Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. - Wikidata - awgldk - TriplyDB

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

http://www.wikidata.org/entity/Q35250337

about

Protean PTEN: form and function Hamartomatous polyposis syndromes The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia PTEN regulates tumor cell adhesion of colon carcinoma cells under dynamic conditions of fluid flow PTEN associates with the vault particles in HeLa cells Elevated mutant frequencies and increased C : G-->T : A transitions in Mlh1-/- versus Pms2-/- murine small intestinal epithelial cells Gastrointestinal tract cancers: Genetics, heritability and germ line mutations Germline PTEN mutations in Cowden syndrome-like families.Germline PTEN mutations are rare and highly penetrant Mutational spectra of PTEN/MMAC1 gene: a tumor suppressor with lipid phosphatase activity.Clinical challenges in management of familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer.Roles of protein tyrosine phosphatases in cell migration and adhesion.Genetic predisposition to breast cancer: a surgical perspective.BRCA1 and BRCA2 mutations and treatment strategies for breast cancer.Hereditary hamartomatous polyposis syndromes: understanding the disease risks as children reach adulthood.Design of a retroviral-mediated ecdysone-inducible system and its application to the expression profiling of the PTEN tumor suppressor PTEN expression causes feedback upregulation of insulin receptor substrate 2 Clinical management of hereditary breast cancer syndromes.A molecular rationale for the how, when and why of colorectal cancer screening.Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.A gene for familial juvenile polyposis maps to chromosome 18q21.1.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 carriers.Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.MCT-1 expression and PTEN deficiency synergistically promote neoplastic multinucleation through the Src/p190B signaling activation.Variation in the RAD51 gene and familial breast cancer.Characterization of familial breast cancer in Saudi Arabia Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients.Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.Polymorphisms in PTEN in breast cancer families.Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN Identification of PTEN mutations in metastatic melanoma specimens The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23 First Polish Cowden syndrome patient with confirmed PTEN gene mutation Hereditary gastrointestinal cancer syndromes.Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome Loss of Pten Disrupts the Thymic Epithelium and Alters Thymic Function.Mutation of thyroid hormone receptor-β in mice predisposes to the development of mammary tumors Next-generation sequencing in familial breast cancer patients from Lebanon Akt-regulated pathways in prostate cancer.

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Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

http://www.wikidata.org/entity/Q35250337

description

1997 nî lūn-bûn

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1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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1997 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1997年の論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年论文

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American Journal of Human Genetics

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Inherited mutations in PTEN th ...... sease, and juvenile polyposis.

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B T Gjertsen

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D Suchard

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E A Ostermeyer

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E D Lynch

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K Swisshelm

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M C King

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P2860

TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta

PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer

Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon

Cowden syndrome.

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

Cowden syndrome and Lhermitte-Duclos disease.

Mutations in the RB1 gene and their effects on transcription.

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1254-1260

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10.1086/301639

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6

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61

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Stener Kvinnsland

Ketil R. Heimdal

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13830072

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