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PMID: 42065091 Published · epublish English

Pancreatic Adenocarcinoma Associated With a Germline RAD51C Mutation.

ACG case reports journal ·Vol. 13 ·No. 5 ·2026-05-00

Lawrence A, Villanueva I, Parikh J, Mandalia A

Abstract

Pancreatic ductal adenocarcinoma (PDAC) is the third leading cause of cancer-related mortality in the United States, with a 5-year survival of ∼10%-13%. Although 5%-10% of PDAC cases arise from pathogenic germline variants in cancer-predisposition genes, association with RAD51C remains exceedingly rare, with only one prior case reported. We describe a 64-year-old woman who presented with progressive epigastric pain and was found to have a hypermetabolic pancreatic head mass with markedly elevated CA 19-9. Endoscopic biopsy confirmed pancreatic adenocarcinoma (MSI-stable, HER2-negative), staged as cT2N0M0. Comprehensive germline testing identified a pathogenic RAD51C mutation. The patient declined treatment and genetic counseling, electing for palliative care. RAD51C plays a critical role in homologous recombination DNA repair, and its loss may confer sensitivity to platinum-based chemotherapy and poly (ADP-ribose) polymerase inhibitors. This case represents only the second reported RAD51C-associated PDAC and reinforces the importance of universal germline testing to identify hereditary risk and guide therapeutic strategies.

Keywords
RAD51C mutation genetic testing hereditary cancer syndrome homologous recombination deficiency pancreatic adenocarcinoma
Article Info
Journal
ACG case reports journal
Abbr.
ACG Case Rep J
ISSN
2326-3253
Published
2026-05-00
Language
English
Country/Region
United States
NLM ID
101638398
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