article Open AccessTop 1% cited
Lifetime Cancer Risks in Individuals with Germline<i>PTEN</i>Mutations
Clinical Cancer Research · 2012 · Vol. 18(2) · pp. 400–407
Min-Han Tan(Cleveland Clinic Lerner College of Medicine)Jessica L. Mester(Case Western Reserve University)Joanne Ngeow(Cleveland Clinic Lerner College of Medicine)Lisa Rybicki(Cleveland Clinic Lerner College of Medicine)Mohammed S. Orloff(Case Western Reserve University)Charis Eng✉(Cleveland Clinic Lerner College of Medicine)
Abstract
Lifetime risks for a variety of cancers, now extending to colorectal cancer, kidney cancer, and melanoma, are increased in patients with PTEN mutations. The genotype-phenotype associations here may provide new insights on PTEN structure and function. We propose a comprehensive approach to surveillance of patients with PTEN mutations.
PI3K/AKT/mTOR signaling in cancerBRCA gene mutations in cancerGenetic factors in colorectal cancerPTENCowden syndromeMedicineCancerOncologyBreast cancerGermline mutationThyroid cancerPenetranceColorectal cancer
MeSH terms
Breast NeoplasmsFemaleHamartoma Syndrome, MultipleHumansKidney NeoplasmsProspective StudiesRisk FactorsThyroid NeoplasmsColorectal NeoplasmsIncidenceEndometrial NeoplasmsGerm-Line MutationCodon, NonsensePenetranceMutation, Missense
Funding
- Cleveland Clinic
Citations
869
FWCI
26.31
field-weighted impact
References
32
Percentile
100%
vs. same field & year
Citations per year
Cited by
ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes
The American Journal of Gastroenterology · 2015 · 1,593 citations
PTEN: Multiple Functions in Human Malignant Tumors
Frontiers in Oncology · 2015 · 458 citations
References
Will the real Cowden syndrome please stand up: revised diagnostic criteria
Journal of Medical Genetics · 2000 · 559 citations
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline <i>PTEN</i> tumour suppressor gene mutations
Journal of Medical Genetics · 2005 · 782 citations
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation
Human Molecular Genetics · 1998 · 658 citations
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