A 67-Year-Old Woman with BRCA 1 Mutation Associated with Pancreatic Adenocarcinoma

• Published in: Journal of gastrointestinal cancer Vol. 42; no. 3; pp. 160 - 164
• Main Authors: Lowery, Maeve, Shah, Manish A., Smyth, Elizabeth, Epstein, Andrew, Segal, Amiel, Rosengarten, Ora, Isacson, Rut, Drukker, Lior, Keinan, Anner, Rachkiman, Meir, Reissman, Petachae, Gabizon, Alberto, Kelsen, David, O’Reilly, Eileen M
• Format: Journal Article
• Language: English
• Published: Boston Springer US 01.09.2011
• Subjects: Adenocarcinoma - drug therapy; Adenocarcinoma - genetics; Adenocarcinoma - secondary; Aged; Antineoplastic Combined Chemotherapy Protocols - therapeutic use; BRCA1 Protein - genetics; Cancer Research; Cisplatin - administration & dosage; Deoxycytidine - administration & dosage; Deoxycytidine - analogs & derivatives; Female; Gastroenterology; Germ-Line Mutation - genetics; Humans; Internal Medicine; Medicine; Medicine & Public Health; Mgmt. of Complex Cases in GI Oncology; Mitomycin - administration & dosage; Oncology; Organoplatinum Compounds - administration & dosage; Pancreatic Neoplasms - drug therapy; Pancreatic Neoplasms - genetics; Pancreatic Neoplasms - pathology; Radiotherapy; Treatment Outcome; Pancreatic adenocarcinoma; Hereditary pancreatic cancer; BRCA 2; Poly ADP-ribose inhibitor; BRCA 1; PARP inhibitor
• ISSN: 1941-6628; 1941-6636
• DOI: 10.1007/s12029-010-9197-1

Introduction There are approximately 40,000 new cases of pancreatic adenocarcinoma diagnosed in the USA each year. It is estimated that 5–10% of all patients with pancreatic cancer have a first-degree relative with the disease, while up to 20% of cases have a hereditary component. Individuals who carry a germline mutation in the BRCA 1 or 2 genes have an increased lifetime risk of developing pancreatic adenocarcinoma when compared with the general population. Case report Here, we present a case of metastatic pancreatic adenocarcinoma arising in a 67-year-old carrier of a BRCA 1 germline mutation. Discussion In patients with known BRCA 1 or 2 mutation-associated pancreatic adenocarcinoma, the addition of a DNA cross-linking agent such as cisplatin, oxaliplatin, or mitomycin to a standard gemcitabine chemotherapy backbone should be considered. Poly ADP-ribose inhibitors are a novel class of drug, which have demonstrated promising efficacy in trials of BRCA 1 and 2 mutant breast and ovarian cancer, and are currently undergoing prospective evaluation in advanced pancreatic cancer.