Founding mutations and Alu-mediated recombination in hereditary colon cancer.

Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet (1999) 4.16

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

DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. Nature (2011) 3.90

Methylation matters. J Med Genet (2001) 3.00

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

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet (1999) 2.21

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history. Genome Res (2008) 2.17

Inverse relationship between microsatellite instability and K-ras and p53 gene alterations in colon cancer. Am J Pathol (2001) 1.79

The partial tandem duplication of ALL1 (MLL) is consistently generated by Alu-mediated homologous recombination in acute myeloid leukemia. Proc Natl Acad Sci U S A (1998) 1.79

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

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer (2002) 1.65

Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. Mol Oncol (2009) 1.61

Copy number variations and cancer. Genome Med (2009) 1.59

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

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

Interstitial deletions and intrachromosomal amplification initiated from a double-strand break targeted to a mammalian chromosome. EMBO J (1998) 1.35

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet (1999) 1.21

Germline truncating mutations in both MSH2 and BRCA2 in a single kindred. Br J Cancer (2004) 1.17

Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. Am J Hum Genet (2001) 1.14

The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers. J Med Genet (2000) 1.11

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. J Med Genet (2010) 1.11

The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. Am J Hum Genet (1996) 1.07

Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases. Breast Cancer Res (2012) 1.05

Is gastric cancer part of the tumour spectrum of hereditary non-polyposis colorectal cancer? A molecular genetic study. Gut (2007) 1.03

Mobile elements in the human genome: implications for disease. Genome Med (2012) 1.02

Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. Fam Cancer (2008) 0.97

Low cancer incidence rates in Ohio Amish. Cancer Causes Control (2009) 0.97

MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population. Am J Hum Genet (2004) 0.96

Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression. Am J Hum Genet (1997) 0.96

Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods. J Mol Diagn (2005) 0.95

hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients. Br J Cancer (2005) 0.94

Tracing cell fates in human colorectal tumors from somatic microsatellite mutations: evidence of adenomas with stem cell architecture. Am J Pathol (1998) 0.91

Application of molecular diagnostics for the detection of Lynch syndrome. Expert Rev Mol Diagn (2010) 0.89

Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer. J Med Genet (2000) 0.88

SINE transcription by RNA polymerase III is suppressed by histone methylation but not by DNA methylation. Nat Commun (2015) 0.87

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion. Hum Genet (2004) 0.87

Telomerase activity is commonly detected in hereditary nonpolyposis colorectal cancers. Am J Pathol (1996) 0.87

Human and mouse introns are linked to the same processes and functions through each genome's most frequent non-conserved motifs. Nucleic Acids Res (2008) 0.87

Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. J Med Genet (1996) 0.87

Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination. Fam Cancer (2008) 0.86

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. Fam Cancer (2010) 0.86

Double-strand break repair by interchromosomal recombination: an in vivo repair mechanism utilized by multiple somatic tissues in mammals. PLoS One (2013) 0.85

The contribution of alu elements to mutagenic DNA double-strand break repair. PLoS Genet (2015) 0.84

Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. Fam Cancer (2008) 0.84

Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer. World J Gastroenterol (2006) 0.83

An alternative approach to medical genetics based on modern evolutionary biology. Part 4: HERVs in cancer. J R Soc Med (2009) 0.82

RNAs in the sera of Persian Gulf War veterans have segments homologous to chromosome 22q11.2. Clin Diagn Lab Immunol (1999) 0.82

Nuclear function of Alus. Nucleus (2014) 0.81

Effects of mutation and growth rates on patterns of microsatellite instability. Am J Pathol (1996) 0.81

Expanding the genetic basis of copy number variation in familial breast cancer. Hered Cancer Clin Pract (2014) 0.81

DNA mismatch repair and Lynch syndrome. J Mol Histol (2006) 0.81

A large MSH2 Alu insertion mutation causes HNPCC in a German kindred. Hum Genet (2004) 0.80

Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing. World J Gastroenterol (2007) 0.79

Inherited colorectal cancer syndromes. Clin Colon Rectal Surg (2009) 0.79

An American founder mutation in MLH1. Int J Cancer (2011) 0.79

Altering Genomic Integrity: Heavy Metal Exposure Promotes Transposable Element-Mediated Damage. Biol Trace Elem Res (2015) 0.78

Genetics in an isolated population like Finland: a different basis for genomic medicine? J Community Genet (2017) 0.78

Large intron 14 rearrangement in APC results in splice defect and attenuated FAP. Hum Genet (2009) 0.78

Identification of rare germline copy number variations over-represented in five human cancer types. Mol Cancer (2015) 0.78

Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers. BMC Cancer (2009) 0.77

Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds. World J Gastroenterol (2008) 0.77

Toolbox for mobile-element insertion detection on cancer genomes. Cancer Inform (2014) 0.76

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin. Eur J Hum Genet (2012) 0.76

Toolbox for mobile-element insertion detection on cancer genomes. Cancer Inform (2015) 0.75

Recurrent and founder mutations in the PMS2 gene. Clin Genet (2012) 0.75

Alterations of copy number of methylation pattern in mismatch repair genes by methylation specific-multiplex ligation-dependent probe amplification in cases of colon cancer. Balkan J Med Genet (2011) 0.75

Some aspects of molecular diagnostics in Lynch syndrome. Hered Cancer Clin Pract (2006) 0.75

Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management. Ann Surg (2007) 0.75

A novel MSH2 germline mutation in a Druze HNPCC family. Fam Cancer (2007) 0.75

The value of multi-modal gene screening in HNPCC in Quebec: three mutations in mismatch repair genes that would have not been correctly identified by genomic DNA sequencing alone. Fam Cancer (2006) 0.75

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem (1983) 206.01

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum. Anal Biochem (1984) 66.58

Serial analysis of gene expression. Science (1995) 60.15

A genetic model for colorectal tumorigenesis. Cell (1990) 44.37

WAF1, a potential mediator of p53 tumor suppression. Cell (1993) 38.72

Surfing the p53 network. Nature (2000) 35.36

p53 mutations in human cancers. Science (1991) 31.96

Preparative and analytical purification of DNA from agarose. Proc Natl Acad Sci U S A (1979) 27.20

Lessons from hereditary colorectal cancer. Cell (1996) 25.73

Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. Science (1997) 24.61

A simplified system for generating recombinant adenoviruses. Proc Natl Acad Sci U S A (1998) 24.58

Identification of c-MYC as a target of the APC pathway. Science (1998) 24.25

Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma. Science (1997) 22.80

Genetic instabilities in human cancers. Nature (1998) 22.76

A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell (1992) 19.87

Requirement for p53 and p21 to sustain G2 arrest after DNA damage. Science (1998) 17.91

Amplification of a gene encoding a p53-associated protein in human sarcomas. Nature (1992) 17.40

Participation of p53 protein in the cellular response to DNA damage. Cancer Res (1991) 16.00

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

Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science (1995) 13.15

Definition of a consensus binding site for p53. Nat Genet (1992) 12.76

Genetic instability in colorectal cancers. Nature (1997) 12.51

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

Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science (1989) 11.53

Identification of FAP locus genes from chromosome 5q21. Science (1991) 11.41

A model for p53-induced apoptosis. Nature (1997) 11.38

Characterization of the yeast transcriptome. Cell (1997) 11.33

Mutations of mitotic checkpoint genes in human cancers. Nature (1998) 11.20

Suppression of human colorectal carcinoma cell growth by wild-type p53. Science (1990) 11.18

Genes expressed in human tumor endothelium. Science (2000) 10.75

Digital PCR. Proc Natl Acad Sci U S A (1999) 10.54

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

Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene. Science (1992) 10.12

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

Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci U S A (1998) 9.66

Gene expression profiles in normal and cancer cells. Science (1997) 9.65

APC mutations occur early during colorectal tumorigenesis. Nature (1992) 9.50

Hypomethylation distinguishes genes of some human cancers from their normal counterparts. Nature (1983) 9.28

Prevalence of ras gene mutations in human colorectal cancers. Nature (1987) 9.23

Mutation of a mutL homolog in hereditary colon cancer. Science (1994) 9.04

A public database for gene expression in human cancers. Cancer Res (1999) 8.81

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

Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology (2000) 8.41

Identification of a chromosome 18q gene that is altered in colorectal cancers. Science (1990) 8.32

PUMA induces the rapid apoptosis of colorectal cancer cells. Mol Cell (2001) 7.95

Oncoprotein MDM2 conceals the activation domain of tumour suppressor p53. Nature (1993) 7.90

p53 function and dysfunction. Cell (1992) 7.73

14-3-3 sigma is a p53-regulated inhibitor of G2/M progression. Mol Cell (1997) 7.20

Association of the APC tumor suppressor protein with catenins. Science (1993) 7.17

Increased expression of the epidermal growth factor receptor gene in malignant gliomas is invariably associated with gene amplification. Proc Natl Acad Sci U S A (1987) 7.12

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

Oncogenic forms of p53 inhibit p53-regulated gene expression. Science (1992) 6.73

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

p21 is necessary for the p53-mediated G1 arrest in human cancer cells. Cancer Res (1995) 6.66

Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell (1993) 6.61

Identification of p53 as a sequence-specific DNA-binding protein. Science (1991) 6.60

Structural alterations of the epidermal growth factor receptor gene in human gliomas. Proc Natl Acad Sci U S A (1992) 6.58

Purification of DNA from formaldehyde fixed and paraffin embedded human tissue. Biochem Biophys Res Commun (1985) 6.57

Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet (2001) 6.36

Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. Science (1991) 6.15

Analysis of human transcriptomes. Nat Genet (1999) 6.14

Disruption of p53 in human cancer cells alters the responses to therapeutic agents. J Clin Invest (1999) 6.13