Highly penetrant hereditary cancer syndromes.

Ubiquitination regulates PTEN nuclear import and tumor suppression. Cell (2007) 5.62

BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Transl Med (2012) 1.76

Epigenetic inactivation of the premature aging Werner syndrome gene in human cancer. Proc Natl Acad Sci U S A (2006) 1.70

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

Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Gut (2013) 1.51

Regulation of gross chromosomal rearrangements by ubiquitin and SUMO ligases in Saccharomyces cerevisiae. Mol Cell Biol (2006) 1.25

Clinical application of genetics in management of colorectal cancer. Intest Res (2014) 1.11

The signatures of autozygosity among patients with colorectal cancer. Cancer Res (2008) 1.10

Oxygen metabolism and reactive oxygen species cause chromosomal rearrangements and cell death. Proc Natl Acad Sci U S A (2007) 1.10

Prospective health care: the second transformation of medicine. Genome Biol (2006) 1.07

Association of adrenocortical carcinoma with familial cancer susceptibility syndromes. Mol Cell Endocrinol (2011) 1.01

Age of onset in familial cancer. Ann Oncol (2008) 1.00

Hereditary hamartomatous polyposis syndromes: understanding the disease risks as children reach adulthood. Gastroenterol Hepatol (N Y) (2010) 0.99

Genetics of the hamartomatous polyposis syndromes: a molecular review. Int J Colorectal Dis (2009) 0.95

Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study. Breast Cancer Res Treat (2012) 0.95

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. Am J Hum Genet (2010) 0.90

The pleiotropic phenotype of Apc mutations in the mouse: allele specificity and effects of the genetic background. Genetics (2008) 0.87

Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology. J Mol Diagn (2008) 0.86

The interval between cancer diagnosis among mothers and offspring in a population-based cohort. Fam Cancer (2007) 0.85

Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies. PLoS One (2015) 0.83

MUTYH-associated colorectal cancer and adenomatous polyposis. Surg Today (2013) 0.82

Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing. Fam Cancer (2015) 0.82

Collateral damage: insights into bacterial mechanisms that predispose host cells to cancer. Nat Rev Microbiol (2017) 0.81

Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature. BMC Cancer (2012) 0.81

The Reverse Transcriptase Encoded by LINE-1 Retrotransposons in the Genesis, Progression, and Therapy of Cancer. Front Chem (2016) 0.81

HOXB13 and other high penetrant genes for prostate cancer. Asian J Androl (2016) 0.80

Germline mutations causing familial lung cancer. J Hum Genet (2015) 0.79

Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome. Cancer Lett (2013) 0.79

Obstructing hamartomatous polyp in peutz-jeghers syndrome. Case Rep Radiol (2013) 0.79

The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations. Orphanet J Rare Dis (2014) 0.78

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

Tissue-specific tumorigenesis: context matters. Nat Rev Cancer (2017) 0.77

A case of late-onset Li-Fraumeni-like syndrome with unilateral breast cancer. Ann Lab Med (2013) 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

Clinically relevant lessons from Family HealthLink: a cancer and coronary heart disease familial risk assessment tool. Genet Med (2014) 0.76

The genomics of colorectal cancer: state of the art. Curr Genomics (2008) 0.76

DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations. Braz J Med Biol Res (2015) 0.76

Four tumours including neuroendocrine tumour of the ileum. BMJ Case Rep (2015) 0.75

The latent class twin method. Biometrics (2016) 0.75

Novel polymorphisms in caspase-8 are associated with breast cancer risk in the California Teachers Study. BMC Cancer (2016) 0.75

Familial Colorectal Cancer: Understanding the Alphabet Soup. Clin Colon Rectal Surg (2016) 0.75

Multidisciplinary surgical management of Cowden syndrome: Report of a case. J Clin Exp Dent (2016) 0.75

Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment? Biomed Res Int (2015) 0.75

CanVar: A resource for sharing germline variation in cancer patients. F1000Res (2016) 0.75

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. Genome Med (2017) 0.75

Helicobacter pylori and colorectal neoplasia: Is there a causal link? World J Gastroenterol (2016) 0.75

Regulation of the metastasis suppressor Nm23-H1 by tumor viruses. Naunyn Schmiedebergs Arch Pharmacol (2014) 0.75

Sdhd ablation promotes thyroid tumorigenesis by inducing a stem-like phenotype. Endocr Relat Cancer (2017) 0.75

Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes. Oncogenesis (2017) 0.75

Hereditary neoplasia syndromes and the role of the surgeon. Fam Cancer (2007) 0.75

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

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

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

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

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

APC-dependent suppression of colon carcinogenesis by PPARgamma. Proc Natl Acad Sci U S A (2002) 1.89

Cancer risks for relatives of patients with serrated polyposis. Am J Gastroenterol (2012) 1.88

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

Methylation not a frequent "second hit" in tumors with germline BRCA mutations. Fam Cancer (2009) 1.78

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

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. J Clin Oncol (2008) 1.56

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

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

Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics. PLoS One (2010) 1.36

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

Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study. Int J Colorectal Dis (2010) 1.27

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

A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA (2004) 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

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

Evidence of MEN-2 in the original description of classic pheochromocytoma. N Engl J Med (2007) 1.24

Microenvironmental genomic alterations and clinicopathological behavior in head and neck squamous cell carcinoma. JAMA (2007) 1.24

Increased nuclear phosphatase and tensin homologue deleted on chromosome 10 is associated with G0-G1 in MCF-7 cells. Cancer Res (2003) 1.24

Renal cancer in von Hippel-Lindau disease and related syndromes. Nat Rev Nephrol (2013) 1.23

Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation. Nat Clin Pract Endocrinol Metab (2008) 1.22

Family history of cancer and cancer risks in women with BRCA1 or BRCA2 mutations. J Natl Cancer Inst (2010) 1.21

Familial risks for nonmedullary thyroid cancer. J Clin Endocrinol Metab (2005) 1.20

Unregulated smooth-muscle myosin in human intestinal neoplasia. Proc Natl Acad Sci U S A (2008) 1.20

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

PTEN autoregulates its expression by stabilization of p53 in a phosphatase-independent manner. Cancer Res (2006) 1.19

When overgrowth bumps into cancer: the PTEN-opathies. Am J Med Genet C Semin Med Genet (2013) 1.18

Mammalian target of rapamycin (mTOR) regulates cellular proliferation and tumor growth in urothelial carcinoma. Am J Pathol (2010) 1.17

Papillary and follicular thyroid carcinomas show distinctly different microarray expression profiles and can be distinguished by a minimum of five genes. J Clin Oncol (2004) 1.16

Activation of the PI3K/AKT pathway induces urothelial carcinoma of the renal pelvis: identification in human tumors and confirmation in animal models. Cancer Res (2009) 1.15

Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. Clin Endocrinol (Oxf) (2003) 1.14

Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. J Clin Endocrinol Metab (2004) 1.14

Genetic classification of benign and malignant thyroid follicular neoplasia based on a three-gene combination. J Clin Endocrinol Metab (2005) 1.14

Teaching genomic counseling: preparing the genetic counseling workforce for the genomic era. J Genet Couns (2014) 1.14

The ERK1/2 pathway modulates nuclear PTEN-mediated cell cycle arrest by cyclin D1 transcriptional regulation. Hum Mol Genet (2006) 1.13

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Hum Mutat (2011) 1.12

PTEN blocks insulin-mediated ETS-2 phosphorylation through MAP kinase, independently of the phosphoinositide 3-kinase pathway. Hum Mol Genet (2002) 1.11

Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer. Hum Mol Genet (2006) 1.11