Published in Fam Cancer on January 01, 2005
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med (2009) 3.57
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
Sharing genetic test results in Lynch syndrome: communication with close and distant relatives. Clin Gastroenterol Hepatol (2008) 1.20
Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. Cancer Res (2009) 1.14
Patient compliance based on genetic medicine: a literature review. J Community Genet (2013) 1.04
Prevalence and predictors of appropriate colorectal cancer surveillance in Lynch syndrome. Am J Gastroenterol (2010) 1.03
Lynch syndrome: barriers to and facilitators of screening and disease management. Hered Cancer Clin Pract (2011) 1.00
Changes in screening behaviors and attitudes toward screening from pre-test genetic counseling to post-disclosure in Lynch syndrome families. Clin Genet (2013) 0.88
Patient responses to genetic information: studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice. Semin Nephrol (2010) 0.83
Health behaviors in patients and families with hereditary colorectal cancer. Clin Colon Rectal Surg (2012) 0.80
Factors affecting encouragement of relatives among families with Lynch syndrome to seek medical assessment. Fam Cancer (2011) 0.78
Screening adherence and cancer risk perceptions in colorectal cancer survivors with Lynch-like syndrome. Clin Genet (2015) 0.78
Knowledge and Uptake of Genetic Counseling and Colonoscopic Screening Among Individuals at Increased Risk for Lynch Syndrome and their Endoscopists from the Family Health Promotion Project. Am J Gastroenterol (2016) 0.77
The Impact of Receiving Predictive Genetic Information about Lynch Syndrome on Individual Colonoscopy and Smoking Behaviors. Cancer Epidemiol Biomarkers Prev (2016) 0.75
Specialists' perceptions of hereditary colorectal cancer screening in Newfoundland and Labrador. Curr Oncol (2012) 0.75
Genetic testing for Lynch syndrome: family communication and motivation. Fam Cancer (2016) 0.75
Hope-based intervention for individuals susceptible to colorectal cancer: a pilot study. Fam Cancer (2012) 0.75
Value-based healthcare in Lynch syndrome. Fam Cancer (2013) 0.75
A novel MSH2 germline mutation in a Druze HNPCC family. Fam Cancer (2007) 0.75
Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience. Dig Dis Sci (2016) 0.75
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell (1993) 13.54
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology (2000) 8.41
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature (1994) 8.04
Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol (2003) 5.69
Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet (1997) 3.41
Psychological and behavioral implications of abnormal mammograms. Ann Intern Med (1991) 3.40
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet (1997) 3.34
MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families. J Clin Oncol (2001) 2.71
Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res (1997) 2.28
The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer (2002) 2.07
Colon cancer screening. Gastroenterology (2000) 2.01
Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer. J Clin Oncol (2004) 1.54
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet (2001) 1.51
Personal theories of inheritance, coping strategies, risk perception and engagement in hereditary non-polyposis colon cancer families offered genetic testing. Clin Genet (2003) 1.10
No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer. Scand J Gastroenterol (2002) 0.95
Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer. J Med Genet (2001) 0.95
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst (2004) 14.97
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res (2005) 5.70
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med (2008) 3.76
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer (2008) 2.95
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology (2004) 2.90
Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res (Phila) (2010) 2.86
Magnetic resonance imaging of the breast: recommendations from the EUSOMA working group. Eur J Cancer (2010) 2.62
Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol (2012) 2.59
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet (2012) 2.45
Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ (2012) 2.44
A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer (2006) 2.35
Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology (2006) 2.34
Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res (2004) 2.17
PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet (2009) 2.16
Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers. Int J Cancer (2012) 2.15
The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer (2002) 2.07
Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat (2009) 2.04
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol (2010) 1.98
Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet (2013) 1.93
Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group. J Clin Oncol (2007) 1.83
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
Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome. Gastroenterology (2008) 1.79
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. Cancer Epidemiol Biomarkers Prev (2007) 1.75
Satisfaction with prophylactic mastectomy and breast reconstruction in genetically predisposed women. Plast Reconstr Surg (2006) 1.70
Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res (2004) 1.68
Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. J Clin Oncol (2003) 1.68
PLS3 mutations in X-linked osteoporosis with fractures. N Engl J Med (2013) 1.66
A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis. Cancer Prev Res (Phila) (2011) 1.64
Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet (2003) 1.58
A nation-wide study comparing sporadic and familial adenomatous polyposis-related desmoid-type fibromatoses. Int J Cancer (2010) 1.56
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet (2010) 1.54
Survival after adjuvant 5-FU treatment for stage III colon cancer in hereditary nonpolyposis colorectal cancer. Int J Cancer (2004) 1.49
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. J Natl Cancer Inst (2010) 1.48
The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer Res (2003) 1.44
The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC. Gastroenterology (2004) 1.41
Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort. Cancer Epidemiol Biomarkers Prev (2009) 1.40
Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis. Genome Res (2014) 1.40
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology (2008) 1.40
Screening behavior of individuals at high risk for colorectal cancer. Gastroenterology (2005) 1.39
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology (2006) 1.34
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. Hum Mutat (2006) 1.34
Sensitivity to first-line chemotherapy for metastatic breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol (2009) 1.33
Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur J Hum Genet (2013) 1.31
Desmoid tumors in a dutch cohort of patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol (2008) 1.29
Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians. CA Cancer J Clin (2006) 1.29
Leiden Open Variation Database of the MUTYH gene. Hum Mutat (2010) 1.28
Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium. Proc Natl Acad Sci U S A (2002) 1.23
Body weight and risk of breast cancer in BRCA1/2 mutation carriers. Breast Cancer Res Treat (2010) 1.22
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res (2012) 1.22
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet (2013) 1.22
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. Cancer (2007) 1.21
Genetic testing in familial melanoma: uptake and implications. Psychooncology (2008) 1.21
Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. Gastroenterology (2009) 1.18
Loss of ARID1A expression and its relationship with PI3K-Akt pathway alterations, TP53 and microsatellite instability in endometrial cancer. Mod Pathol (2013) 1.16
Clinical characteristics affect the impact of an uninformative DNA test result: the course of worry and distress experienced by women who apply for genetic testing for breast cancer. J Clin Oncol (2006) 1.15
A BRCA1/2 mutation, high breast density and prominent pushing margins of a tumor independently contribute to a frequent false-negative mammography. Int J Cancer (2002) 1.14
Small-bowel cancer in Lynch syndrome: is it time for surveillance? Lancet Oncol (2008) 1.11
Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study. Dis Colon Rectum (2011) 1.11
Selection bias influences reported contralateral breast cancer incidence and survival in high risk non-BRCA1/2 patients. Breast Cancer Res Treat (2006) 1.10
Prevalence of adenomas among young individuals at average risk for colorectal cancer. Am J Gastroenterol (2005) 1.10
Comparison of individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing with regard to coping, illness perceptions, illness experiences, family system characteristics and hereditary cancer distress. Patient Educ Couns (2006) 1.10
Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS One (2013) 1.10
Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study. Int J Colorectal Dis (2002) 1.09
MUTYH-associated polyposis (MAP). Crit Rev Oncol Hematol (2010) 1.09
Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat (2011) 1.07
A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships. Psychooncology (2007) 1.07
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. Eur J Hum Genet (2009) 1.07
Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. Gastroenterology (2006) 1.06
A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. Cancer Epidemiol Biomarkers Prev (2014) 1.03
Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. Audiol Neurootol (2006) 1.02
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. Hum Mutat (2010) 1.02
Body mass index increases risk of colorectal adenomas in men with Lynch syndrome: the GEOLynch cohort study. J Clin Oncol (2010) 1.01
Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis. Int J Cancer (2014) 1.01
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. J Med Genet (2011) 1.01
Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue. Clin Cancer Res (2008) 1.01
Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer. Breast Cancer Res Treat (2009) 1.00
Distant disease-free interval, site of first relapse and post-relapse survival in BRCA1- and BRCA2-associated compared to sporadic breast cancer patients. Breast Cancer Res Treat (2007) 0.99
Progress in genetic testing, classification, and identification of Lynch syndrome. JAMA (2005) 0.99
Surveillance for hereditary cancer: does the benefit outweigh the psychological burden?--A systematic review. Crit Rev Oncol Hematol (2012) 0.98
Psychological distress and use of psychosocial support in familial adenomatous polyposis. Psychooncology (2010) 0.98
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. Eur J Cancer (2011) 0.98
MDM2 SNP309 accelerates familial breast carcinogenesis independently of estrogen signaling. Breast Cancer Res Treat (2006) 0.98
What's the message? Interpretation of an uninformative BRCA1/2 test result for women at risk of familial breast cancer. Genet Med (2005) 0.96