Gallbladder Adenocarcinoma as the First Manifestation of Germline BRCA1 Mutation
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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.
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.
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Conflict of Interest
The authors declare that they have no conflict of interest.
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.