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BackgroundThe most commonly reported phenotypes described in patients with PTEN mutations are Bannayan-Riley-Ruvalcaba syndrome (BRRS), with childhood onset, macrocephaly, lipomas and developmental delay, and Cowden Syndrome (CS), an adult-onset condition recognised by mucocutaneous signs, with a risk of cancers, in particular those of the thyroid and breast. It has been suggested that BRRS and CS are the same condition, but the literature continues to separate them and seek a genotype-phenotype correlation.ObjectiveTo study the clinical features of patients with known PTEN mutations and observe any genotype-phenotype correlation.MethodsIn total, 42 people (25 probands and 17 non-probands) from 26 families of all ages with PTEN mutations were recruited through the UK clinical genetics services. A full clinical history and examination were undertaken.ResultsWe were unable to demonstrate a genotype-phenotype correlation. Furthermore, our findings in a 31-year-old woman with CS and an exon 1 deletion refutes previous reports that whole exon deletions are only found in patients with a BRRS phenotype.ConclusionCareful phenotyping gives further support for the suggestion that BRRS and CS are actually one condition, presenting variably at different ages, as in other tumour-suppressor disorders such as neurofibromatosis type 1. This has important counselling implications, such as advice about cancer surveillance, for children diagnosed with BRRS.

Original publication




Journal article


Journal of medical genetics

Publication Date





579 - 585


Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Southampton, UK.


Humans, Hamartoma Syndrome, Multiple, Syndrome, Age Factors, Genotype, Phenotype, Penetrance, Genetic Heterogeneity, Mutation, Exons, Adolescent, Adult, Aged, Middle Aged, Child, Child, Preschool, Female, Male, PTEN Phosphohydrolase, Terminology as Topic