{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:03:02Z","timestamp":1791090182642,"version":"4.1.0"},"reference-count":15,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,11]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.35.11.886","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"886-889","source":"Crossref","is-referenced-by-count":74,"title":["Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype."],"prefix":"10.1136","volume":"35","author":[{"given":"M","family":"Longy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Coulon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Dubou\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Larr\u00e8gue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Eng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Amati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J L","family":"Kraimps","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Bottani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Lacombe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Bonneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ajmg.1320350231","article-title":"Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity","volume":"35","author":"Cohen, M.M.","year":"1990","unstructured":"Cohen MM. Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity. Am J Med Genet 1990;35:291.","journal-title":"Am J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1111\/j.1399-0004.1986.tb00816.x","article-title":"The Cowden syndrome: a clinical and genetic study in 21 patients","volume":"29","author":"Starink, T.M.; Van der Arwert, J.P.W.; De Waal, L.P.; De Lange, G.G.; Gille, J.J.P.; Eriksson, A.W.","year":"1986","unstructured":"Starink TM, Van der Arwert JPW, De Waal LP, De Lange GG, Gille JJP, Eriksson AW. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986;29:222-33.","journal-title":"Clin Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1023\/A:1025664119494","article-title":"Cowden syndrome","volume":"6","author":"Eng, C.","year":"1997","unstructured":"Eng C. Cowden syndrome. 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Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997;16:64-7.","journal-title":"Nat Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1093\/hmg\/6.8.1383","article-title":"Germline mutations in the PTEN\/MMAC1 gene in patients with Cowden disease","volume":"6","author":"Nelen, M.R.; van Staveren, W.C.; Peeters, E.A.","year":"1997","unstructured":"Nelen MR, van Staveren WC, Peeters EA, et al. Germline mutations in the PTEN\/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997;6:1383-7.","journal-title":"Hum Mol Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/ng0897-333","article-title":"Germline mutations in PTEN are present in Bannayan-Zonana syndrome","volume":"16","author":"Marsh, D.J.; Dahia, P.L.M.; Zheng, Z.","year":"1997","unstructured":"Marsh DJ, Dahia PLM, Zheng Z, et al. Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 1997;16:333-4.","journal-title":"Nat Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1943","DOI":"10.1126\/science.275.5308.1943","article-title":"PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer","volume":"275","author":"Li, J.; Yen, C.; Liaw, D.","year":"1997","unstructured":"Li J, Yen C, Liaw D, et al. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 1997;275:1943-6.","journal-title":"Science"},{"key":"ref_9","first-page":"2143","article-title":"Allelic loss on chromosome 10 in prostate adenocarcinoma","volume":"56","author":"Ittman, M.","year":"1996","unstructured":"Ittman M. Allelic loss on chromosome 10 in prostate adenocarcinoma. Cancer Res 1996;56:2143-7.","journal-title":"Cancer Res"},{"key":"ref_10","first-page":"500","article-title":"Differential loss of heterozygosity in the region of the Cowden locus within 10q22-q23 in follicular thyroid adenoma and carcinomas","volume":"57","author":"Marsh, D.J.; Zheng, Z.; Zedenius, J.","year":"1997","unstructured":"Marsh DJ, Zheng Z, Zedenius J, et al. Differential loss of heterozygosity in the region of the Cowden locus within 10q22-q23 in follicular thyroid adenoma and carcinomas. Cancer Res 1997;57:500-3.","journal-title":"Cancer Res"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1038\/ng0497-356","article-title":"Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers","volume":"15","author":"Steck, P.A.; Pershouse, M.A.; Jasser, S.A.","year":"1997","unstructured":"Steck PA, Pershouse MA, Jasser SA, et al. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 1997;15:356-62.","journal-title":"Nat Genet"},{"key":"ref_12","first-page":"2124","article-title":"TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by TGFO3","volume":"57","author":"Li, D.M.; Sun, H.","year":"1997","unstructured":"Li DM, Sun H. TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by TGFO3. Cancer Res 1997;57:2124-5.","journal-title":"Cancer Res"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/ng1097-143","article-title":"PTEN1 is frequently mutated in primary endometrial carcinomas","volume":"17","author":"Kong, D.; Suzuki, A.; Zou, T.T.","year":"1997","unstructured":"Kong D, Suzuki A, Zou TT, et al. PTEN1 is frequently mutated in primary endometrial carcinomas. Nat Genet 1997;17:143-4.","journal-title":"Nat Genet"},{"key":"ref_14","article-title":"Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, 2 hamartoma syndromes with germline PTEN mutation","author":"Marsh, D.J.; Coulon, V.; Lunetta, K.L.","unstructured":"Marsh DJ, Coulon V, Lunetta KL, et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, 2 hamartoma syndromes with germline PTEN mutation. Hum Mol Genet (in press).","journal-title":"Hum Mol Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<489::AID-AJMG24>3.0.CO;2-B","article-title":"Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease","volume":"71","author":"Arch, E.M.; Goodman, B.K.; Van Wesep, R.A.","year":"1997","unstructured":"Arch EM, Goodman BK, Van Wesep RA, et al. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. 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