Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening

Autor: Stephanie V. Blank, Jessica Martineau, Melissa K. Frey, Sarah H. Kim, Rebecca Yee Bassett, Jing-Yi Chern, Emily Dalton
Rok vydání: 2015
Předmět:
Male
Genes
BRCA2
Cohort Studies
Neoplasms
Melanoma
Mismatch Repair Endonuclease PMS2
Adenosine Triphosphatases
Ovarian Neoplasms
education.field_of_study
medicine.diagnostic_test
Medical record
Obstetrics and Gynecology
High-Throughput Nucleotide Sequencing
Nuclear Proteins
Middle Aged
Cadherins
DNA-Binding Proteins
Oncology
Mutation (genetic algorithm)
Colonic Neoplasms
Uterine Neoplasms
Female
MutL Protein Homolog 1
Cohort study
Adult
medicine.medical_specialty
Population
Breast Neoplasms
Antigens
CD
Internal medicine
medicine
Humans
In patient
Genetic Predisposition to Disease
Genetic Testing
education
Genetic testing
Adaptor Proteins
Signal Transducing
Aged
Retrospective Studies
business.industry
Cancer
Prostatic Neoplasms
Retrospective cohort study
medicine.disease
Genes
p53
DNA Repair Enzymes
Immunology
Mutation
business
Zdroj: Gynecologic oncology. 139(2)
ISSN: 1095-6859
Popis: Objective The availability of next-generation sequencing and identification of multiple cancer-related genes has caused a shift away from single gene testing towards multi-gene panel testing for hereditary cancer syndromes. However, the utility of panels in individuals who previously underwent non-informative genetic screening has yet to be evaluated. We aim to evaluate the use of rescreening and results of multi-gene panels in this rescreened population. Methods We reviewed the medical records for patients who had previously undergone genetic testing and then underwent multi-gene panel testing at a single institution between 9/2013 and 11/2014. Results One hundred and twenty-seven patients with prior genetic testing underwent multi-gene panels. One hundred and four patients (82%) had a history of cancer and 118 (93%) had at least one family member with cancer. On primary testing, no pathogenic mutations were detected and 10 patients (8%) were found to have variants of uncertain significance (VUS). On repeat multi-gene panel testing, nine patients (7%) were found to have a pathogenic mutation and 53 patients (42%) were VUS not identified on prior testing. Conclusions Seven percent of patients with non-informative primary testing were found to have a pathogenic mutation with multi-gene panels, suggesting that there is a potential benefit to be gained from rescreening. However, 42% of patients were found to have new VUS with panels, a result that can cause patients anxiety without clear clinical implications.
Databáze: OpenAIRE
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