{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:12:06Z","timestamp":1790190726542,"version":"4.1.0"},"reference-count":56,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,9]]},"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    The most commonly reported phenotypes described in patients with\n                    <jats:italic>PTEN<\/jats:italic>\n                    mutations are Bannayan\u2013Riley\u2013Ruvalcaba 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\u2013phenotype correlation.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Objective:<\/jats:bold>\n                    To study the clinical features of patients with known\n                    <jats:italic>PTEN<\/jats:italic>\n                    mutations and observe any genotype\u2013phenotype correlation.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods:<\/jats:bold>\n                    In total, 42 people (25 probands and 17 non-probands) from 26 families of all ages with\n                    <jats:italic>PTEN<\/jats:italic>\n                    mutations were recruited through the UK clinical genetics services. A full clinical history and examination were undertaken.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    We were unable to demonstrate a genotype\u2013phenotype 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.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    Careful 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.\n                  <\/jats:p>","DOI":"10.1136\/jmg.2007.049981","type":"journal-article","created":{"date-parts":[[2007,5,25]],"date-time":"2007-05-25T21:04:37Z","timestamp":1180127077000},"page":"579-585","source":"Crossref","is-referenced-by-count":175,"title":["Cowden syndrome and Bannayan\u2013Riley\u2013Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of\n                    <i>PTEN<\/i>\n                    mutation carriers"],"prefix":"10.1136","volume":"44","author":[{"given":"K L","family":"Lachlan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A 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