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Lookup NU author(s): Dr Fiona Douglas
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Patients with germline PTEN mutations are at high risk of developing benign and malignant tumours. We aimed to evaluate the cumulative risk of several types of cancer and of dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease, LDD). In addition, genotype-phenotype correlations in PTEN hamartoma tumour syndrome (PHTS) were assessed. Data on patients with PTEN mutations were collected from clinical genetic centres in Western Europe, Australia, and the USA. The cumulative risk of developing cancers of the breast, thyroid, endometrium, skin, kidneys, colorectum, and lungs, and also LDD was calculated by Kaplan-Meier methods. Associations between mutations and cancer were assessed by Chi square means. A total of 180 germline PTEN mutation carriers, 81 males (45 %), from nine countries were included. The cumulative risk of developing any cancer and/or LDD at age 60 was 56 % for males and 87 % for females (p = 0.001). Females had significant higher risks of developing breast cancer, thyroid cancer, and LDD than males. The only genotype-phenotype correlation identified was a lower frequency of thyroid cancer in patients with missense mutations (p = 0.014). In conclusion, PHTS patients, particularly females, have a substantial risk of developing one or more tumours from a broad tumour spectrum. Major genotype-phenotype associations could not be identified.
Author(s): Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Moller P, Hes FJ, Hodgson SV, Olderode-Berends MJW, Aretz S, Heinimann K, Garcia EBG, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HFA
Publication type: Article
Publication status: Published
Journal: Familial Cancer
Year: 2014
Volume: 13
Issue: 1
Pages: 57-63
Print publication date: 11/08/2013
ISSN (print): 1389-9600
ISSN (electronic): 1573-7292
Publisher: Springer Netherlands
URL: http://dx.doi.org/10.1007/s10689-013-9674-3
DOI: 10.1007/s10689-013-9674-3
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