Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM , MRE11A , RAD50 , NBN , and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy.
Andrea MontoriAldo GermaniMario FerriAnnalisa MilanoTeresa Valentina RanalliMaria PianeEmanuela PilozziPublished in: Biomedicines (2022)
Our data show that the genes involved in the Homologous Recombination (HR) pathway are rarely mutated in LARC; however, given the identification of a missense mutation in RAD 50 in one case of pCR, it could be worth exploring its potential role as a biomarker in larger series.
Keyphrases
- locally advanced
- dna damage response
- dna repair
- rectal cancer
- dna damage
- bioinformatics analysis
- neoadjuvant chemotherapy
- phase ii study
- squamous cell carcinoma
- radiation therapy
- electronic health record
- intellectual disability
- genome wide
- big data
- copy number
- genome wide identification
- machine learning
- wild type
- gene expression
- early stage
- autism spectrum disorder
- real time pcr
- lymph node