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Chronic Pancreatitis-Like Change in BRCA2 Mutation Carriers
Meir Mizrahi1, Jennifer F Tseng, Daniel Wong
1From the Divisions of *Gastroenterology, †Surgical Oncology, and ‡Medical Oncology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA.
Pancreas
|April 5, 2017
Summary
BRCA2 mutation carriers show significantly more chronic pancreatitis-like changes on endoscopic ultrasound (EUS) compared to non-carriers. This suggests a link between BRCA2 mutations and pancreatic changes, impacting early detection strategies.
Area of Science:
- Gastroenterology
- Oncology
- Genetics
Background:
- Pancreatic intraepithelial neoplasia can mimic chronic pancreatitis on endoscopic ultrasound (EUS).
- BRCA2 gene mutations are associated with increased cancer risk, including pancreatic cancer.
Purpose of the Study:
- To investigate the association between BRCA2 mutation carriage and the presence of chronic pancreatitis-like changes on EUS.
- To determine if BRCA2 carriers are more likely to exhibit specific pancreatic abnormalities on EUS.
Main Methods:
- Retrospective study comparing BRCA2 mutation carriers (cases) with matched non-carriers (controls).
- Endoscopic ultrasound (EUS) data, including images and reports, were analyzed using the Rosemont classification.
- Controls were matched 2:1 for sex, EUS date, endoscopist, and echoendoscope.
Main Results:
- BRCA2 carriers had a higher prevalence of solid pancreatic lesions (16.2% vs 1.08%), pancreatic cysts (21.6% vs 6.1%), and chronic pancreatitis-like changes (consistent: 13.5% vs 1%; suggestive: 16.2% vs 2.1%).
- BRCA2 mutation carriers were nearly 25 times more likely to show chronic pancreatitis-like changes after adjusting for confounders.
- The findings were statistically significant (P < 0.005 for all comparisons).
Conclusions:
- Chronic pancreatitis-like changes, as well as solid and cystic pancreatic lesions, are significantly more prevalent in BRCA2 mutation carriers.
- These findings highlight a potential imaging biomarker for identifying individuals at higher risk due to BRCA2 mutations.
- Further research may elucidate the clinical implications of these observed associations.