Identification of a large intra-exonic deletion in BRCA2 exon 18 in a pancreatic ductal adenocarcinoma.
Inès DebbabiSophie VacherCindy NeuzilletJérome CrosFrançoise RevillonAmbre PetitalotAnthony TurpinSamantha AntonioElodie GirardCélia DupainMaud KamalPascal HammelIvan BiècheJulien Masliah-PlanchonSandrine M CaputoPublished in: Therapeutic advances in medical oncology (2023)
By 2030, pancreatic cancer will become the second leading cause of cancer-related deaths in the United States and in Europe. The management of patients with advanced pancreatic cancer relies on chemotherapy and poly (ADP-ribose) polymerase inhibitors for patients who carry BRCA1/2 inactivating alterations. Some variants, such as large insertion/deletions (Indels), inactivating BRCA1/2 and therefore of clinical relevance can be hard to detect by next-generation sequencing techniques. Here we report a 47-year-old patient presenting with pancreatic cancer whose tumour harbours a large somatic intra-exonic deletion of BRCA2 of 141 bp. This BRCA2 deletion, located in the C-terminal domain, can be considered as pathogenic and consequently affect tumorigenesis because it is involved in the interaction between the DSS1 protein and DNA. Thanks to the optimized bioinformatics algorithm, this intermediate size deletion in BRCA2 was identified, enabling personalized patient management via the inclusion of the patients in a clinical trial.
Keyphrases
- breast cancer risk
- clinical trial
- case report
- copy number
- end stage renal disease
- ejection fraction
- machine learning
- circulating tumor
- newly diagnosed
- chronic kidney disease
- randomized controlled trial
- peritoneal dialysis
- squamous cell carcinoma
- prognostic factors
- cell free
- binding protein
- genome wide
- patient reported
- phase iii