Published in Hum Mutat on September 01, 2004
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res (2009) 10.08
Prediction and assessment of splicing alterations: implications for clinical testing. Hum Mutat (2008) 1.73
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Hum Mutat (2009) 1.35
Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. J Cancer Res Clin Oncol (2010) 1.14
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Hum Genet (2005) 1.13
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. BMC Genomics (2006) 1.08
Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families. Mutat Res (2009) 1.00
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. PLoS One (2013) 0.98
Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family. J Med Genet (2005) 0.95
Aberrant splice variants of HAS1 (Hyaluronan Synthase 1) multimerize with and modulate normally spliced HAS1 protein: a potential mechanism promoting human cancer. J Biol Chem (2009) 0.91
Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays. Hered Cancer Clin Pract (2012) 0.89
Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay. Fam Cancer (2009) 0.82
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. J Mol Diagn (2009) 0.82
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. Mol Genet Genomic Med (2015) 0.81
A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression. J Mol Diagn (2010) 0.79
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. Hum Mutat (2016) 0.78
Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome. Proc Natl Acad Sci U S A (2013) 0.78
Non-truncating hMLH1 variants identified in Slovenian gastric cancer patients are not associated with Lynch Syndrome: a functional analysis report. Fam Cancer (2011) 0.77
TNF receptor-associated periodic fever syndrome caused by sequence alterations in exonic splicing enhancers: comment on the article by Trübenbach et al. Rheumatol Int (2009) 0.75
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet (2002) 9.71
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet (2006) 9.17
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA (2010) 8.93
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet (2006) 7.72
Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet (2010) 7.62
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet (2006) 6.67
Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002). Gut (2010) 6.34
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet (2012) 6.25
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
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet (2010) 3.86
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
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet (2013) 3.42
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet (2011) 3.37
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet (2003) 3.24
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst (2013) 2.93
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J Clin Oncol (2013) 2.71
Screening for familial ovarian cancer: failure of current protocols to detect ovarian cancer at an early stage according to the international Federation of gynecology and obstetrics system. J Clin Oncol (2005) 2.69
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature (2012) 2.66
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
A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer (2006) 2.35
Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS). J Natl Cancer Inst (2006) 2.25
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev (2011) 1.99
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res (2010) 1.90
Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status. Int J Cancer (2007) 1.84
Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Res (2006) 1.77
Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet (2012) 1.76
Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat Commun (2013) 1.73
Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res (2011) 1.65
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
Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. Cancer Res (2003) 1.62
Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet (2003) 1.58
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci U S A (2004) 1.56
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2011) 1.51
Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan. Hum Mol Genet (2006) 1.42
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab (2007) 1.41
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Hum Mol Genet (2008) 1.40
Developing a policy for paediatric biobanks: principles for good practice. Eur J Hum Genet (2012) 1.39
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet (2011) 1.39
Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nat Commun (2013) 1.36
Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance. Hum Mutat (2008) 1.35
Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep (2009) 1.32
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. Carcinogenesis (2013) 1.28
Effect of single-agent rituximab given at the standard schedule or as prolonged treatment in patients with mantle cell lymphoma: a study of the Swiss Group for Clinical Cancer Research (SAKK). J Clin Oncol (2004) 1.28
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
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res (2011) 1.22
Feasibility and acceptability of providing nurse counsellor genetics clinics in primary care. J Adv Nurs (2006) 1.21
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology (2009) 1.21
Unregulated smooth-muscle myosin in human intestinal neoplasia. Proc Natl Acad Sci U S A (2008) 1.20
Genetic professionals' reports of nondisclosure of genetic risk information within families. Eur J Hum Genet (2005) 1.18
Prospective observational study of breast cancer treatment outcomes for UK women aged 18-40 years at diagnosis: the POSH study. J Natl Cancer Inst (2013) 1.13
Deciphering the genetics of hereditary non-syndromic colorectal cancer. Eur J Hum Genet (2008) 1.13
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer. PLoS Biol (2011) 1.12
Consent and confidentiality in clinical genetic practice: guidance on genetic testing and sharing genetic information. Clin Med (2012) 1.12
The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer. Breast Cancer Res (2008) 1.11
Identification of inherited genetic variations influencing prognosis in early-onset breast cancer. Cancer Res (2013) 1.06
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. Nat Genet (2013) 1.05
Machine learning approaches for the discovery of gene-gene interactions in disease data. Brief Bioinform (2012) 1.03
Distinguishing research from clinical care in cancer genetics: theoretical justifications and practical strategies. Soc Sci Med (2009) 1.03
Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer. Fam Cancer (2009) 1.03
Guilt, blame and responsibility: men's understanding of their role in the transmission of BRCA1/2 mutations within their family. Sociol Health Illn (2006) 1.02
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet Oncol (2012) 1.01
Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches. J Cardiovasc Transl Res (2012) 1.00
Accurate prediction of BRCA1 and BRCA2 heterozygous genotype using expression profiling after induced DNA damage. Clin Cancer Res (2006) 0.99
Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6. Hum Mutat (2011) 0.99
Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. Hum Genet (2013) 0.99
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat (2012) 0.98
Gene-gene interactions in breast cancer susceptibility. Hum Mol Genet (2011) 0.97
Gene promoter hypermethylation in ductal lavage fluid from healthy BRCA gene mutation carriers and mutation-negative controls. Breast Cancer Res (2007) 0.96
Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids. PLoS One (2011) 0.94
Familial non-BRCA1/BRCA2-associated breast cancer. Lancet Oncol (2005) 0.94
Acute chemotherapy-related toxicity is not increased in BRCA1 and BRCA2 mutation carriers treated for breast cancer in the United Kingdom. Clin Cancer Res (2006) 0.94
Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers. Breast Cancer Res Treat (2010) 0.93
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. BMC Genomics (2005) 0.93
Evaluation of RAD50 in familial breast cancer predisposition. Int J Cancer (2006) 0.92
Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome. Cancer Epidemiol Biomarkers Prev (2013) 0.92
Large genomic deletions in AIP in pituitary adenoma predisposition. J Clin Endocrinol Metab (2008) 0.92
Improving the ascertainment of families at high risk of colorectal cancer: a prospective GP register study. Br J Gen Pract (2004) 0.90
'Over-the-counter' genetic testing: what does it really mean for primary care? Br J Gen Pract (2009) 0.90
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res (2014) 0.89
Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10. Cancer Res (2013) 0.89
A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev (2012) 0.89
Working towards ethical management of genetic testing. Lancet (2002) 0.89
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers. Breast Cancer Res (2012) 0.88
Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex. Australas J Dermatol (2011) 0.88
Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STK11-negative PJS cases. Genes Chromosomes Cancer (2004) 0.87
Late toxicity is not increased in BRCA1/BRCA2 mutation carriers undergoing breast radiotherapy in the United Kingdom. Clin Cancer Res (2006) 0.86
Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not. Genet Med (2013) 0.86
No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer Res Treat (2008) 0.84