Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome

• Published in: Familial cancer Vol. 13; no. 1; pp. 57 - 63
• Main Authors: Nieuwenhuis, Marry H., Kets, C. Marleen, Murphy-Ryan, Maureen, Yntema, Helger G., Evans, D. Gareth, Colas, Chrystelle, Møller, Pal, Hes, Frederik J., Hodgson, Shirley V., Olderode-Berends, Maran J. W., Aretz, Stefan, Heinimann, Karl, Gómez García, Encarna B., Douglas, Fiona, Spigelman, Allan, Timshel, Susanne, Lindor, Noralane M., Vasen, Hans F. A.
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.03.2014; Springer Nature B.V
• Subjects: Adolescent; Adult; Aged; Biomedical and Life Sciences; Biomedicine; Cancer Research; Child; Child, Preschool; Epidemiology; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Germ-Line Mutation; Hamartoma Syndrome, Multiple - genetics; Heterozygote; Human Genetics; Humans; Infant; Kaplan-Meier Estimate; Middle Aged; Mutation, Missense; Neoplasms - genetics; Original Article; PTEN Phosphohydrolase - genetics; Syndrome; Thyroid Neoplasms - genetics; Young Adult; PTEN phosphohydrolase; Multiple hamartoma syndrome; Neoplasms

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 hama...