PALB2 Gene Mutations Identify Susceptibility to DNA Damaging Agents

PALB2 Gene Mutations Identify Susceptibility to DNA Damaging Agents

JHU Ref #: C10869

Unmet Need

Pancreatic cancer is predicted to be the second leading cause of cancer-related death by 2030 (Siegel et al., 2020). However, many patients present with advanced disease, and typical broad-spectrum chemotherapeutic treatments are often insufficient. Precision medicine could help improve therapeutic responses in individualized tumors and patients. Therefore, there is a strong need for correlational biomarkers to be developed to improve drug sensitivity and clinical outcomes.

Value Proposition:

·        Specific biallelic inactivation mutation correlated to drug sensitivity

·        Improves personalized medicine applications for low-survival pancreatic cancer

Technology Description

Researchers at Johns Hopkins have developed a screening scheme to predict responses to DNA-damaging cancer drugs. A mutation in PALB2 in pancreatic cancer was discovered by global genomic sequencing in a human tumor that responded well to this class of chemotherapeutics in a xenograft model. This suggests that PALB2 mutation is a biomarker that biases toward susceptibility to these drugs, and screening for this mutation has resulted in robust personalized medicine applications that suppress cancer growth.

Stage of Development

Pre-clinical-clinical correlation has been demonstrated for this PALB2 mutation; phase 2 clinical trials have established encouraging survival rates in the use of PALB2 mutation screenings for pancreatic cancer personalized medicine.

Data Availability

Data available at the following link: Personalizing cancer treatment in the age of global genomic analyses: PALB2 gene mutations and the response to DNA damaging agents in pancreatic cancer - PubMed (nih.gov)

Publication

Villarroel et al., Personalizing cancer treatment in the age of global genomic analyses: PALB2 gene mutations and the response to DNA damaging agents in pancreatic cancer, Mol Cancer Ther, Jan. 2011, doi: 10.1158/1535-7163.MCT-10-0893