Hamartomatous polyposis syndromes

scientific article published on 01 January 2009

Hamartomatous polyposis syndromes is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1016/J.BPG.2009.02.007
P932PMC publication ID2678968
P698PubMed publication ID19414148

P2093author name stringWendy Kohlmann
Randall W Burt
Kory Jasperson
Amanda Gammon
P2860cites workHigh proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndromeQ24647007
Hamartomatous polyposis syndromesQ24654006
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutationsQ24673663
Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndromeQ24675464
Cowden's disease. A possible new symptom complex with multiple system involvementQ28189705
PTEN: one gene, many syndromesQ28203387
Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndromeQ28250113
Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancerQ28260081
Landscaping the cancer terrainQ28272919
Peutz-Jeghers syndrome: 78-year follow-up of the original familyQ33601730
Peutz-Jeghers syndromeQ33679883
Prevention of pancreatic cancer and strategies for management of familial pancreatic cancerQ34269104
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).Q34306976
Cowden syndrome-diagnostic skin signsQ34309307
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeQ34504165
Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher's syndromeQ34506538
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlationsQ77421649
Constipation, polyps, or cancer? let PTEN predict your futureQ79098518
A solitary Peutz-Jeghers-type hamartomatous polyp in the duodenum. A case report including results of mutation analysisQ79799471
Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndromeQ80089395
Concise handbook of familial cancer susceptibility syndromes - second editionQ81468811
Genetic heterogeneity in Peutz-Jeghers syndromeQ34509444
Very high risk of cancer in familial Peutz-Jeghers syndromeQ34512286
Genotype-phenotype correlations in Peutz-Jeghers syndromeQ34547534
Relative frequency and morphology of cancers in STK11 mutation carriersQ34548485
Wireless capsule endoscopy for evaluation of phenotypic expression of small-bowel polyps in patients with Peutz-Jeghers syndrome and in symptomatic first-degree relativesQ34553092
Genetic testing for inherited colon cancerQ34557532
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndromeQ34562591
Peutz-Jeghers syndrome and management recommendationsQ34566543
Frequency and spectrum of cancers in the Peutz-Jeghers syndromeQ34567595
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriersQ34579796
Hamartomatous polyposis syndromes.Q34582357
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genesQ34658313
Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.Q34718558
Colorectal neoplasia in juvenile polyposis or juvenile polypsQ35627435
Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literatureQ35761550
Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for cliniciansQ35842042
The hamartomatous polyposis syndromes: a clinical and molecular reviewQ36018533
SMAD4 mutations found in unselected HHT patients.Q36927105
Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposisQ38428293
Cowden's disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literatureQ40272335
Ovarian sex cord tumor with annular tubules: review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervixQ40342834
Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.Q43085621
STK11 status and intussusception risk in Peutz-Jeghers syndromeQ43169975
Hereditary retinoblastoma, lipoma, and second primary cancersQ44731716
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutationQ45345194
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.Q52181417
Screening for early pancreatic neoplasia in high-risk individuals: a prospective controlled study.Q53539382
Small bowel tumours: a 10 year experience in four Sydney teaching hospitals.Q53610502
The utility of capsule endoscopy small bowel surveillance in patients with polyposis.Q54483231
Juvenile polyposis--a precancerous condition.Q54738557
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.Q54799615
Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic PolyposisQ57567716
GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestationsQ57591191
Localization of the gene for Cowden disease to chromosome 10q22–23Q57694734
A prospective trial comparing wireless capsule endoscopy and barium contrast series for small-bowel surveillance in hereditary GI polyposis syndromesQ61058090
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genesQ64044735
Bannayan-Riley-Ruvalcaba syndromeQ67509446
The Cowden syndrome: a clinical and genetic study in 21 patientsQ69486172
Peutz-Jeghers syndromeQ73531531
Cowden's disease diagnosed through mucocutaneous lesions and gastrointestinal polyposis with recurrent hematochezia, unrevealed by initial diagnosisQ73975290
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriersQ74506767
P433issue2
P921main subjectpolyposisQ2103081
P304page(s)219-231
P577publication date2009-01-01
P1433published inBest Practice and Research: Clinical GastroenterologyQ15754316
P1476titleHamartomatous polyposis syndromes
P478volume23

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cites work (P2860)
Q47126819A giant and extensive solitary Peutz-Jeghers-type polyp in the antrum of stomach: Case report
Q92582215A rare case of synchronous colocolic intussusception in association with Peutz-Jeghers syndrome
Q36416282ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes
Q99579992An unusual presentation revealing Peutz-Jeghers syndrome in adult
Q36609676Autosomal Dominant Inherited Cowden's Disease in a Family
Q64042163Balloon-assisted enteroscopy with prophylactic polypectomy for Peutz-Jeghers syndrome: experience in Taiwan
Q34203577Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes
Q62978110Clinical management of hereditary colorectal cancer syndromes
Q34661470Colorectal polyps and polyposis syndromes
Q53820708Comparison of intraoperative enteroscopy and double-balloon enteroscopy for the diagnosis and treatment of Peutz-Jeghers syndrome.
Q34487309Distinguishing Ménétrier's disease from its mimics
Q36059087Do hereditary syndrome-related gynecologic cancers have any specific features?
Q91655781Early onset Peutz-Jeghers syndrome, the importance of appropriate diagnosis and follow-up: A case report
Q37390272Endometrial cancer in a 15-year-old girl: A complication of Cowden Syndrome
Q54401186Exome sequencing revealed novel germline mutations in Chinese Peutz-Jeghers syndrome patients.
Q40728997Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation
Q33599436Gastrointestinal tract cancers: Genetics, heritability and germ line mutations
Q90748460Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine
Q82064449Giant stomach secondary to juvenile polyposis syndrome
Q28280647Hereditary and familial colon cancer
Q82339511Hereditary colorectal cancer: the pathologist's point of view
Q47387678Intramucosal lipomas of the colon implicate Cowden syndrome
Q34163651LKB1 destabilizes microtubules in myoblasts and contributes to myoblast differentiation
Q41314878Peutz-Jeghers syndrome manifested as massive melæna at CHU-JRA Madagascar hospital: a case report
Q41916766Peutz-Jeghers syndrome with early onset of pre-adolescent gynecomastia: a predigree case report and clinical and molecular genetic analysis
Q33596484Peutz-Jeghers syndrome without mucocutaneous pigmentation: a case report
Q37422996Peutz-Jeghers syndrome: diagnostic and therapeutic approach.
Q37671215Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps
Q91691350Sporadic Peutz-Jeghers syndrome: a rare cause of intussusception in a toddler with no medical history
Q90666764The missing heritability of familial colorectal cancer
Q38074867The skin: a mirror to the gut.
Q38215923Toxicogenomics and cancer susceptibility: advances with next-generation sequencing.
Q54340127[Gastrointestinal polyposis syndromes].

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