A 67-year-old woman with BRCA 1 mutation associated with pancreatic adenocarcinoma.
BACKGROUND
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.


METHODS
Here, we present a case of metastatic pancreatic adenocarcinoma arising in a 67-year-old carrier of a BRCA 1 germline mutation.


CONCLUSIONS
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.
Lowery
Maeve
M
Memorial Sloan-Kettering Cancer Center, New York, NY, USA. lowerym@mskcc.org
Shah
Manish A
MA
Smyth
Elizabeth
E
Epstein
Andrew
A
Segal
Amiel
A
Rosengarten
Ora
O
Isacson
Rut
R
Drukker
Lior
L
Keinan
Anner
A
Rachkiman
Meir
M
Reissman
Petachae
P
Gabizon
Alberto
A
Kelsen
David
D
O'Reilly
Eileen M
EM
D000230:Adenocarcinoma / Q000188:drug therapy / Q000235:genetics* / Q000556:secondary; D000368:Aged; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D019313:BRCA1 Protein / Q000235:genetics*; D002945:Cisplatin / Q000008:administration & dosage; D003841:Deoxycytidine / Q000008:administration & dosage / Q000031:analogs & derivatives; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D016685:Mitomycin / Q000008:administration & dosage; D009944:Organoplatinum Compounds / Q000008:administration & dosage; D000077150:Oxaliplatin; D010190:Pancreatic Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D016896:Treatment Outcome; D000093542:Gemcitabine
D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D009944:Organoplatinum Compounds; D000077150:Oxaliplatin; D003841:Deoxycytidine; D016685:Mitomycin; D002945:Cisplatin; D000093542:Gemcitabine