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注意:仅列出部分参考文献,下载原文获取全部文献信息。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
GENETICS IN MEDICINE (2009)
Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer
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FAMILIAL CANCER (2008)
The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome
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INTERNATIONAL JOURNAL OF CANCER (2008)
Cost-effectiveness of surveillance programs for families at high and moderate risk of hereditary non-polyposis colorectal cancer
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INTERNATIONAL JOURNAL OF TECHNOLOGY ASSESSMENT IN HEALTH CARE (2007)
Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing
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JOURNAL OF MEDICAL GENETICS (2007)
Estimating cancer risk in HNPCC by the GRL method
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EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Risk reduction and health promotion behaviors following genetic testing for adult-onset disorders
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GENETIC TESTING (2007)
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer
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BRITISH JOURNAL OF CANCER (2007)
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MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY (2007)
The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing
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GENETICS IN MEDICINE (2007)
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JOURNAL OF CLINICAL ONCOLOGY (2007)
Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome
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INTERNATIONAL JOURNAL OF CANCER (2007)
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CURRENT OPINION IN OBSTETRICS & GYNECOLOGY (2007)
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
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JOURNAL OF MEDICAL GENETICS (2007)
Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer
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FAMILIAL CANCER (2007)
Hysteroscopic findings in women at risk of HNPCC. Results of a prospective observational study
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FAMILIAL CANCER (2007)
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ANNALS OF INTERNAL MEDICINE (2006)
Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer
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GUT (2006)
Commonly used preparations for colonoscopy: Efficacy, tolerability and safety - A Canadian Association of Gastroenterology position paper
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CANADIAN JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY (2006)
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GASTROINTESTINAL ENDOSCOPY (2006)
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JOURNAL OF CLINICAL ONCOLOGY (2006)
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CLINICAL GENETICS (2006)
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JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2006)
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WORLD JOURNAL OF GASTROENTEROLOGY (2006)
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JOURNAL OF MOLECULAR DIAGNOSTICS (2006)
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer
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NEW ENGLAND JOURNAL OF MEDICINE (2006)
Assessment of microsatellite instability in very small microdissected samples and in tumor samples that are contaminated with normal DNA
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DIAGNOSTIC MOLECULAR PATHOLOGY (2006)
Which is the optimal bowel preparation for colonoscopy - a meta-analysis
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COLORECTAL DISEASE (2006)
Cancer risks for mismatch repair gene mutation carriers: A population-based early onset case-family study
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CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2006)
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GASTROENTEROLOGY (2006)
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)
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GASTROENTEROLOGY (2006)
Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome
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NEW ENGLAND JOURNAL OF MEDICINE (2006)
Economic evaluation of the familial cancer programme in Western Australia: Predictive genetic testing for familial adenomatous polyposis and hereditary non-polyposis colorectal carcinoma
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COMMUNITY GENETICS (2006)
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FAMILIAL CANCER (2006)
Psychological impact of genetic testing for cancer susceptibility: An update of the literature
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PSYCHO-ONCOLOGY (2005)
Impact of genetic counseling and DNA testing on individuals with colorectal cancer with a positive family history: A population-based study
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GENETIC TESTING (2005)
Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer
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JOURNAL OF CLINICAL ONCOLOGY (2005)
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CLINICAL GENETICS (2005)
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CANCER (2005)
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BMJ-BRITISH MEDICAL JOURNAL (2005)
Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment
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JOURNAL OF MEDICAL GENETICS (2005)
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NEW ENGLAND JOURNAL OF MEDICINE (2005)
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JOURNAL OF MOLECULAR DIAGNOSTICS (2005)
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency - Familial colorectal cancer type X
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JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2005)
Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer
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JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2005)
Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer
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WIENER KLINISCHE WOCHENSCHRIFT (2005)
Psychological impact of genetic testing for hereditary nonpolyposis colorectal cancer
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JOURNAL OF CLINICAL ONCOLOGY (2005)
Predictive testing for hereditary nonpolyposis colorectal cancer: Subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test
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GENETIC TESTING (2005)
Long term follow-up of HNPCC gene mutation carriers: Compliance with screening and satisfaction with counseling and screening procedures
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FAMILIAL CANCER (2005)
Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome
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FAMILIAL CANCER (2005)
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JOURNAL OF CLINICAL ONCOLOGY (2005)
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BRITISH JOURNAL OF CANCER (2004)
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DISEASES OF THE COLON & RECTUM (2004)
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BRITISH MEDICAL JOURNAL (2004)
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ARCHIVES OF INTERNAL MEDICINE (2004)
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GUT (2004)
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GENETIC TESTING (2004)
Psychological impact of genetic testing for hereditary non-polyposis colorectal cancer
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CLINICAL GENETICS (2004)
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations:: Impact on counseling and surveillance
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GASTROENTEROLOGY (2004)
Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations:: The German hereditary nonpolyposis colorectal cancer consortium
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JOURNAL OF CLINICAL ONCOLOGY (2004)
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JOURNAL OF MOLECULAR DIAGNOSTICS (2004)
Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer
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JOURNAL OF CLINICAL ONCOLOGY (2004)
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DISEASE MARKERS (2004)
Development of a fluorescent multiplex assay for detection of MSI-high tumors
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DISEASE MARKERS (2004)
Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history
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AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Gynecologic screening in hereditary nonpolyposis colorectal cancer
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GYNECOLOGIC ONCOLOGY (2003)
Perforation during colonoscopy in endoscopic ambulatory surgical centers
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GASTROINTESTINAL ENDOSCOPY (2003)
An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal cancer
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GENETICS IN MEDICINE (2003)
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INTERNAL MEDICINE JOURNAL (2003)
Genetic Counseling and testing in families with hereditary nonpolyposis colorectal cancer
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ARCHIVES OF INTERNAL MEDICINE (2003)
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JOURNAL OF THE NATIONAL CANCER INSTITUTE (2003)
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GASTROENTEROLOGY (2003)
Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors
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AMERICAN JOURNAL OF PATHOLOGY (2003)
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BRITISH JOURNAL OF SURGERY (2003)
Impact of genetic counseling and testing on colorectal cancer screening behavior
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GENETIC TESTING (2002)
Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer:: A HuGE review
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AMERICAN JOURNAL OF EPIDEMIOLOGY (2002)
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ALIMENTARY PHARMACOLOGY & THERAPEUTICS (2002)
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JOURNAL OF CLINICAL ONCOLOGY (2002)
The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma
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CANCER (2002)
Methylation of hMLH1 promoter correlates with the gene silencing with a region-specific manner in colorectal cancer
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BRITISH JOURNAL OF CANCER (2002)
Procedural success and complications of large-scale screening colonoscopy
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GASTROINTESTINAL ENDOSCOPY (2002)
Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer
K Aktan-Collan et al.
JOURNAL OF MEDICAL GENETICS (2001)
MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers:: A study of hereditary nonpolyposis colorectal cancer families
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JOURNAL OF CLINICAL ONCOLOGY (2001)
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas
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AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Complications of diagnostic within a defined population and therapeutic colonoscopy in Sweden
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GASTROINTESTINAL ENDOSCOPY (2001)
Methylation pattern of different regions of the MLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer
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GENES CHROMOSOMES & CANCER (2001)
Morbidity of 10,110 hysterectomies by type of approach
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HUMAN REPRODUCTION (2001)
Atypical HNPCC owing to MSH6 germline mutations:: analysis of a large Dutch pedigree
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JOURNAL OF MEDICAL GENETICS (2001)
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AMERICAN JOURNAL OF GASTROENTEROLOGY (2000)
Population-based molecular detection of hereditary nonpolyposis colorectal cancer
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JOURNAL OF CLINICAL ONCOLOGY (2000)
Quality of life after total colectomy with ileorectal anastomosis or proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis
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BRITISH JOURNAL OF SURGERY (2000)
Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers
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AMERICAN JOURNAL OF PATHOLOGY (2000)
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GASTROENTEROLOGY (2000)