Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer (Q34321254)

1 August 2017

Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer (English)

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1 August 2017

Brian Shuch

1

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1 August 2017

Christopher J Ricketts

2

1 reference

1 August 2017

Cathy D Vocke

3

1 reference

1 August 2017

Takefumi Komiya

4

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1 August 2017

Lindsay A Middelton

5

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1 August 2017

Eric C Kauffman

6

1 reference

1 August 2017

Maria J Merino

7

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1 August 2017

Adam R Metwalli

8

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1 August 2017

Phillip Dennis

9

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1 August 2017

W Marston Linehan

10

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1 August 2017

language of work or name

English

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publication date

11 June 2013

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1 August 2017

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1 August 2017

190

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1 August 2017

1990-1998

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1 August 2017

6

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Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Genetic basis of kidney cancer: role of genomics for the development of disease-based therapeutics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Mutation of a single allele of the cancer susceptibility gene BRCA1 leads to genomic instability in human breast epithelial cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

The genetic basis of kidney cancer: a metabolic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

VHL and PTEN loss coordinate to promote mouse liver vascular lesions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Germline SDHB mutations and familial renal cell carcinoma.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

pVHL and PTEN tumour suppressor proteins cooperatively suppress kidney cyst formation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Tenets of PTEN tumor suppression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

The UOK 257 cell line: a novel model for studies of the human Birt-Hogg-Dubé gene pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

The tuberous sclerosis complex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Cowden's disease. A possible new symptom complex with multiple system involvement

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

A population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Renal tumors associated with germline SDHB mutation show distinctive morphology.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

The mammalian target of rapamycin pathway is widely activated without PTEN deletion in renal cell carcinoma metastases.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Chemoprevention and treatment of experimental Cowden's disease by mTOR inhibition with rapamycin

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Potential histologic and molecular predictors of response to temsirolimus in patients with advanced renal cell carcinoma

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4193347

Renal Tumors in the Birt-Hogg-Dubé Syndrome

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23764071

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23764071

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23764071

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JURO.2013.06.012

1 reference

1 August 2017

1 reference

1 August 2017

1 reference