Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
Donavan T ChengMeera PrasadYvonne ChekalukRyma BenayedJustyna SadowskaAhmet ZehirAijazuddin SyedYan Elsa WangJoshua SomarYirong LiZarina YelskayaDonna WongMark E RobsonKenneth OffitMichael F BergerKhedoudja NafaMarc LadanyiZarina YelskayaPublished in: BMC medical genomics (2017)
This study highlights the importance of the NGS-based gene panel testing approach in comprehensively identifying germline variants contributing to cancer predisposition and simultaneous detection of somatic and germline alterations.
Keyphrases
- copy number
- papillary thyroid
- dna repair
- squamous cell
- palliative care
- loop mediated isothermal amplification
- label free
- real time pcr
- lymph node metastasis
- genome wide
- squamous cell carcinoma
- high throughput
- young adults
- dna damage
- childhood cancer
- single molecule
- locally advanced
- radiation therapy
- oxidative stress
- transcription factor