BRCA1 Mutation of the Ampulla of Vater Cancer: A Case Report and Literature Review

1. Abstract Ampulla of Vater cancer typically has a better prognosis than other periampullary cancers, and common mutations found in ampullary cancer are TP53, KRAS, and APC. We report on a case of ampullary cancer with unusually rapid progression, which led to the patients death just 5 months after diagnosis. Our analysis of the patients tumor using NGS revealed BRCA1 and PIK3CA mutations, which are infrequent in ampullary cancers. We speculate that these rare mutations may have contributed to the patients rapid deterioration and insensitivity to chemotherapy