A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands
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....
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| Published in | American journal of human genetics Vol. 88; no. 1; pp. 42 - 56 |
|---|---|
| Main Authors | , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Cambridge, MA
Elsevier Inc
07.01.2011
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
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| Abstract | 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. To address these issues, we conducted a multicenter prospective study in which 3042 probands satisfying relaxed CS clinical criteria were accrued. PTEN mutation scanning, including promoter and large deletion analysis, was performed for all subjects. Pathogenic mutations were identified in 290 individuals (9.5%). To evaluate clinical phenotype and PTEN genotype against protein expression, we performed immunoblotting (PTEN, P-AKT1, P-MAPK1/2) for a patient subset (n = 423). In order to obtain an individualized estimation of pretest probability of germline PTEN mutation, we developed an optimized clinical practice model to identify adult and pediatric patients. For adults, a semiquantitative score—the Cleveland Clinic (CC) score—resulted in a well-calibrated estimation of pretest probability of PTEN status. Overall, decreased PTEN protein expression correlated with PTEN mutation status; decreasing PTEN protein expression correlated with increasing CC score (p < 0.001), but not with the National Comprehensive Cancer Network (NCCN) criteria (p = 0.11). For pediatric patients, we identified highly sensitive criteria to guide PTEN mutation testing, with phenotypic features distinct from the adult setting. Our model improved sensitivity and positive predictive value for germline PTEN mutation relative to the NCCN 2010 criteria in both cohorts. We present the first evidence-based clinical practice model to select patients for genetics referral and PTEN mutation testing, further supported biologically by protein correlation. |
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| AbstractList | 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. To address these issues, we conducted a multicenter prospective study in which 3042 probands satisfying relaxed CS clinical criteria were accrued.
PTEN
mutation scanning, including promoter and large deletion analysis, was performed for all subjects. Pathogenic mutations were identified in 290 individuals (9.5%). To evaluate clinical phenotype and
PTEN
genotype against protein expression, we performed immunoblotting (PTEN, P-AKT1, P-MAPK1/2) for a patient subset (n = 423). In order to obtain an individualized estimation of pretest probability of germline
PTEN
mutation, we developed an optimized clinical practice model to identify adult and pediatric patients. For adults, a semiquantitative score—the Cleveland Clinic (CC) score—resulted in a well-calibrated estimation of pretest probability of
PTEN
status. Overall, decreased PTEN protein expression correlated with
PTEN
mutation status; decreasing PTEN protein expression correlated with increasing CC score (p < 0.001), but not with the National Comprehensive Cancer Network (NCCN) criteria (p = 0.11). For pediatric patients, we identified highly sensitive criteria to guide
PTEN
mutation testing, with phenotypic features distinct from the adult setting. Our model improved sensitivity and positive predictive value for germline
PTEN
mutation relative to the NCCN 2010 criteria in both cohorts. We present the first evidence-based clinical practice model to select patients for genetics referral and
PTEN
mutation testing, further supported biologically by protein correlation. 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. To address these issues, we conducted a multicenter prospective study in which 3042 probands satisfying relaxed CS clinical criteria were accrued. PTEN mutation scanning, including promoter and large deletion analysis, was performed for all subjects. Pathogenic mutations were identified in 290 individuals (9.5%). To evaluate clinical phenotype and PTEN genotype against protein expression, we performed immunoblotting (PTEN, P-AKT1, P-MAPK1/2) for a patient subset (n = 423). In order to obtain an individualized estimation of pretest probability of germline PTEN mutation, we developed an optimized clinical practice model to identify adult and pediatric patients. For adults, a semiquantitative score-the Cleveland Clinic (CC) score-resulted in a well-calibrated estimation of pretest probability of PTEN status. Overall, decreased PTEN protein expression correlated with PTEN mutation status; decreasing PTEN protein expression correlated with increasing CC score (p < 0.001), but not with the National Comprehensive Cancer Network (NCCN) criteria (p = 0.11). For pediatric patients, we identified highly sensitive criteria to guide PTEN mutation testing, with phenotypic features distinct from the adult setting. Our model improved sensitivity and positive predictive value for germline PTEN mutation relative to the NCCN 2010 criteria in both cohorts. We present the first evidence-based clinical practice model to select patients for genetics referral and PTEN mutation testing, further supported biologically by protein correlation.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. To address these issues, we conducted a multicenter prospective study in which 3042 probands satisfying relaxed CS clinical criteria were accrued. PTEN mutation scanning, including promoter and large deletion analysis, was performed for all subjects. Pathogenic mutations were identified in 290 individuals (9.5%). To evaluate clinical phenotype and PTEN genotype against protein expression, we performed immunoblotting (PTEN, P-AKT1, P-MAPK1/2) for a patient subset (n = 423). In order to obtain an individualized estimation of pretest probability of germline PTEN mutation, we developed an optimized clinical practice model to identify adult and pediatric patients. For adults, a semiquantitative score-the Cleveland Clinic (CC) score-resulted in a well-calibrated estimation of pretest probability of PTEN status. Overall, decreased PTEN protein expression correlated with PTEN mutation status; decreasing PTEN protein expression correlated with increasing CC score (p < 0.001), but not with the National Comprehensive Cancer Network (NCCN) criteria (p = 0.11). For pediatric patients, we identified highly sensitive criteria to guide PTEN mutation testing, with phenotypic features distinct from the adult setting. Our model improved sensitivity and positive predictive value for germline PTEN mutation relative to the NCCN 2010 criteria in both cohorts. We present the first evidence-based clinical practice model to select patients for genetics referral and PTEN mutation testing, further supported biologically by protein correlation. 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. To address these issues, we conducted a multicenter prospective study in which 3042 probands satisfying relaxed CS clinical criteria were accrued. PTEN mutation scanning, including promoter and large deletion analysis, was performed for all subjects. Pathogenic mutations were identified in 290 individuals (9.5%). To evaluate clinical phenotype and PTEN genotype against protein expression, we performed immunoblotting (PTEN, P-AKT1, P-MAPK1/2) for a patient subset (n = 423). In order to obtain an individualized estimation of pretest probability of germline PTEN mutation, we developed an optimized clinical practice model to identify adult and pediatric patients. For adults, a semiquantitative score—the Cleveland Clinic (CC) score—resulted in a well-calibrated estimation of pretest probability of PTEN status. Overall, decreased PTEN protein expression correlated with PTEN mutation status; decreasing PTEN protein expression correlated with increasing CC score (p < 0.001), but not with the National Comprehensive Cancer Network (NCCN) criteria (p = 0.11). For pediatric patients, we identified highly sensitive criteria to guide PTEN mutation testing, with phenotypic features distinct from the adult setting. Our model improved sensitivity and positive predictive value for germline PTEN mutation relative to the NCCN 2010 criteria in both cohorts. We present the first evidence-based clinical practice model to select patients for genetics referral and PTEN mutation testing, further supported biologically by protein correlation. 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. To address these issues, we conducted a multicenter prospective study in which 3042 probands satisfying relaxed CS clinical criteria were accrued. PTEN mutation scanning, including promoter and large deletion analysis, was performed for all subjects. Pathogenic mutations were identified in 290 individuals (9.5%). To evaluate clinical phenotype and PTEN genotype against protein expression, we performed immunoblotting (PTEN, P-AKT1, P-MAPK1/2) for a patient subset (n = 423). In order to obtain an individualized estimation of pretest probability of germline PTEN mutation, we developed an optimized clinical practice model to identify adult and pediatric patients. For adults, a semiquantitative score - the Cleveland Clinic (CC) score - resulted in a well-calibrated estimation of pretest probability of PTEN status. Overall, decreased PTEN protein expression correlated with PTEN mutation status; decreasing PTEN protein expression correlated with increasing CC score (p < 0.001), but not with the National Comprehensive Cancer Network (NCCN) criteria (p = 0.11). For pediatric patients, we identified highly sensitive criteria to guide PTEN mutation testing, with phenotypic features distinct from the adult setting. Our model improved sensitivity and positive predictive value for germline PTEN mutation relative to the NCCN 2010 criteria in both cohorts. We present the first evidence-based clinical practice model to select patients for genetics referral and PTEN mutation testing, further supported biologically by protein correlation. [PUBLICATION ABSTRACT] |
| Author | Mester, Jessica Eng, Charis Yang, Yiran Rybicki, Lisa A. Milas, Kresimira Remzi, Berna Pederson, Holly Peterson, Charissa Orloff, Mohammed S. Tan, Min-Han Chen, Jin-Lian |
| AuthorAffiliation | 4 Department of Quantitative Health Sciences, Cleveland Clinic, Cleveland, OH 44195, USA 9 Department of Genetics and CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH 44106, USA 8 Stanley Shalom Zielony Institute of Nursing Excellence, Cleveland Clinic, Cleveland, OH 44195, USA 5 Thyroid Cancer Center, Endocrinology and Metabolism Institute, Cleveland Clinic, Cleveland, OH 44195, USA 6 High Risk Breast Cancer Clinic, Women's Health and Obstetrics Institute, Cleveland Clinic, Cleveland, OH 44195, USA 3 Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA 1 Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA 7 Department of Dermatology, Cleveland Clinic, Cleveland, OH, 44195, USA 2 Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA |
| AuthorAffiliation_xml | – name: 9 Department of Genetics and CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH 44106, USA – name: 1 Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA – name: 4 Department of Quantitative Health Sciences, Cleveland Clinic, Cleveland, OH 44195, USA – name: 8 Stanley Shalom Zielony Institute of Nursing Excellence, Cleveland Clinic, Cleveland, OH 44195, USA – name: 6 High Risk Breast Cancer Clinic, Women's Health and Obstetrics Institute, Cleveland Clinic, Cleveland, OH 44195, USA – name: 2 Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA – name: 5 Thyroid Cancer Center, Endocrinology and Metabolism Institute, Cleveland Clinic, Cleveland, OH 44195, USA – name: 3 Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA – name: 7 Department of Dermatology, Cleveland Clinic, Cleveland, OH, 44195, USA |
| Author_xml | – sequence: 1 givenname: Min-Han surname: Tan fullname: Tan, Min-Han organization: Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA – sequence: 2 givenname: Jessica surname: Mester fullname: Mester, Jessica organization: Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA – sequence: 3 givenname: Charissa surname: Peterson fullname: Peterson, Charissa organization: Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA – sequence: 4 givenname: Yiran surname: Yang fullname: Yang, Yiran organization: Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA – sequence: 5 givenname: Jin-Lian surname: Chen fullname: Chen, Jin-Lian organization: Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA – sequence: 6 givenname: Lisa A. surname: Rybicki fullname: Rybicki, Lisa A. organization: Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA – sequence: 7 givenname: Kresimira surname: Milas fullname: Milas, Kresimira organization: Thyroid Cancer Center, Endocrinology and Metabolism Institute, Cleveland Clinic, Cleveland, OH 44195, USA – sequence: 8 givenname: Holly surname: Pederson fullname: Pederson, Holly organization: High Risk Breast Cancer Clinic, Women's Health and Obstetrics Institute, Cleveland Clinic, Cleveland, OH 44195, USA – sequence: 9 givenname: Berna surname: Remzi fullname: Remzi, Berna organization: Department of Dermatology, Cleveland Clinic, Cleveland, OH, 44195, USA – sequence: 10 givenname: Mohammed S. surname: Orloff fullname: Orloff, Mohammed S. organization: Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA – sequence: 11 givenname: Charis surname: Eng fullname: Eng, Charis email: engc@ccf.org organization: Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23783180$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/21194675$$D View this record in MEDLINE/PubMed |
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| Snippet | Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome are allelic, defined by germline PTEN mutations, and collectively referred to as PTEN hamartoma... Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome are allelic, defined by germline PTEN mutations, and collectively referred to as PTEN hamartoma... |
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| SubjectTerms | 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 |
| Title | A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands |
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