A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands

• Published in: American journal of human genetics Vol. 88; no. 1; pp. 42 - 56
• Main Authors: Tan, Min-Han, Mester, Jessica, Peterson, Charissa, Yang, Yiran, Chen, Jin-Lian, Rybicki, Lisa A., Milas, Kresimira, Pederson, Holly, Remzi, Berna, Orloff, Mohammed S., Eng, Charis
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 07.01.2011; Cell Press; Elsevier
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Child; Clinical medicine; Cohort Studies; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetic disorders; Genetic Testing; Genetics of eukaryotes. Biological and molecular evolution; Germ-Line Mutation; Hamartoma Syndrome, Multiple - genetics; Hamartoma Syndrome, Multiple - metabolism; Humans; Male; Medical genetics; Medical sciences; Middle Aged; Mitogen-Activated Protein Kinases - analysis; Mitogen-Activated Protein Kinases - genetics; Models, Genetic; Molecular and cellular biology; Mutation; Patient Selection; Patients; Promoter Regions, Genetic - genetics; Prospective Studies; Proteins; Proto-Oncogene Proteins c-akt - analysis; Proto-Oncogene Proteins c-akt - genetics; PTEN Phosphohydrolase - genetics; PTEN Phosphohydrolase - metabolism; Tumors; Young Adult; Human; Prospective; Evaluation scale; Selection; Genetics; Patient; Mutation

Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome are allelic, defined by germline PTEN mutations, and collectively referred to as PTEN hamartoma tumor syndrome. To date, there are no existing criteria based on large prospective patient cohorts to select patients for PTEN mutation testing....