Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients With Pancreatic Cancer

open access

 Background & Aims

We investigated the prevalence of germline mutations in APC, ATM, BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, STK11, and TP53 in patients with pancreatic cancer.

 Article Outline

1. Materials and Methods
   1. Patients
   2. Patient Sampling Procedure
   3. Next-Generation Sequencing and Bioinformatics
   4. Variant Characterization
   5. Statistical Analysis
2. Results
   1. Patient Selection and Clinical Characteristics
   2. Variant Detection and Characterization
   3. Pathogenic Mutation Carriers
   4. Clinical Characteristics and Mutation Carrier Status
3. Discussion
4. Supplementary Material

Conclusions

A small but clinically important proportion of pancreatic cancer is associated with mutations in known predisposition genes. The heterogeneity of mutations identified in this study shows the value of using a multiple-gene panel in pancreatic cancer.