J Clin Oncol (2008) 1.23

Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update. Int J Cancer (2013) 1.21

Cancer risk in Lynch Syndrome. Fam Cancer (2013) 1.19

Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1. J Med Genet (2006) 1.18

An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal cancer. Genet Med (2003) 1.18

BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome. Am J Surg Pathol (2013) 1.16

Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. Cancer Res (2009) 1.14

Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer. Br J Cancer (2004) 1.13

Colorectal carcinogenesis: road maps to cancer. World J Gastroenterol (2007) 1.12

Current hypotheses on how microsatellite instability leads to enhanced survival of Lynch Syndrome patients. Clin Dev Immunol (2010) 1.12

Abnormal vascular network complexity: a new phenotypic marker in hereditary non-polyposis colorectal cancer syndrome. Gut (2003) 1.11

Missed adenomas during colonoscopic surveillance in individuals with Lynch Syndrome (hereditary nonpolyposis colorectal cancer). Cancer Prev Res (Phila) (2008) 1.11

Rapid development of colorectal neoplasia in patients with Lynch syndrome. Clin Gastroenterol Hepatol (2010) 1.11

Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels. BMC Med Genet (2009) 1.10

Family history of colorectal cancer in a Sweden county. Fam Cancer (2003) 1.09

Prevalence and incidence of hyperplastic polyps and adenomas in familial colorectal cancer: correlation between the two types of colon polyps. Gut (2003) 1.06

Inherited colorectal cancer syndromes. Cancer J (2011) 1.06

Narrow-band imaging of the gastrointestinal tract. J Gastroenterol (2009) 1.05

Hereditary nonpolyposis colorectal cancer family members' perceptions about the duty to inform and health professionals' role in disseminating genetic information. Genet Test (2005) 1.05

Pathology of the hereditary colorectal carcinoma. Fam Cancer (2007) 1.04

Patient compliance based on genetic medicine: a literature review. J Community Genet (2013) 1.04

Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model. CMAJ (2009) 1.03

Prevalence and predictors of appropriate colorectal cancer surveillance in Lynch syndrome. Am J Gastroenterol (2010) 1.03

Communication, encouragement, and cancer screening in families with and without mutations for hereditary nonpolyposis colorectal cancer: a pilot study. Genet Med (2009) 1.03

Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma. Gut (2005) 1.03

Familial colorectal cancer, beyond Lynch syndrome. Clin Gastroenterol Hepatol (2013) 1.03

Adrenocortical carcinoma is a lynch syndrome-associated cancer. J Clin Oncol (2013) 1.02

Improving the quality of colorectal cancer screening: assessment of familial risk. Dig Dis Sci (2010) 1.00

Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through. Genet Med (2014) 1.00

Lynch syndrome: barriers to and facilitators of screening and disease management. Hered Cancer Clin Pract (2011) 1.00

A randomized trial to increase colonoscopy screening in members of high-risk families in the colorectal cancer family registry and cancer genetics network. Cancer Epidemiol Biomarkers Prev (2014) 0.99

Quality colonoscopy and risk of interval cancer in Lynch syndrome. Int J Colorectal Dis (2013) 0.99

The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study. Eur J Hum Genet (2010) 0.98

Most patients with colorectal tumors at young age do not visit a cancer genetics clinic. Dis Colon Rectum (2008) 0.98

Colorectal pretumor progression before and after loss of DNA mismatch repair. Am J Pathol (2004) 0.97

Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing. J Med Genet (2007) 0.97

Early detection of and screening for colorectal neoplasia. Gut Liver (2009) 0.97

Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas. J Mol Diagn (2009) 0.96

Prognosis in DNA mismatch repair deficient colorectal cancer: are all MSI tumours equivalent? Fam Cancer (2004) 0.96

A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory. J Cell Mol Med (2009) 0.96

Colonoscopy surveillance of individuals at risk of familial colorectal cancer. Gut (2003) 0.96

Colorectal cancer risk perception on the basis of genetic test results in individuals at risk for Lynch syndrome. J Clin Oncol (2009) 0.96

Oncologists' and cancer patients' views on whole-exome sequencing and incidental findings: results from the CanSeq study. Genet Med (2016) 0.95

Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management. Front Oncol (2015) 0.95

History, genetics, and strategies for cancer prevention in Lynch syndrome. Clin Gastroenterol Hepatol (2013) 0.95

Importance of postpolypectomy surveillance and postpolypectomy compliance to follow-up screening--review of literature. Int J Colorectal Dis (2008) 0.94

Recently identified colon cancer predispositions: MYH and MSH6 mutations. Semin Oncol (2007) 0.94

How much colonoscopy screening should be recommended to individuals with various degrees of family history of colorectal cancer? Cancer (2011) 0.93

Risk assessment, genetic testing, and management of Lynch syndrome. J Natl Compr Canc Netw (2010) 0.92

Articles by these authors

Clues to the pathogenesis of familial colorectal cancer. Science (1993) 14.52

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology (1999) 11.94

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell (1993) 9.93

The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum (1991) 9.82

Aberrant CpG-island methylation has non-random and tumour-type-specific patterns. Nat Genet (2000) 8.58

Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med (1998) 8.47

Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science (1998) 7.08

Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73

Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history. Cancer Res (1993) 4.93

Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med (1996) 4.87

Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet (1997) 4.27

Genetic mapping of a locus predisposing to human colorectal cancer. Science (1993) 4.12

Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet (1995) 4.01

Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol (2000) 3.98

Gender differences in alcohol consumption and adverse drinking consequences: cross-cultural patterns. Addiction (2000) 3.85

Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology (1995) 3.45

Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A (2001) 3.31

Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res (1994) 3.25

Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy. Gastroenterology (2000) 3.01

Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer (1995) 2.85

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet (2004) 2.75

Loss-of-function mutations in PPAR gamma associated with human colon cancer. Mol Cell (1999) 2.71

Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology (1996) 2.60

DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis. Hum Mol Genet (2001) 2.50

Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res (1993) 2.48

Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med (1995) 2.40

Differential gene expression in colon cancer of the caecum versus the sigmoid and rectosigmoid. Gut (2005) 2.13

Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Res (2001) 2.12

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet (2004) 2.10

Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat Genet (1994) 2.08

Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol (2000) 2.03

Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study. J Clin Oncol (2001) 1.97

Microsatellite instability as an indicator of hereditary susceptibility to colon cancer. Gastroenterology (1995) 1.97

Age-related hypermethylation of the 5' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development. Cancer Res (2001) 1.93

The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer. Gynecol Oncol (2001) 1.84

MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chromosomes Cancer (1997) 1.83

Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome. Oncogene (2000) 1.83

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet (2001) 1.81

Clinical features of colorectal carcinoma in cancer family syndrome. Dis Colon Rectum (1986) 1.79

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Hum Mol Genet (1999) 1.79

LKB1 somatic mutations in sporadic tumors. Am J Pathol (1999) 1.79

Semiautomated assessment of loss of heterozygosity and replication error in tumors. Cancer Res (1996) 1.77

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am J Hum Genet (2002) 1.77

Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors. Cancer Res (1998) 1.75

p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. Cancer Res (2001) 1.74

Diagnostic cancer genome sequencing and the contribution of germline variants. Science (2013) 1.65

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet (1996) 1.64

Genetic reconstruction of individual colorectal tumor histories. Proc Natl Acad Sci U S A (2000) 1.63

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer. Br J Cancer (2009) 1.62

Increased risk of cancer in patients with fumarate hydratase germline mutation. J Med Genet (2005) 1.61

Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet (1996) 1.58

Impact of clinical symptoms and referral volume on endoscopy for detecting peptic ulcer and gastric neoplasms. Scand J Gastroenterol (2003) 1.57

LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. J Med Genet (2006) 1.56

Comparison of CA 19-9 and carcinoembryonic antigen (CEA) levels in the serum of patients with colorectal diseases. Br J Cancer (1984) 1.56

The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability. Nat Genet (1999) 1.56

Molecular genetic changes in human male germ cell tumors. Lab Invest (1995) 1.53

Colorectal adenoma and cancer divergence. Evidence of multilineage progression. Am J Pathol (1999) 1.50

Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int J Cancer (2000) 1.49

Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC. Cancer (1998) 1.48

Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Res (1997) 1.47

Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol (2001) 1.46

The I1307K polymorphism of the APC gene in colorectal cancer. Gastroenterology (1999) 1.43

Serrated carcinomas form a subclass of colorectal cancer with distinct molecular basis. Oncogene (2006) 1.43

Deletion of 1p loci and microsatellite instability in colorectal polyps. Genes Chromosomes Cancer (1995) 1.43

Clonidine premedication improves metabolic control in type 2 diabetic patients during ophthalmic surgery. Br J Anaesth (2003) 1.42

Gene expression signatures for colorectal cancer microsatellite status and HNPCC. Br J Cancer (2005) 1.40

Dysregulation of the transcription factors SOX4, CBFB and SMARCC1 correlates with outcome of colorectal cancer. Br J Cancer (2009) 1.40

Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer. Am J Pathol (1999) 1.38

Nuclear and mitochondrial genome instability in human breast cancer. Cancer Res (2000) 1.38

Genetics of hereditary colon cancer. Annu Rev Genet (1995) 1.36

A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden. Cancer Detect Prev (1994) 1.36

The MDM2 promoter polymorphism SNP309T-->G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck. J Med Genet (2005) 1.34

Follow-up of patients operated on for colorectal carcinoma. Am J Surg (1990) 1.33

Somatic microsatellite mutations as molecular tumor clocks. Nat Med (1996) 1.31