Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes
The molecular aetiology of Proteus syndrome (PS) remains elusive. Germline mutations in PTEN cause Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are hereditary hamartoma syndromes. Some features—eg, macrocephaly, lipomatosis, and vascular malformations—can be seen in all three syndrom...
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| Veröffentlicht in: | The Lancet (British edition) 2001-07, Vol.358 (9277), p.210-211 |
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| creator | Zhou, Xiao-Ping Hampel, Heather Thiele, Hannelore Gorlin, Robert J Hennekam, Raoul CM Parisi, Melissa Winter, Robin M Eng, Charis |
| description | The molecular aetiology of Proteus syndrome (PS) remains elusive. Germline mutations in
PTEN cause Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are hereditary hamartoma syndromes. Some features—eg, macrocephaly, lipomatosis, and vascular malformations—can be seen in all three syndromes. We examined
PTEN in patients with PS and undefined Proteus-like syndromes (PS-like) and identified denovo germline mutations in two of nine patients with PS and three of five patients with PS-like. Germline
PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission. |
| doi_str_mv | 10.1016/S0140-6736(01)05412-5 |
| format | Article |
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PTEN cause Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are hereditary hamartoma syndromes. Some features—eg, macrocephaly, lipomatosis, and vascular malformations—can be seen in all three syndromes. We examined
PTEN in patients with PS and undefined Proteus-like syndromes (PS-like) and identified denovo germline mutations in two of nine patients with PS and three of five patients with PS-like. Germline
PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission.</description><identifier>ISSN: 0140-6736</identifier><identifier>EISSN: 1474-547X</identifier><identifier>DOI: 10.1016/S0140-6736(01)05412-5</identifier><identifier>PMID: 11476841</identifier><identifier>CODEN: LANCAO</identifier><language>eng</language><publisher>London: Elsevier Ltd</publisher><subject>Biological and medical sciences ; Dermatology ; Disease ; Genes, Tumor Suppressor - genetics ; Germ-Line Mutation ; Hamartoma Syndrome, Multiple - genetics ; Haplotypes ; Health risks ; Heterozygote ; Humans ; Investigative techniques, diagnostic techniques (general aspects) ; Medical research ; Medical sciences ; Mutation ; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques ; Phosphoric Monoester Hydrolases - genetics ; Proteus Syndrome - genetics ; PTEN Phosphohydrolase ; Tumor Suppressor Proteins ; Tumors</subject><ispartof>The Lancet (British edition), 2001-07, Vol.358 (9277), p.210-211</ispartof><rights>2001 Elsevier Ltd</rights><rights>2001 INIST-CNRS</rights><rights>Copyright Lancet Ltd. Jul 21, 2001</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c417t-30c60e59c3c29c9321653f6beb8c16a1ed635ea08371a690563329afa87c90833</citedby><cites>FETCH-LOGICAL-c417t-30c60e59c3c29c9321653f6beb8c16a1ed635ea08371a690563329afa87c90833</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0140673601054125$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1110036$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11476841$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhou, Xiao-Ping</creatorcontrib><creatorcontrib>Hampel, Heather</creatorcontrib><creatorcontrib>Thiele, Hannelore</creatorcontrib><creatorcontrib>Gorlin, Robert J</creatorcontrib><creatorcontrib>Hennekam, Raoul CM</creatorcontrib><creatorcontrib>Parisi, Melissa</creatorcontrib><creatorcontrib>Winter, Robin M</creatorcontrib><creatorcontrib>Eng, Charis</creatorcontrib><title>Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes</title><title>The Lancet (British edition)</title><addtitle>Lancet</addtitle><description>The molecular aetiology of Proteus syndrome (PS) remains elusive. Germline mutations in
PTEN cause Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are hereditary hamartoma syndromes. Some features—eg, macrocephaly, lipomatosis, and vascular malformations—can be seen in all three syndromes. We examined
PTEN in patients with PS and undefined Proteus-like syndromes (PS-like) and identified denovo germline mutations in two of nine patients with PS and three of five patients with PS-like. Germline
PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission.</description><subject>Biological and medical sciences</subject><subject>Dermatology</subject><subject>Disease</subject><subject>Genes, Tumor Suppressor - genetics</subject><subject>Germ-Line Mutation</subject><subject>Hamartoma Syndrome, Multiple - genetics</subject><subject>Haplotypes</subject><subject>Health risks</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Medical research</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Pathology. Cytology. Biochemistry. Spectrometry. 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Academic</collection><jtitle>The Lancet (British edition)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhou, Xiao-Ping</au><au>Hampel, Heather</au><au>Thiele, Hannelore</au><au>Gorlin, Robert J</au><au>Hennekam, Raoul CM</au><au>Parisi, Melissa</au><au>Winter, Robin M</au><au>Eng, Charis</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes</atitle><jtitle>The Lancet (British edition)</jtitle><addtitle>Lancet</addtitle><date>2001-07-21</date><risdate>2001</risdate><volume>358</volume><issue>9277</issue><spage>210</spage><epage>211</epage><pages>210-211</pages><issn>0140-6736</issn><eissn>1474-547X</eissn><coden>LANCAO</coden><abstract>The molecular aetiology of Proteus syndrome (PS) remains elusive. Germline mutations in
PTEN cause Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are hereditary hamartoma syndromes. Some features—eg, macrocephaly, lipomatosis, and vascular malformations—can be seen in all three syndromes. We examined
PTEN in patients with PS and undefined Proteus-like syndromes (PS-like) and identified denovo germline mutations in two of nine patients with PS and three of five patients with PS-like. Germline
PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission.</abstract><cop>London</cop><pub>Elsevier Ltd</pub><pmid>11476841</pmid><doi>10.1016/S0140-6736(01)05412-5</doi><tpages>2</tpages></addata></record> |
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| subjects | Biological and medical sciences Dermatology Disease Genes, Tumor Suppressor - genetics Germ-Line Mutation Hamartoma Syndrome, Multiple - genetics Haplotypes Health risks Heterozygote Humans Investigative techniques, diagnostic techniques (general aspects) Medical research Medical sciences Mutation Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Phosphoric Monoester Hydrolases - genetics Proteus Syndrome - genetics PTEN Phosphohydrolase Tumor Suppressor Proteins Tumors |
| title | Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes |
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