Published in Gastroenterology on May 02, 2008
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Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome. Gynecol Oncol (2014) 0.89
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Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genes. Hum Mutat (2011) 0.89
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Endometrial and ovarian cancer in women with Lynch syndrome: update in screening and prevention. Fam Cancer (2013) 0.86
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Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal cancer. World J Gastroenterol (2010) 0.85
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am J Hum Genet (2016) 0.85
Evaluation of clinical criteria for the identification of Lynch syndrome among unselected patients with endometrial cancer. Cancer Prev Res (Phila) (2014) 0.85
Contribution of large genomic rearrangements in Italian Lynch syndrome patients: characterization of a novel alu-mediated deletion. Biomed Res Int (2012) 0.84
Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression. Clin Genet (2012) 0.84
The genetic basis of Lynch syndrome and its implications for clinical practice and risk management. Appl Clin Genet (2014) 0.84
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Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event. Hum Mutat (2010) 0.83
Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything? Fam Cancer (2013) 0.83
Do lifestyle factors influence colorectal cancer risk in Lynch syndrome? Fam Cancer (2013) 0.82
Prophylactic surgery in Lynch syndrome. Tech Coloproctol (2011) 0.82
Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL. Genes Chromosomes Cancer (2012) 0.82
Lynch syndrome related endometrial cancer: clinical significance beyond the endometrium. J Hematol Oncol (2013) 0.82
Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC). J Med Genet (2014) 0.82
High microsatellite instability (MSI-H) colorectal carcinoma: a brief review of predictive biomarkers in the era of personalized medicine. Fam Cancer (2016) 0.81
Is there a role for prophylactic colectomy in Lynch syndrome patients with inflammatory bowel disease? Int J Colorectal Dis (2015) 0.81
Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene. Fam Cancer (2015) 0.81
Mismatch repair deficient-crypts in non-neoplastic colonic mucosa in Lynch syndrome: insights from an illustrative case. Fam Cancer (2015) 0.81
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MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. Hered Cancer Clin Pract (2010) 0.81
Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients. Am J Surg Pathol (2016) 0.81
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Advances in the study of Lynch syndrome in China. World J Gastroenterol (2015) 0.80
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Genetic counseling and cascade genetic testing in Lynch syndrome. Fam Cancer (2016) 0.78
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Diversity of the clinical presentation of the MMR gene biallelic mutations. Fam Cancer (2014) 0.78
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UK BRCA mutation testing in patients with ovarian cancer. Br J Cancer (2015) 0.78
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. BMJ Open (2016) 0.78
Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. Cancer Epidemiol Biomarkers Prev (2016) 0.78
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. Genet Med (2015) 0.77
MLH1 promotor hypermethylation does not rule out a diagnosis of Lynch syndrome: a case report. Fam Cancer (2015) 0.77
Clinical implications of BRAF mutation test in colorectal cancer. Gastroenterol Hepatol Bed Bench (2013) 0.76
Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age. Genet Med (2016) 0.76
Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Sci Rep (2015) 0.76
Genetic testing for Lynch syndrome: family communication and motivation. Fam Cancer (2016) 0.75
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med (2016) 0.75
Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment? Biomed Res Int (2015) 0.75
Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients. PLoS One (2016) 0.75
Clinical guideline seom: hereditary colorectal cancer. Clin Transl Oncol (2015) 0.75
Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency. Fam Cancer (2016) 0.75
Hereditary cancer syndromes: utilizing DNA repair deficiency as therapeutic target. Fam Cancer (2016) 0.75
Childhood cancers in families with and without Lynch syndrome. Fam Cancer (2015) 0.75
The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry. Hered Cancer Clin Pract (2014) 0.75
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CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet (2006) 13.63
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The role of microRNA genes in papillary thyroid carcinoma. Proc Natl Acad Sci U S A (2005) 8.60
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Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2008) 7.65
A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet (2007) 7.35
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
The 21st century hazards of smoking and benefits of stopping: a prospective study of one million women in the UK. Lancet (2012) 7.28
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet (2009) 6.91
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Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet (2008) 6.69
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Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (2008) 6.22
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Heritability of mammographic density, a risk factor for breast cancer. N Engl J Med (2002) 6.19
Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet (2008) 6.10
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet (2009) 6.04
Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev (2007) 6.00
Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol (2002) 5.91
Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst (2008) 5.82
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet (2013) 5.58
Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol (2008) 5.47
Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med (2008) 5.43
Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma. Proc Natl Acad Sci U S A (2008) 5.29
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Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
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
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A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet (2009) 4.38
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Ovarian cancer and hormone replacement therapy in the Million Women Study. Lancet (2007) 4.34
Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA (2006) 4.34
Antibiotic use in relation to the risk of breast cancer. JAMA (2004) 4.28
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res (2006) 4.26
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Antihypertensive treatments obscure familial contributions to blood pressure variation. Hypertension (2003) 4.19
A transposon-based genetic screen in mice identifies genes altered in colorectal cancer. Science (2009) 4.16
New common variants affecting susceptibility to basal cell carcinoma. Nat Genet (2009) 4.15
Breast cancer risk in relation to the interval between menopause and starting hormone therapy. J Natl Cancer Inst (2011) 4.14
Is it time to abandon the food frequency questionnaire? Cancer Epidemiol Biomarkers Prev (2005) 4.11
DNA mismatch repair status and colon cancer recurrence and survival in clinical trials of 5-fluorouracil-based adjuvant therapy. J Natl Cancer Inst (2011) 4.08
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA (2005) 3.99
Mammographic breast density as an intermediate phenotype for breast cancer. Lancet Oncol (2005) 3.99
VITamins And Lifestyle cohort study: study design and characteristics of supplement users. Am J Epidemiol (2004) 3.97
Multiple loci on 8q24 associated with prostate cancer susceptibility. Nat Genet (2009) 3.94
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet (2008) 3.90
Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet (2009) 3.89
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet (2008) 3.79
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med (2008) 3.76
Improving gene set analysis of microarray data by SAM-GS. BMC Bioinformatics (2007) 3.68
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA (2007) 3.62
Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia. Cell (2007) 3.58
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med (2009) 3.57
Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations. Nat Genet (2009) 3.46