Article
Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle.
Future oncology (London, England) - 1 Jan 2019
Bowles Karla R, Mancini-DiNardo Debora, Coffee Bradford, Cox Hannah C, Qian Yaping, Elias Maria, Singh Nanda, Judkins Thaddeus, Leclair Benoît, Roa Benjamin B
Abstract excerpt
Expanded genetic test utilization to guide cancer management has driven the development of larger gene panels and greater diversity in the patient population pursuing testing, resulting in increased identification of atypical or technically challenging genetic findings. To ensure appropriate patient care, it is critical that genetic tests adequately identify and characterize these findings. We describe genetic...
Topics
- Gene Rearrangement
- Genetic Predisposition to Disease
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Humans
- Mismatch Repair Endonuclease PMS2
- Mosaicism
- Neoplastic Syndromes, Hereditary
- Pseudogenes