Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
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.
Longy
M
M
Laboratoire d'Oncologie Moléculaire, Institut Bergonié, Bordeaux, France.
Coulon
V
V
Duboué
B
B
David
A
A
Larrègue
M
M
Eng
C
C
Amati
P
P
Kraimps
J L
JL
Bottani
A
A
Lacombe
D
D
Bonneau
D
D
D000293:Adolescent; D000328:Adult; D002648:Child; D005091:Exons; D005260:Female; D016147:Genes, Tumor Suppressor; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D051059:PTEN Phosphohydrolase; D010375:Pedigree; D010641:Phenotype; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D010859:Pigmentation Disorders / Q000235:genetics; D013577:Syndrome; D025521:Tumor Suppressor Proteins
D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human