{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T23:50:56Z","timestamp":1768521056403,"version":"3.49.0"},"reference-count":59,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2014,3,8]],"date-time":"2014-03-08T00:00:00Z","timestamp":1394236800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2014,9]]},"DOI":"10.1007\/s10689-014-9709-4","type":"journal-article","created":{"date-parts":[[2014,3,7]],"date-time":"2014-03-07T09:49:07Z","timestamp":1394185747000},"page":"459-467","source":"Crossref","is-referenced-by-count":14,"title":["Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome"],"prefix":"10.1007","volume":"13","author":[{"given":"Erin E.","family":"Salo-Mullen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinru","family":"Shia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isaac","family":"Brownell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Allen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Girotra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark E.","family":"Robson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth","family":"Offit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose G.","family":"Guillem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnold J.","family":"Markowitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsofia K.","family":"Stadler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,3,8]]},"reference":[{"issue":"1","key":"9709_CR1","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1038\/ng0596-114","volume":"13","author":"MR Nelen","year":"1996","unstructured":"Nelen MR, Padberg GW, Peeters EA et al (1996) Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 13(1):114\u2013116. doi: 10.1038\/ng0596-114","journal-title":"Nat Genet"},{"issue":"1","key":"9709_CR2","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/ng0597-64","volume":"16","author":"D Liaw","year":"1997","unstructured":"Liaw D, Marsh DJ, Li J et al (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16(1):64\u201367. doi: 10.1038\/ng0597-64","journal-title":"Nat Genet"},{"issue":"8","key":"9709_CR3","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1093\/hmg\/6.8.1383","volume":"6","author":"MR Nelen","year":"1997","unstructured":"Nelen MR, van Staveren WC, Peeters EA et al (1997) Germline mutations in the PTEN\/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 6(8):1383\u20131387","journal-title":"Hum Mol Genet"},{"issue":"9","key":"9709_CR4","first-page":"819","volume":"14","author":"J Mester","year":"2012","unstructured":"Mester J, Eng C (2012) Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. Genet Med Off J Am Coll Med Genet 14(9):819\u2013822. doi: 10.1038\/gim.2012.51","journal-title":"Genet Med Off J Am Coll Med Genet"},{"issue":"3","key":"9709_CR5","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/sj.ejhg.5200289","volume":"7","author":"MR Nelen","year":"1999","unstructured":"Nelen MR, Kremer H, Konings IB et al (1999) Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. European journal of human genetics EJHG 7(3):267\u2013273. doi: 10.1038\/sj.ejhg.5200289","journal-title":"European journal of human genetics EJHG"},{"issue":"11","key":"9709_CR6","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1136\/jmg.37.11.828","volume":"37","author":"C Eng","year":"2000","unstructured":"Eng C (2000) Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 37(11):828\u2013830","journal-title":"J Med Genet"},{"issue":"5","key":"9709_CR7","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1093\/ajcp\/97.5.705","volume":"97","author":"H Haibach","year":"1992","unstructured":"Haibach H, Burns TW, Carlson HE, Burman KD, Deftos LJ (1992) Multiple hamartoma syndrome (Cowden\u2019s disease) associated with renal cell carcinoma and primary neuroendocrine carcinoma of the skin (Merkel cell carcinoma). Am J Clin Pathol 97(5):705\u2013712","journal-title":"Am J Clin Pathol"},{"issue":"1","key":"9709_CR8","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/S0046-8177(98)90389-6","volume":"29","author":"CA Schrager","year":"1998","unstructured":"Schrager CA, Schneider D, Gruener AC, Tsou HC, Peacocke M (1998) Clinical and pathological features of breast disease in Cowden\u2019s syndrome: an underrecognized syndrome with an increased risk of breast cancer. Hum Pathol 29(1):47\u201353","journal-title":"Hum Pathol"},{"issue":"1","key":"9709_CR9","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1038\/nrc2037","volume":"7","author":"KM Zbuk","year":"2007","unstructured":"Zbuk KM, Eng C (2007) Cancer phenomics: rET and PTEN as illustrative models. Nat Rev Cancer 7(1):35\u201345. doi: 10.1038\/nrc2037","journal-title":"Nat Rev Cancer"},{"issue":"21","key":"9709_CR10","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1093\/jnci\/djt277","volume":"105","author":"R Pilarski","year":"2013","unstructured":"Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (2013) Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 105(21):1607\u20131616. doi: 10.1093\/jnci\/djt277","journal-title":"J Natl Cancer Inst"},{"key":"9709_CR11","unstructured":"National comprehensive cancer network. Genetic\/familial high-risk assessment: breast and ovarian. (Version 1.2013). http:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/genetics_screening.pdf . Accessed 9 April 2013"},{"issue":"3","key":"9709_CR12","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1093\/hmg\/7.3.507","volume":"7","author":"DJ Marsh","year":"1998","unstructured":"Marsh DJ, Coulon V, Lunetta KL et al (1998) Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 7(3):507\u2013515","journal-title":"Hum Mol Genet"},{"issue":"2","key":"9709_CR13","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1086\/377109","volume":"73","author":"XP Zhou","year":"2003","unstructured":"Zhou XP, Waite KA, Pilarski R et al (2003) Germline PTEN promoter mutations and deletions in Cowden\/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase\/Akt pathway. Am J Hum Genet 73(2):404\u2013411. doi: 10.1086\/377109","journal-title":"Am J Hum Genet"},{"issue":"10","key":"9709_CR14","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1136\/jmg.2008.058131","volume":"45","author":"F Chibon","year":"2008","unstructured":"Chibon F, Primois C, Bressieux JM et al (2008) Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach. J Med Genet 45(10):657\u2013665. doi: 10.1136\/jmg.2008.058131","journal-title":"J Med Genet"},{"issue":"9","key":"9709_CR15","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1136\/jmg.2007.049981","volume":"44","author":"KL Lachlan","year":"2007","unstructured":"Lachlan KL, Lucassen AM, Bunyan D, Temple IK (2007) Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet 44(9):579\u2013585. doi: 10.1136\/jmg.2007.049981","journal-title":"J Med Genet"},{"issue":"41","key":"9709_CR16","doi-asserted-by":"crossref","first-page":"5387","DOI":"10.1038\/onc.2008.237","volume":"27","author":"MS Orloff","year":"2008","unstructured":"Orloff MS, Eng C (2008) Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. Oncogene 27(41):5387\u20135397. doi: 10.1038\/onc.2008.237","journal-title":"Oncogene"},{"issue":"1","key":"9709_CR17","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.ajhg.2010.11.013","volume":"88","author":"MH Tan","year":"2011","unstructured":"Tan MH, Mester J, Peterson C et al (2011) A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet 88(1):42\u201356. doi: 10.1016\/j.ajhg.2010.11.013","journal-title":"Am J Hum Genet"},{"issue":"4","key":"9709_CR18","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1136\/jmedgenet-2012-101339","volume":"50","author":"V Bubien","year":"2013","unstructured":"Bubien V, Bonnet F, Brouste V et al (2013) High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 50(4):255\u2013263. doi: 10.1136\/jmedgenet-2012-101339","journal-title":"J Med Genet"},{"key":"9709_CR19","author":"A Gammon","year":"2012","unstructured":"Gammon A, Jasperson K, Pilarski R, Prior T, Kuwada S (2012) PTEN mosaicism with features of Cowden syndrome. Clin Genet. doi: 10.1111\/cge.12078","journal-title":"Clin Genet"},{"key":"9709_CR20","author":"CC Pritchard","year":"2013","unstructured":"Pritchard CC, Smith C, Marushchak T et al (2013) A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing. Genet Med Off J Am Coll Med Genet. doi: 10.1038\/gim.2013.51","journal-title":"Genet Med Off J Am Coll Med Genet"},{"issue":"2","key":"9709_CR21","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0168-9525(00)02178-8","volume":"17","author":"B Gottlieb","year":"2001","unstructured":"Gottlieb B, Beitel LK, Trifiro MA (2001) Somatic mosaicism and variable expressivity. Trends Genet TIG 17(2):79\u201382","journal-title":"Trends Genet TIG"},{"issue":"10","key":"9709_CR22","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1038\/nrg906","volume":"3","author":"H Youssoufian","year":"2002","unstructured":"Youssoufian H, Pyeritz RE (2002) Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 3(10):748\u2013758. doi: 10.1038\/nrg906","journal-title":"Nat Rev Genet"},{"issue":"2","key":"9709_CR23","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1136\/jmg.40.2.109","volume":"40","author":"L Kluwe","year":"2003","unstructured":"Kluwe L, Mautner V, Heinrich B et al (2003) Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet 40(2):109\u2013114","journal-title":"J Med Genet"},{"issue":"6","key":"9709_CR24","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1136\/jmg.40.6.459","volume":"40","author":"A Moyhuddin","year":"2003","unstructured":"Moyhuddin A, Baser ME, Watson C et al (2003) Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. J Med Genet 40(6):459\u2013463","journal-title":"J Med Genet"},{"issue":"7","key":"9709_CR25","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1136\/jmg.2006.047753","volume":"44","author":"DG Evans","year":"2007","unstructured":"Evans DG, Ramsden RT, Shenton A et al (2007) Mosaicism in neurofibromatosis type 2: an update of risk based on uni\/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet 44(7):424\u2013428. doi: 10.1136\/jmg.2006.047753","journal-title":"J Med Genet"},{"issue":"3","key":"9709_CR26","first-page":"727","volume":"63","author":"DG Evans","year":"1998","unstructured":"Evans DG, Wallace AJ, Wu CL, Trueman L, Ramsden RT, Strachan T (1998) Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. Am J Hum Genet 63(3):727\u2013736. doi: 10.1086\/512074","journal-title":"Am J Hum Genet"},{"issue":"1","key":"9709_CR27","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1136\/gut.2006.117796","volume":"57","author":"FJ Hes","year":"2008","unstructured":"Hes FJ, Nielsen M, Bik EC et al (2008) Somatic APC mosaicism: an underestimated cause of polyposis coli. Gut 57(1):71\u201376. doi: 10.1136\/gut.2006.117796","journal-title":"Gut"},{"issue":"6","key":"9709_CR28","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1111\/j.1582-4934.2007.00122.x","volume":"11","author":"L Santarpia","year":"2007","unstructured":"Santarpia L, Sarlis NJ, Santarpia M, Sherman SI, Trimarchi F, Benvenga S (2007) Mosaicism in von Hippel-Lindau disease: an event important to recognize. J Cell Mol Med 11(6):1408\u20131415. doi: 10.1111\/j.1582-4934.2007.00122.x","journal-title":"J Cell Mol Med"},{"issue":"1","key":"9709_CR29","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<114::AID-HUMU20>3.0.CO;2-7","volume":"15","author":"A Murgia","year":"2000","unstructured":"Murgia A, Martella M, Vinanzi C, Polli R, Perilongo G, Opocher G (2000) Somatic mosaicism in von Hippel-Lindau Disease. Hum Mutat 15(1):114. doi: 10.1002\/(sici)1098-1004(200001)15:1<114:aid-humu20>3.0.co;2-7","journal-title":"Hum Mutat"},{"issue":"2","key":"9709_CR30","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/ajmg.a.32574","volume":"149A","author":"K Prochazkova","year":"2009","unstructured":"Prochazkova K, Pavlikova K, Minarik M, Sumerauer D, Kodet R, Sedlacek Z (2009) Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome. Am J Med Genet Part A 149A(2):206\u2013211. doi: 10.1002\/ajmg.a.32574","journal-title":"Am J Med Genet Part A"},{"issue":"20","key":"9709_CR31","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1002\/ajmg.a.31456","volume":"140","author":"KW Gripp","year":"2006","unstructured":"Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K (2006) Somatic mosaicism for an HRAS mutation causes Costello syndrome. Am J Med Genet Part A 140(20):2163\u20132169. doi: 10.1002\/ajmg.a.31456","journal-title":"Am J Med Genet Part A"},{"issue":"2","key":"9709_CR32","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1002\/humu.10305","volume":"23","author":"M Upadhyaya","year":"2004","unstructured":"Upadhyaya M, Han S, Consoli C et al (2004) Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Hum Mutat 23(2):134\u2013146. doi: 10.1002\/humu.10305","journal-title":"Hum Mutat"},{"issue":"6","key":"9709_CR33","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1136\/jmg.35.6.468","volume":"35","author":"SA Rasmussen","year":"1998","unstructured":"Rasmussen SA, Colman SD, Ho VT et al (1998) Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. J Med Genet 35(6):468\u2013471","journal-title":"J Med Genet"},{"issue":"2","key":"9709_CR34","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/humu.21418","volume":"32","author":"L Messiaen","year":"2011","unstructured":"Messiaen L, Vogt J, Bengesser K et al (2011) Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat 32(2):213\u2013219. doi: 10.1002\/humu.21418","journal-title":"Hum Mutat"},{"issue":"5","key":"9709_CR35","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/(SICI)1098-1004(1997)9:5<452::AID-HUMU12>3.0.CO;2-1","volume":"9","author":"PJ Ainsworth","year":"1997","unstructured":"Ainsworth PJ, Chakraborty PK, Weksberg R (1997) Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion. Hum Mutat 9(5):452\u2013457. doi: 10.1002\/(sici)1098-1004(1997)9:5<452:aid-humu12>3.0.co;2-1","journal-title":"Hum Mutat"},{"issue":"6","key":"9709_CR36","doi-asserted-by":"crossref","first-page":"1632","DOI":"10.1086\/302412","volume":"64","author":"S Verhoef","year":"1999","unstructured":"Verhoef S, Bakker L, Tempelaars AM et al (1999) High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet 64(6):1632\u20131637. doi: 10.1086\/302412","journal-title":"Am J Hum Genet"},{"issue":"5","key":"9709_CR37","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1002\/humu.20940","volume":"30","author":"D Rushlow","year":"2009","unstructured":"Rushlow D, Piovesan B, Zhang K et al (2009) Detection of mosaic RB1 mutations in families with retinoblastoma. Hum Mutat 30(5):842\u2013851. doi: 10.1002\/humu.20940","journal-title":"Hum Mutat"},{"issue":"3","key":"9709_CR38","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1086\/301766","volume":"62","author":"KC Sippel","year":"1998","unstructured":"Sippel KC, Fraioli RE, Smith GD et al (1998) Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet 62(3):610\u2013619. doi: 10.1086\/301766","journal-title":"Am J Hum Genet"},{"issue":"7","key":"9709_CR39","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/gm168","volume":"2","author":"C Robberecht","year":"2010","unstructured":"Robberecht C, Fryns JP, Vermeesch JR (2010) Piecing together the problems in diagnosing low-level chromosomal mosaicism. Genome Med 2(7):47. doi: 10.1186\/gm168","journal-title":"Genome Med"},{"key":"9709_CR40","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/978-1-61779-507-7_12","volume":"838","author":"JP Dumanski","year":"2012","unstructured":"Dumanski JP, Piotrowski A (2012) Structural genetic variation in the context of somatic mosaicism. Methods Mol Biol (Clifton, NJ) 838:249\u2013272. doi: 10.1007\/978-1-61779-507-7_12","journal-title":"Methods Mol Biol (Clifton, NJ)"},{"issue":"6","key":"9709_CR41","doi-asserted-by":"crossref","first-page":"2393","DOI":"10.1002\/1097-0142(197806)41:6<2393::AID-CNCR2820410644>3.0.CO;2-K","volume":"41","author":"MH Brownstein","year":"1978","unstructured":"Brownstein MH, Wolf M, Bikowski JB (1978) Cowden\u2019s disease: a cutaneous marker of breast cancer. Cancer 41(6):2393\u20132398","journal-title":"Cancer"},{"issue":"3","key":"9709_CR42","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1111\/j.1399-0004.1986.tb00816.x","volume":"29","author":"TM Starink","year":"1986","unstructured":"Starink TM, van der Veen JP, Arwert F et al (1986) The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 29(3):222\u2013233","journal-title":"Clin Genet"},{"issue":"1","key":"9709_CR43","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s10897-008-9187-7","volume":"18","author":"R Pilarski","year":"2009","unstructured":"Pilarski R (2009) Cowden syndrome: a critical review of the clinical literature. J Genet Couns 18(1):13\u201327. doi: 10.1007\/s10897-008-9187-7","journal-title":"J Genet Couns"},{"issue":"1","key":"9709_CR44","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/ng.2007.39","volume":"40","author":"LH Saal","year":"2008","unstructured":"Saal LH, Gruvberger-Saal SK, Persson C et al (2008) Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair. Nat Genet 40(1):102\u2013107. doi: 10.1038\/ng.2007.39","journal-title":"Nat Genet"},{"issue":"7418","key":"9709_CR45","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1038\/nature11412","volume":"490","author":"Cancer Genome Atlas Network","year":"2012","unstructured":"Cancer Genome Atlas Network (2012) Comprehensive molecular portraits of human breast tumours. Nature 490(7418):61\u201370. doi: 10.1038\/nature11412","journal-title":"Nature"},{"issue":"10","key":"9709_CR46","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1097\/00000478-198410000-00005","volume":"8","author":"GJ Carlson","year":"1984","unstructured":"Carlson GJ, Nivatvongs S, Snover DC (1984) Colorectal polyps in Cowden\u2019s disease (multiple hamartoma syndrome). Am J Surg Pathol 8(10):763\u2013770","journal-title":"Am J Surg Pathol"},{"issue":"1","key":"9709_CR47","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1097\/00004836-199401000-00011","volume":"18","author":"G Marra","year":"1994","unstructured":"Marra G, Armelao F, Vecchio FM, Percesepe A, Anti M (1994) Cowden\u2019s disease with extensive gastrointestinal polyposis. J Clin Gastroenterol 18(1):42\u201347","journal-title":"J Clin Gastroenterol"},{"issue":"1","key":"9709_CR48","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1002\/ajmg.c.30020","volume":"129C","author":"A Merg","year":"2004","unstructured":"Merg A, Howe JR (2004) Genetic conditions associated with intestinal juvenile polyps. Am J Med Genet Part C Semin Med Genet 129C(1):44\u201355. doi: 10.1002\/ajmg.c.30020","journal-title":"Am J Med Genet Part C Semin Med Genet"},{"issue":"2","key":"9709_CR49","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1007\/BF01300711","volume":"31","author":"BA Lashner","year":"1986","unstructured":"Lashner BA, Riddell RH, Winans CS (1986) Ganglioneuromatosis of the colon and extensive glycogenic acanthosis in Cowden\u2019s disease. Dig Dis Sci 31(2):213\u2013216","journal-title":"Dig Dis Sci"},{"issue":"6","key":"9709_CR50","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1053\/j.gastro.2010.06.061","volume":"139","author":"B Heald","year":"2010","unstructured":"Heald B, Mester J, Rybicki L, Orloff MS, Burke CA, Eng C (2010) Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology 139(6):1927\u20131933. doi: 10.1053\/j.gastro.2010.06.061","journal-title":"Gastroenterology"},{"issue":"1","key":"9709_CR51","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1001\/jama.1977.03280010026005","volume":"238","author":"MH Brownstein","year":"1977","unstructured":"Brownstein MH, Mehregan AH, Bilowski JB (1977) Trichilemmomas in Cowden\u2019s disease. JAMA J Am Med Assoc 238(1):26","journal-title":"JAMA J Am Med Assoc"},{"issue":"6","key":"9709_CR52","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1111\/j.1365-2133.1979.tb08070.x","volume":"100","author":"MH Brownstein","year":"1979","unstructured":"Brownstein MH, Mehregan AH, Bikowski JB, Lupulescu A, Patterson JC (1979) The dermatopathology of Cowden\u2019s syndrome. Br J Dermatol 100(6):667\u2013673","journal-title":"Br J Dermatol"},{"issue":"5","key":"9709_CR53","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1016\/S0190-9622(83)70081-2","volume":"8","author":"OS Salem","year":"1983","unstructured":"Salem OS, Steck WD (1983) Cowden\u2019s disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature. J Am Acad Dermatol 8(5):686\u2013696","journal-title":"J Am Acad Dermatol"},{"issue":"6","key":"9709_CR54","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1111\/j.1399-0004.1993.tb03901.x","volume":"44","author":"AM Hanssen","year":"1993","unstructured":"Hanssen AM, Werquin H, Suys E, Fryns JP (1993) Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations. Clin Genet 44(6):281\u2013286","journal-title":"Clin Genet"},{"issue":"2","key":"9709_CR55","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1136\/jmg.32.2.117","volume":"32","author":"AM Hanssen","year":"1995","unstructured":"Hanssen AM, Fryns JP (1995) Cowden syndrome. J Med Genet 32(2):117\u2013119","journal-title":"J Med Genet"},{"issue":"4","key":"9709_CR56","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1016\/S0002-9440(10)64624-X","volume":"157","author":"A Perren","year":"2000","unstructured":"Perren A, Komminoth P, Saremaslani P et al (2000) Mutation and expression analyses reveal differential subcellular compartmentalization of PTEN in endocrine pancreatic tumors compared to normal islet cells. Am J Pathol 157(4):1097\u20131103. doi: 10.1016\/s0002-9440(10)64624-x","journal-title":"Am J Pathol"},{"issue":"5","key":"9709_CR57","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1093\/hmg\/9.5.765","volume":"9","author":"XP Zhou","year":"2000","unstructured":"Zhou XP, Marsh DJ, Hampel H, Mulliken JB, Gimm O, Eng C (2000) Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Hum Mol Genet 9(5):765\u2013768","journal-title":"Hum Mol Genet"},{"issue":"9277","key":"9709_CR58","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/S0140-6736(01)05412-5","volume":"358","author":"X Zhou","year":"2001","unstructured":"Zhou X, Hampel H, Thiele H et al (2001) Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet 358(9277):210\u2013211","journal-title":"Lancet"},{"issue":"7","key":"9709_CR59","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/sj.ejhg.5201823","volume":"15","author":"F Caux","year":"2007","unstructured":"Caux F, Plauchu H, Chibon F et al (2007) Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. Eur J Hum Genet EJHG 15(7):767\u2013773. doi: 10.1038\/sj.ejhg.5201823","journal-title":"Eur J Hum Genet EJHG"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-014-9709-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-014-9709-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-014-9709-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T21:46:13Z","timestamp":1559252773000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-014-9709-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,8]]},"references-count":59,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["9709"],"URL":"https:\/\/doi.org\/10.1007\/s10689-014-9709-4","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,8]]}}}