Journal of Gastrointestinal Cancer

, Volume 50, Issue 1, pp 147–150 | Cite as

Gallbladder Adenocarcinoma as the First Manifestation of Germline BRCA1 Mutation

  • Ahmad Al-TaeeEmail author
  • Ammara Gill
  • Suzanne Mahon
  • Jinping Lai
  • Bassel Jallad
Case Report


Gallbladder adenocarcinoma (GBAC) is an uncommon, but highly fatal malignancy that follows an aggressive course and complete remission is rare. Germline mutations in BRCA1 genes have been associated with a significantly increased risk of breast and ovarian cancers as well as other malignancies. Here, we describe the first case of gallbladder adenocarcinoma as the initial presentation of BRCA1 mutation.

Case Presentation

A 47-year-old Caucasian female presented to the clinic with a 2-month history of right upper quadrant abdominal pain and skin discoloration. Past medical history was remarkable for gastroesophageal reflux disease and aneurysmal bone cysts. She had a 20-pack year history of tobacco smoking but quit 15 years ago. Famotidine was the only home medication. Family history was unknown as the patient did not have contact with her parents.

Vital signs were unremarkable, and exam was notable for a thin female patient with a weight of 105 lb (48 kg), scleral icterus,...


Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Patient Consent

Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.


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Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  1. 1.Department of Internal MedicineSaint Louis University School of MedicineSaint LouisUSA
  2. 2.Saint Louis University Cancer CenterSt LouisUSA
  3. 3.Department of PathologyUniversity of FloridaGainesvilleUSA

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