Published in Int J Cancer on April 10, 2002
Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain. World J Gastroenterol (2005) 0.90
Reassessing the TARBP2 mutation rate in hereditary nonpolyposis colorectal cancer. Nat Genet (2010) 0.85
MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)--description of four novel mutations. Fam Cancer (2005) 0.85
Integrated analysis of mismatch repair system in malignant astrocytomas. PLoS One (2013) 0.82
Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients. Fam Cancer (2009) 0.82
Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer. PLoS One (2013) 0.82
Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6. J Mol Diagn (2005) 0.82
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
The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors. J Mol Diagn (2012) 0.79
The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals. PLoS One (2014) 0.77
Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer. Fam Cancer (2014) 0.76
Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients. Fam Cancer (2012) 0.75
Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families. PLoS One (2013) 0.75
The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families. Fam Cancer (2005) 0.75
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2007) 10.81
Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid (2009) 10.20
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2008) 7.65
Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med (2002) 6.94
Essential role for nuclear PTEN in maintaining chromosomal integrity. Cell (2007) 6.52
Breast-cancer stromal cells with TP53 mutations and nodal metastases. N Engl J Med (2007) 6.47
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet (2008) 6.10
Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility. Nat Genet (2009) 5.06
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
Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA (2004) 4.52
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA (2006) 4.09
Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas. Nat Genet (2002) 3.89
Direct evidence for epithelial-mesenchymal transitions in breast cancer. Cancer Res (2008) 3.41
Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res (2012) 3.33
Validation of proposed DSM-5 criteria for autism spectrum disorder. J Am Acad Child Adolesc Psychiatry (2011) 2.72
Mapping geographic zones of cancer risk with epigenetic biomarkers in normal breast tissue. Clin Cancer Res (2006) 2.70
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA (2005) 2.69
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet (2007) 2.64
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA (2005) 2.59
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet (2010) 2.59
PTEN hamartoma tumor syndrome: an overview. Genet Med (2009) 2.44
Protean PTEN: form and function. Am J Hum Genet (2002) 2.43
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet (2003) 2.43
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. JAMA (2010) 2.36
The nuclear affairs of PTEN. J Cell Sci (2008) 2.34
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family. Nat Rev Genet (2003) 2.26
Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. Surgery (2008) 2.26
PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers. Am J Pathol (2002) 2.16
Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol (2007) 2.16
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer (2006) 2.13
A limited set of human MicroRNA is deregulated in follicular thyroid carcinoma. J Clin Endocrinol Metab (2006) 2.10
Nuclear PTEN expression and clinicopathologic features in a population-based series of primary cutaneous melanoma. Int J Cancer (2002) 2.02
The epithelial mesenchymal transition confers resistance to the apoptotic effects of transforming growth factor Beta in fetal rat hepatocytes. Mol Cancer Res (2002) 2.01
SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples. Am J Hum Genet (2008) 2.00
A time study of cancer genetic counselors using a genetic counselor-only patient care model versus a traditional combined genetic counselor plus medical geneticist care model. J Natl Compr Canc Netw (2013) 2.00
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
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet (2008) 1.96
Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology (2010) 1.96
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet (2003) 1.94
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
APC-dependent suppression of colon carcinogenesis by PPARgamma. Proc Natl Acad Sci U S A (2002) 1.89
Highly penetrant hereditary cancer syndromes. Oncogene (2004) 1.84
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. Am J Hum Genet (2012) 1.84
Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosis. Cancer Res (2005) 1.84
Oophorectomy after menopause and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev (2012) 1.78
Combined total genome loss of heterozygosity scan of breast cancer stroma and epithelium reveals multiplicity of stromal targets. Cancer Res (2004) 1.76
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat (2008) 1.72
Association between BRCA1 mutations and ratio of female to male births in offspring of families with breast cancer, ovarian cancer, or both. JAMA (2003) 1.67
Frequency of germline genomic homozygosity associated with cancer cases. JAMA (2008) 1.67
Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney. Am J Med Genet A (2004) 1.67
Efficacy of oxaliplatin plus capecitabine or infusional fluorouracil/leucovorin in patients with metastatic colorectal cancer: a pooled analysis of randomized trials. J Clin Oncol (2008) 1.65
P38 alpha mitogen-activated protein kinase sensitizes cells to apoptosis induced by different stimuli. Mol Biol Cell (2003) 1.65
Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers. Eur J Hum Genet (2012) 1.62
Genomic instability within tumor stroma and clinicopathological characteristics of sporadic primary invasive breast carcinoma. JAMA (2007) 1.60
Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndrome. Am J Hum Genet (2008) 1.59
Multiple endocrine neoplasia type 2: an overview. Genet Med (2011) 1.58
Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. J Clin Endocrinol Metab (2007) 1.57
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet (2010) 1.56
BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels. Hum Mol Genet (2003) 1.54
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat (2003) 1.54
Coffee consumption and breast cancer risk among BRCA1 and BRCA2 mutation carriers. Int J Cancer (2006) 1.53
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res (2009) 1.53
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
Molecular mechanisms of insulin resistance in IRS-2-deficient hepatocytes. Diabetes (2003) 1.51
Hypomethylation of noncoding DNA regions and overexpression of the long noncoding RNA, AFAP1-AS1, in Barrett's esophagus and esophageal adenocarcinoma. Gastroenterology (2013) 1.49
PTEN mutations are common in sporadic microsatellite stable colorectal cancer. Oncogene (2004) 1.49
Frequent epigenetic inactivation of the SLIT2 gene in gliomas. Oncogene (2003) 1.47
Autophagy impairment aggravates the inhibitory effects of high glucose on osteoblast viability and function. Biochem J (2013) 1.46
Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer. Int J Cancer (2002) 1.44
The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain. Clin Cancer Res (2008) 1.43
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. Am J Hum Genet (2003) 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
Study of KRAS new predictive marker in a clinical laboratory. Clin Transl Oncol (2012) 1.39
Cowden syndrome. Semin Oncol (2007) 1.39
Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation. Am J Hum Genet (2007) 1.39
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res (2012) 1.38
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clin Cancer Res (2009) 1.38
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. Am J Pathol (2004) 1.37
The pressure rises: update on the genetics of phaeochromocytoma. Hum Mol Genet (2002) 1.36
Defining phenotypes and cancer risk in hyperplastic polyposis syndrome. Dis Colon Rectum (2011) 1.36
Tumor suppressor activity of CCAAT/enhancer binding protein alpha is epigenetically down-regulated in head and neck squamous cell carcinoma. Cancer Res (2007) 1.34
Familiality in Barrett's esophagus, adenocarcinoma of the esophagus, and adenocarcinoma of the gastroesophageal junction. Cancer Epidemiol Biomarkers Prev (2006) 1.33
Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) has nuclear localization signal-like sequences for nuclear import mediated by major vault protein. Cancer Res (2005) 1.33
Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center. J Clin Oncol (2013) 1.33
Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation. Am J Hum Genet (2006) 1.31
Novel adipocyte lines from brown fat: a model system for the study of differentiation, energy metabolism, and insulin action. Bioessays (2002) 1.30
The approach to the patient with paraganglioma. J Clin Endocrinol Metab (2009) 1.30
Gene expression profiling identifies MMP-12 and ADAMDEC1 as potential pathogenic mediators of pulmonary sarcoidosis. Am J Respir Crit Care Med (2009) 1.30
Subtypes of familial breast tumours revealed by expression and copy number profiling. Breast Cancer Res Treat (2009) 1.26
Increased PTEN expression due to transcriptional activation of PPARgamma by Lovastatin and Rosiglitazone. Int J Cancer (2006) 1.26
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model. Eur J Hum Genet (2011) 1.25
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. J Clin Endocrinol Metab (2011) 1.25