Challenges in the management of a patient with Cowden syndrome: case report and literature review-Reference-Cited by-同舟云学术

Challenges in the management of a patient with Cowden syndrome: case report and literature review

Published:2012-04-14 Issue:1 Volume:10 Page:
ISSN:1897-4287
Container-title:Hereditary Cancer in Clinical Practice
language:en
Short-container-title:Hered Cancer Clin Pract

Author:

Melbārde-Gorkuša Inga,Irmejs Arvīds,Bērziņa Dace,Štrumfa Ilze,Āboliņš Arnis,Gardovskis Andris,Subatniece Signe,Trofimovičs Genādijs,Gardovskis Jānis,Miklaševičs Edvīns

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Oncology

Link

http://link.springer.com/content/pdf/10.1186/1897-4287-10-5.pdf

Reference18 articles.

1. Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot LH, Peeters EA, Padberg GW: Novel PTEN mutations in patients with Cowden disease: absence of clear genotypephenotype correlations. Eur J Hum Genet 1999, 7: 267–273. 10.1038/sj.ejhg.5200289

2. Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C: Localization of the gene for Cowden disease to 10q22–23. Nat Genet 1996, 13: 114–116. 10.1038/ng0596-114

3. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al.: Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998, 7: 507–515. 10.1093/hmg/7.3.507

4. Pilarski R: Cowden syndrome: a critical review of the clinical literature. J Genet Couns 2009, 18: 13–27. 10.1007/s10897-008-9187-7

5. Riegert-Johnson DL, Gleeson FC, Roberts M, Tholen K, Youngborg L, Bullock M, Boardman LA: Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract 2010, 8: 6. 10.1186/1897-4287-8-6

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2. Sclerotherapy for atypical oral manifestation of Cowden syndrome;Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology;2020-10

3. Multiplex assessment of protein variant abundance by massively parallel sequencing;Nature Genetics;2018-05-21

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5. Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature;BMC Research Notes;2016-08-04