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Cancer phenomics: RET and PTEN as illustrative models

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Cancer phenomics: RET and PTEN as illustrative models (English)

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Charis Eng

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Kevin M Zbuk

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January 2007

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Nature Reviews Cancer

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7

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1

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35-45

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The DNA sequence and biological annotation of human chromosome

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31 March 2020

A population-based study of tumor gene expression and risk of breast cancer death among lymph node-negative patients

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A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer

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Protean PTEN: form and function

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31 March 2020

Genetic aspects of multiple endocrine neoplasia

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31 March 2020

Will the real Cowden syndrome please stand up: revised diagnostic criteria

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31 March 2020

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations

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31 March 2020

A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome

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Familial endometrial cancer in female carriers of MSH6 germline mutations

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Lynch syndrome genes

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Germline PMS2 mutations: one hit or two?

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31 March 2020

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

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31 March 2020

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

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31 March 2020

Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature

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31 March 2020

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia

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31 March 2020

Expression of the ret proto-oncogene product in human normal and neoplastic tissues of neural crest origin

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31 March 2020

Loss of function effect of RET mutations causing Hirschsprung disease.

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31 March 2020

Mutations of theRET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease

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31 March 2020

Molecular genetics of multiple endocrine neoplasia types 1 and 2.

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https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Medullary thyroid carcinoma, genes, and the prevention of cancer

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https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Frequent association between MEN 2A and cutaneous lichen amyloidosis

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https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Germ-line mutations in nonsyndromic pheochromocytoma

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https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF

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https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.

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31 March 2020

Characterization of gene expression induced by RET with MEN2A or MEN2B mutation

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31 March 2020

Genotype‐phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium

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31 March 2020

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

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31 March 2020

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

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31 March 2020

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

1 reference

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31 March 2020

Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B

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31 March 2020

Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation

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31 March 2020

Germline mutation of RET codon 883 in two cases of de novo MEN 2B.

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31 March 2020

The protein kinase family: conserved features and deduced phylogeny of the catalytic domains

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31 March 2020

Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations

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31 March 2020

RET proto-oncogene in the development of human cancer

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31 March 2020

Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease

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31 March 2020

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene

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31 March 2020

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene

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PTEN: one gene, many syndromes

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https://api.crossref.org/works/10.1038%2FNRC2037

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The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Beyond PTEN mutations: the PI3K pathway as an integrator of multiple inputs during tumorigenesis

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Tumor suppressor PTEN inhibits integrin- and growth factor-mediated mitogen-activated protein (MAP) kinase signaling pathways

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model

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https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Inhibition of cell migration, spreading, and focal adhesions by tumor suppressor PTEN

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

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Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosis

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https://api.crossref.org/works/10.1038%2FNRC2037

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Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) has nuclear localization signal-like sequences for nuclear import mediated by major vault protein

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Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome

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Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in Adults

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The Cowden syndrome: a clinical and genetic study in 21 patients

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Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

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Germline PTEN mutations in Cowden syndrome-like families.

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Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers

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https://api.crossref.org/works/10.1038%2FNRC2037

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

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

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

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https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

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

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https://api.crossref.org/works/10.1038%2FNRC2037

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Germline mutations in PTEN are present in Bannayan-Zonana syndrome

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https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Bannayan-Riley-Ruvalcaba syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

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PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

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https://api.crossref.org/works/10.1038%2FNRC2037

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Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis

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https://api.crossref.org/works/10.1038%2FNRC2037

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Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Nuclear localization of PTEN by a Ran-dependent mechanism enhances apoptosis: Involvement of an N-terminal nuclear localization domain and multiple nuclear exclusion motifs

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Nuclear PTEN-mediated growth suppression is independent of Akt down-regulation

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

PTEN: a newly identified regulator of neuronal differentiation

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

PTEN: from pathology to biology

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

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Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Prognostic value of codon 918 (ATG-->ACG) RET proto-oncogene mutations in sporadic medullary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1038%2FNRC2037

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Potent mitogenicity of the RET/PTC3 oncogene correlates with its prevalence in tall-cell variant of papillary thyroid carcinoma

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https://api.crossref.org/works/10.1038%2FNRC2037

31 March 2020

Genetic pathways to glioblastoma: a population-based study

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PTEN mutations in endometrial carcinomas: a molecular and clinicopathologic analysis of 38 cases

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Lack of PTEN expression in endometrial intraepithelial neoplasia is correlated with cancer progression

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https://api.crossref.org/works/10.1038%2FNRC2037

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RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors

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Akt promotes survival of cardiomyocytes in vitro and protects against ischemia-reperfusion injury in mouse heart.

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Phase I trial of 72-hour continuous infusion UCN-01 in patients with refractory neoplasms

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What Exactly Are Genomes, Genotypes and Phenotypes? And What About Phenomes?

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The human phenome project

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PROPHECY--a database for high-resolution phenomics

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https://api.crossref.org/works/10.1038%2FNRC2037

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PhenomicDB: a multi-species genotype/phenotype database for comparative phenomics.

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31 March 2020

"Phenome" project set to pin down subgroups of autism

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https://api.crossref.org/works/10.1038%2FNRC2037

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Identification of the von Hippel-Lindau disease tumor suppressor gene

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https://api.crossref.org/works/10.1038%2FNRC2037

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Von Recklinghausen neurofibromatosis

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A role for mitochondrial enzymes in inherited neoplasia and beyond

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Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

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A genetic model for colorectal tumorigenesis

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Highly penetrant hereditary cancer syndromes.

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A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

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The LKB1 tumor suppressor negatively regulates mTOR signaling

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A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

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Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation

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Cowden disease in a family: A clinical and genetic diagnosis

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Concurrence of germline mutations in the APC and PTEN genes in a colonic polyposis family member.

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Granular cell tumor in a PHTS patient with a novel germline PTEN mutation

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Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature

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Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome

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Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.

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31 March 2020

Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome

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31 March 2020

Cowden's disease: clinical and molecular genetic findings in a patient with a novel PTEN germline mutation

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31 March 2020

Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.

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Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

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