Genetic basis of Cowden syndrome and its implications for clinical practice and risk management

scientific article

Genetic basis of Cowden syndrome and its implications for clinical practice and risk management is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

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P356DOI10.2147/TACG.S41947
P3181OpenCitations bibliographic resource ID4562123
P932PMC publication ID4948690
P698PubMed publication ID27471403

P2093author name stringKory Jasperson
Amanda Gammon
Marjan Champine
P2860cites workCancer and Lhermitte-Duclos disease are common in Cowden syndrome patientsQ21198716
PTEN mosaicism with features of Cowden syndromeQ85653551
A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposisQ50180967
Should patients with Cowden syndrome undergo prophylactic thyroidectomy?Q50303885
Endometrial cancer in a 14-year-old girl with Cowden syndrome: a case report.Q51283622
Evaluation of germline PTEN mutations in endometrial cancer patientsQ56928438
BeyondBRCA1andBRCA2wild-type breast and/or ovarian cancer families: germline mutations inTP53andPTENQ57083821
First Report of Ovarian Dysgerminoma in Cowden Syndrome with Germline PTEN Mutation and PTEN-related 10q Loss of Tumor HeterozygosityQ57590980
Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomasQ57591220
Localization of the gene for Cowden disease to chromosome 10q22–23Q57694734
Endometrial Cancer in an AdolescentQ60167344
The Cowden syndrome: a clinical and genetic study in 21 patientsQ69486172
Multiple hamartoma syndrome presenting with oral lesionsQ71712580
Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignanciesQ73722520
Germline mutations in the breast cancer susceptibility gene PTEN are rare in high-risk non-BRCA1/2 French Canadian breast cancer familiesQ80629440
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entityQ83054848
Cowden syndromeQ84877384
Thyroid nodules and cancer in children with PTEN hamartoma tumor syndromeQ85229853
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine modelQ22337253
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphataseQ24322705
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probandsQ24606333
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromesQ24649528
Will the real Cowden syndrome please stand up: revised diagnostic criteriaQ24681567
Cowden's disease. A possible new symptom complex with multiple system involvementQ28189705
Male breast cancer in Cowden syndrome patients with germline PTEN mutationsQ28359884
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndromeQ29615538
Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in AdultsQ33905657
Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutationsQ34173563
Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancerQ34321254
Frequency of germline PTEN mutations in differentiated thyroid cancerQ34975154
The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.Q35250021
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 alterationsQ35597950
Lifetime cancer risks in individuals with germline PTEN mutations.Q35681689
Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.Q35747115
Upper and Lower Gastrointestinal Findings in PTEN Mutation-Positive Cowden Syndrome Patients Participating in an Active Surveillance ProgramQ36002740
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndromeQ36837037
Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriersQ36839671
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndromeQ36847856
Do you know this syndrome?Q37233793
PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?Q37247172
Cowden syndrome: a critical review of the clinical literatureQ37313091
Cognitive characteristics of PTEN hamartoma tumor syndromesQ37640770
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polypsQ37671215
Cutaneous manifestations of gastrointestinal disease: part I.Q38073970
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteriaQ38153670
Somatic alterations in the melanoma genome: a high-resolution array-based comparative genomic hybridization studyQ39693657
Cowden's disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literatureQ40272335
Novel mutation identified in Cowden syndrome presenting as a gastric adenocarcinomaQ44070914
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndromeQ44636065
A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencingQ44947400
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutationQ45345194
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical featuresQ46077160
Chemoprevention and treatment of experimental Cowden's disease by mTOR inhibition with rapamycinQ46403725
Brain magnetic resonance imaging in patients with Cowden syndromeQ48974595
P275copyright licenseCreative Commons Attribution-NonCommercial 3.0 UnportedQ18810331
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P304page(s)83-92
P577publication date2016-01-01
P1433published inThe Application of Clinical GeneticsQ15817525
P1476titleGenetic basis of Cowden syndrome and its implications for clinical practice and risk management
P478volume9

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cites work (P2860)
Q57646614Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing
Q54893685Facial papules as a marker of cancer predisposition syndrome.
Q47899152Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up
Q39110230Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient.
Q90139197Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: a Systematic Review
Q46546002The PI3K Pathway in Human Disease

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