A 67-year-old woman with BRCA 1 mutation associated with pancreatic adenocarcinoma Journal Article


Authors: Lowery, M.; Shah, M. A.; Smyth, E.; Epstein, A.; Segal, A.; Rosengarten, O.; Isacson, R.; Drukker, L.; Keinan, A.; Rachkiman, M.; Reissman, P.; Gabizon, A.; Kelsen, D.; O'Reilly, E. M.
Article Title: A 67-year-old woman with BRCA 1 mutation associated with pancreatic adenocarcinoma
Abstract: 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. © Springer Science+Business Media, LLC 2010.
Keywords: immunohistochemistry; human tissue; treatment outcome; treatment response; aged; gene mutation; cancer recurrence; case report; cisplatin; doxorubicin; fluorouracil; cancer combination chemotherapy; cancer risk; treatment duration; gemcitabine; cancer adjuvant therapy; pancreatic neoplasms; sentinel lymph node biopsy; adenocarcinoma; carboplatin; computer assisted tomography; antineoplastic combined chemotherapy protocols; ca 19-9 antigen; genetic association; weight reduction; cyclophosphamide; steroid; angiosarcoma; brca1 protein; brca2 protein; heterozygote; risk assessment; irinotecan; drug hypersensitivity; dyspnea; oncogene; liver metastasis; folinic acid; tamoxifen; pancreas adenocarcinoma; disease duration; pancreatic adenocarcinoma; mitomycin; oxaliplatin; deoxycytidine; organoplatinum compounds; liver biopsy; intraductal carcinoma; oxygen saturation; germ-line mutation; jew; olaparib; steroid therapy; parp inhibitor; skin test; brca 1; brca 2; hereditary pancreatic cancer; poly adp-ribose inhibitor; epigastric discomfort
Journal Title: Journal of Gastrointestinal Cancer
Volume: 42
Issue: 3
ISSN: 1941-6628
Publisher: Springer  
Date Published: 2011-09-01
Start Page: 160
End Page: 164
Language: English
DOI: 10.1007/s12029-010-9197-1
PROVIDER: scopus
PUBMED: 20711688
DOI/URL:
Notes: --- - "Export Date: 9 December 2011" - "Source: Scopus"
Altmetric
Citation Impact
BMJ Impact Analytics
MSK Authors
  1. Maeve Aine Lowery
    133 Lowery
  2. Andrew Saul Epstein
    157 Epstein
  3. Elizabeth Catherine Smyth
    21 Smyth
  4. Manish Shah
    177 Shah
  5. Eileen O'Reilly
    780 O'Reilly
  6. David P Kelsen
    537 Kelsen