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Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.

Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Møller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gómez García EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF.

Fam Cancer. 2014 Mar;13(1):57-63. doi: 10.1007/s10689-013-9674-3.


High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F; French Cowden Disease Network.

J Med Genet. 2013 Apr;50(4):255-63. doi: 10.1136/jmedgenet-2012-101339. Epub 2013 Jan 18.


Lifetime cancer risks in individuals with germline PTEN mutations.

Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C.

Clin Cancer Res. 2012 Jan 15;18(2):400-7. doi: 10.1158/1078-0432.CCR-11-2283.


Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

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.

Hum Mol Genet. 1998 Mar;7(3):507-15.


Is colorectal surveillance indicated in patients with PTEN mutations?

Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Colas C, Möller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gomez Garcia EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF.

Colorectal Dis. 2012 Sep;14(9):e562-6. doi: 10.1111/j.1463-1318.2012.03121.x.


Breast cancer risk and clinical implications for germline PTEN mutation carriers.

Ngeow J, Sesock K, Eng C.

Breast Cancer Res Treat. 2017 Aug;165(1):1-8. doi: 10.1007/s10549-015-3665-z. Epub 2015 Dec 23. Review.


Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.

Mester JL, Tilot AK, Rybicki LA, Frazier TW 2nd, Eng C.

Eur J Hum Genet. 2011 Jul;19(7):763-8. doi: 10.1038/ejhg.2011.20. Epub 2011 Feb 23.


PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.

Chen XY, Lu F, Wang YM, Yang Y, Wei GQ, Wu D, Wang LF, Wu YM.

Clin Genet. 2014 Oct;86(4):349-54. doi: 10.1111/cge.12282. Epub 2013 Oct 25.


PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al.

Hum Mol Genet. 1999 Aug;8(8):1461-72.


Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.

Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R.

Nat Genet. 1997 May;16(1):64-7.


Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

Ngeow J, Stanuch K, Mester JL, Barnholtz-Sloan JS, Eng C.

J Clin Oncol. 2014 Jun 10;32(17):1818-24. doi: 10.1200/JCO.2013.53.6656. Epub 2014 Apr 28.


Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.

Zhou XP, Marsh DJ, Morrison CD, Chaudhury AR, Maxwell M, Reifenberger G, Eng C.

Am J Hum Genet. 2003 Nov;73(5):1191-8. Epub 2003 Oct 17.


Severe Lhermitte-Duclos disease with unique germline mutation of PTEN.

Sutphen R, Diamond TM, Minton SE, Peacocke M, Tsou HC, Root AW.

Am J Med Genet. 1999 Feb 12;82(4):290-3.


Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

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.

Eur J Hum Genet. 1999 Apr;7(3):267-73.


Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.

Ngeow J, He X, Mester JL, Lei J, Romigh T, Orloff MS, Milas M, Eng C.

J Clin Endocrinol Metab. 2012 Dec;97(12):E2320-7. doi: 10.1210/jc.2012-2944. Epub 2012 Oct 12.


PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.

Piccione M, Fragapane T, Antona V, Giachino D, Cupido F, Corsello G.

Am J Med Genet A. 2013 Nov;161A(11):2902-8. doi: 10.1002/ajmg.a.36266. Epub 2013 Oct 7.


Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations.

Sherman SK, Maxwell JE, Qian Q, Bellizzi AM, Braun TA, Iannettoni MD, Darbro BW, Howe JR.

Cancer Genet. 2015 Jan-Feb;208(1-2):41-6. doi: 10.1016/j.cancergen.2014.11.002. Epub 2014 Nov 15.


Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer.

Shiovitz S, Everett J, Huang SC, Orloff MS, Eng C, Gruber SB.

Breast Cancer Res Treat. 2010 Nov;124(2):459-65. doi: 10.1007/s10549-010-0839-6. Epub 2010 Mar 27.


Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

Heald B, Mester J, Rybicki L, Orloff MS, Burke CA, Eng C.

Gastroenterology. 2010 Dec;139(6):1927-33. doi: 10.1053/j.gastro.2010.06.061. Epub 2010 Jun 27.


Clinical Implications for Germline PTEN Spectrum Disorders.

Ngeow J, Sesock K, Eng C.

Endocrinol Metab Clin North Am. 2017 Jun;46(2):503-517. doi: 10.1016/j.ecl.2017.01.013. Epub 2017 Mar 18. Review.


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