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PMID: 9832032 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

Journal of medical genetics ·Vol. 35 ·No. 11 ·1998-11-00 ·Pages 886-9

Longy M, Coulon V, Duboué B, David A, Larrègue M, Eng C, Amati P, Kraimps JL, Bottani A, Lacombe D, Bonneau D

Abstract

We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q.

MeSH Terms

Adolescent Adult Child Exons Female Genes, Tumor Suppressor Hamartoma Syndrome, Multiple/genetics Humans Male Middle Aged Mutation Neoplastic Syndromes, Hereditary/genetics PTEN Phosphohydrolase Pedigree Phenotype Phosphoric Monoester Hydrolases/genetics Pigmentation Disorders/genetics Syndrome Tumor Suppressor Proteins

Chemicals

Tumor Suppressor Proteins Phosphoric Monoester Hydrolases PTEN Phosphohydrolase PTEN protein, human

Authors & Affiliations

11 authors, click to expand affiliations / ORCID

Longy M

Laboratoire d'Oncologie Moléculaire, Institut Bergonié, Bordeaux, France.

Coulon V

Duboué B

David A

Larrègue M

Eng C

Amati P

Kraimps J L

Bottani A

Lacombe D

Bonneau D

References (13)

13 references, click to expand

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PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer.
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Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers.
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Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
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TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta.
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Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
Hum Mol Genet. 1997 Aug;6(8):1383-7 PMID: 9259288
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.
Am J Med Genet. 1997 Sep 5;71(4):489-93 PMID: 9286463
PTEN1 is frequently mutated in primary endometrial carcinomas.
Nat Genet. 1997 Oct;17(2):143-4 PMID: 9326929
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Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity.
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Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.35.11.886

Published

1998-11-00

Pages

886-9

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1051478

Subset

External Links

PubMed source DOI: 10.1136/jmg.35.11.886 PMC Full Text View journal details

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Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

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