Published in Am J Hum Genet on August 01, 2008
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A (2010) 2.68
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
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. JAMA (2010) 2.36
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. J Intern Med (2009) 1.47
Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer. J Urol (2012) 1.45
[Hereditary renal tumors : More common than expected?]. Pathologe (2016) 1.38
Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment. Curr Probl Cancer (2014) 1.33
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
Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis. Nat Cell Biol (2015) 1.22
Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53. Hum Mol Genet (2011) 1.19
Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients. Am J Surg Pathol (2014) 1.11
PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes. Am J Surg Pathol (2012) 1.05
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH? J Clin Endocrinol Metab (2011) 1.00
Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function. Hum Mol Genet (2009) 1.00
Physiological consequences of complex II inhibition for aging, disease, and the mKATP channel. Biochim Biophys Acta (2013) 0.99
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals. Genet Med (2012) 0.98
Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects? Endocr Relat Cancer (2012) 0.94
Sequencing and analysis of a South Asian-Indian personal genome. BMC Genomics (2012) 0.91
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. Urology (2012) 0.91
Current views on cell metabolism in SDHx-related pheochromocytoma and paraganglioma. Endocr Relat Cancer (2014) 0.88
Succinate dehydrogenase expression in breast cancer. Springerplus (2013) 0.86
Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation. Hum Mol Genet (2014) 0.86
Vitamin E protects against lipid peroxidation and rescues tumorigenic phenotypes in cowden/cowden-like patient-derived lymphoblast cells with germline SDHx variants. Clin Cancer Res (2012) 0.86
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. J Clin Endocrinol Metab (2015) 0.85
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. Am J Hum Genet (2015) 0.85
Clustering of sebaceous gland carcinoma, papillary thyroid carcinoma and breast cancer in a woman as a new cancer susceptibility disorder: a case report. J Med Case Rep (2009) 0.83
Succinate dehydrogenase gene variants and their role in Cowden syndrome. Am J Hum Genet (2011) 0.82
Mitochondrial and nuclear genes of mitochondrial components in cancer. Curr Genomics (2009) 0.82
Elevation of methylated DNA in KILLIN/PTEN in the plasma of patients with thyroid and/or breast cancer. Onco Targets Ther (2014) 0.80
Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty. J Pediatr Endocrinol Metab (2014) 0.80
Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest. Hum Mol Genet (2013) 0.79
Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer. Endocr Relat Cancer (2015) 0.79
Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study. Cancer (2014) 0.79
A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma. Int J Clin Exp Pathol (2015) 0.77
Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease. Cold Spring Harb Mol Case Stud (2016) 0.77
Germline PARP4 mutations in patients with primary thyroid and breast cancers. Endocr Relat Cancer (2015) 0.76
Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome. Clinics (Sao Paulo) (2012) 0.76
Anti-cancer potential of MAPK pathway inhibition in paragangliomas-effect of different statins on mouse pheochromocytoma cells. PLoS One (2014) 0.76
Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells. Hum Mol Genet (2017) 0.75
Cutaneous manifestation of gastrointestinal disease. J Gastrointest Oncol (2016) 0.75
Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects. Eur Thyroid J (2016) 0.75
Germline Compound Heterozygous Poly-glutamine Deletion in USF3 May Be Involved in Predisposition to Heritable and Sporadic Epithelial Thyroid Carcinoma. Hum Mol Genet (2016) 0.75
Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients. Oncol Lett (2015) 0.75
Enhanced lymphocyte interferon (IFN)-γ responses in a PTEN mutation-negative Cowden disease kindred. Clin Exp Immunol (2011) 0.75
Genetic basis of Cowden syndrome and its implications for clinical practice and risk management. Appl Clin Genet (2016) 0.75
SDHB deficiency promotes TGFβ-mediated invasion and metastasis of colorectal cancer through transcriptional repression complex SNAIL1-SMAD3/4. Transl Oncol (2016) 0.75
Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing. Mod Pathol (2017) 0.75
Sdhd ablation promotes thyroid tumorigenesis by inducing a stem-like phenotype. Endocr Relat Cancer (2017) 0.75
Insertion of Alu elements at a PTEN hotspot in Cowden syndrome. Eur J Hum Genet (2017) 0.75
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations. J Cancer Res Clin Oncol (2017) 0.75
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors. Endocr Relat Cancer (2017) 0.75
Primary Renal Paragangliomas and Renal Neoplasia Associated with Pheochromocytoma/Paraganglioma: Analysis of von Hippel-Lindau (VHL), Succinate Dehydrogenase (SDHX) and Transmembrane Protein 127 (TMEM127). Endocr Pathol (2017) 0.75
Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers. J Natl Cancer Inst (2000) 16.92
Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN. Cell (1998) 13.98
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet (2007) 10.92
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet (1997) 10.71
Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase. Cancer Cell (2005) 9.33
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science (2000) 8.64
Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med (2002) 6.94
PTEN: one gene, many syndromes. Hum Mutat (2003) 5.79
Reversible inactivation of the tumor suppressor PTEN by H2O2. J Biol Chem (2002) 5.08
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet (1998) 4.72
Loss of PTEN facilitates HIF-1-mediated gene expression. Genes Dev (2000) 4.24
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab (2005) 4.07
Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet (1996) 3.53
Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A (2001) 3.31
High incidence of breast and endometrial neoplasia resembling human Cowden syndrome in pten+/- mice. Cancer Res (2000) 3.24
Inhibition of hypoxia-inducible factor (HIF) hydroxylases by citric acid cycle intermediates: possible links between cell metabolism and stabilization of HIF. J Biol Chem (2006) 2.86
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet (2003) 2.43
Mutation of succinate dehydrogenase subunit C results in increased O2.-, oxidative stress, and genomic instability. Cancer Res (2006) 2.27
A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer (2003) 2.26
Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer (2006) 2.13
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
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
A mutation in the SDHC gene of complex II increases oxidative stress, resulting in apoptosis and tumorigenesis. Cancer Res (2005) 1.69
Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas. Genes Chromosomes Cancer (2002) 1.51
Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. J Clin Endocrinol Metab (2004) 1.14
PTEN blocks insulin-mediated ETS-2 phosphorylation through MAP kinase, independently of the phosphoinositide 3-kinase pathway. Hum Mol Genet (2002) 1.11
p53 down-regulates phosphatase and tensin homologue deleted on chromosome 10 protein stability partially through caspase-mediated degradation in cells with proteasome dysfunction. Cancer Res (2006) 0.99
G12S and H50R variations are polymorphisms in the SDHD gene. Genes Chromosomes Cancer (2003) 0.93
Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients. Oncogene (2002) 0.86
Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid (2009) 10.20
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
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
Detection in fecal DNA of colon cancer-specific methylation of the nonexpressed vimentin gene. J Natl Cancer Inst (2005) 3.73
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
15-Hydroxyprostaglandin dehydrogenase, a COX-2 oncogene antagonist, is a TGF-beta-induced suppressor of human gastrointestinal cancers. Proc Natl Acad Sci U S A (2004) 2.42
15-Hydroxyprostaglandin dehydrogenase is an in vivo suppressor of colon tumorigenesis. Proc Natl Acad Sci U S A (2006) 2.41
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
Genomic alterations in tumor stroma. Cancer Res (2009) 2.18
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
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
A prospective, multicentre study to investigate the efficacy, safety and tolerability of octreotide LAR (long-acting repeatable octreotide) in the primary therapy of patients with acromegaly. Clin Endocrinol (Oxf) (2007) 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
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
APC-dependent suppression of colon carcinogenesis by PPARgamma. Proc Natl Acad Sci U S A (2002) 1.89
A subset of familial colorectal neoplasia kindreds linked to chromosome 9q22.2-31.2. Proc Natl Acad Sci U S A (2003) 1.84
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
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
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
BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels. Hum Mol Genet (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
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
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
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med (2006) 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
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
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
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
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
Evidence of MEN-2 in the original description of classic pheochromocytoma. N Engl J Med (2007) 1.24
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet (2006) 1.24
Microenvironmental genomic alterations and clinicopathological behavior in head and neck squamous cell carcinoma. JAMA (2007) 1.24