GRCh38 · COSMIC v94


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Pancreatic acinar cell carcinoma is associated with BRCA2 germline mutations: a case report and literature review.
Paper ID
Kryklyva V, Haj Mohammad N, Morsink FHM, Ligtenberg MJL, Offerhaus GJA, Nagtegaal ID, de Leng WWJ and Brosens LAA
a Department of Pathology , Radboud Institute for Molecular Life Sciences, Radboud university medical center , Nijmegen , The Netherlands.
Cancer biology & therapy, 2019;20(7):949-955
ISSN: 1555-8576
PMID: 31002019 (view at PubMed or Europe PMC)
Acinar cell carcinoma (ACC) is a rare pancreatic neoplasm with dismal prognosis. Insights into the molecular basis of ACC can pave the way for the application of more effective, personalized therapies and detection of patients with hereditary predisposition. Molecular analysis revealed a germline <i>BRCA2</i> (and <i>CHEK2</i>) mutation in a patient with a rare pancreatic ACC with extensive intraductal growth. Somatic loss of the wild-type <i>BRCA2</i> allele in the tumor indicated the causal relationship of ACC with the germline defect. A thorough literature review identified another nine ACCs associated with germline <i>BRCA2</i> mutation and two ACCs associated with germline <i>BRCA1</i> mutation, resulting in a prevalence of <i>BRCA1/2</i> germline mutations in almost 7% of ACCs. Moreover, somatic <i>BRCA1/2</i> alterations are reported in 16% of sporadic ACCs. Overall, about one fifth (22%) of all pancreatic ACCs exhibit BRCA1/2 deficiency. This study underscores the important role of <i>BRCA1/2</i> mutations in pancreatic ACC. All ACC patients should undergo genetic testing for <i>BRCA1/2</i> mutations to identify carriers of pathogenic variants. This will allow to select patients that can benefit from targeted therapies directed against <i>BRCA1/2</i>-deficient tumors and is also crucial as a referral to genetic screening for the relatives of affected individuals carrying germline <i>BRCA1/2</i> alterations. <b>Abbreviations:</b> ACC: acinar cell carcinoma; HBOC: Hereditary Breast and Ovarian Cancer; LOH: loss of heterozygosity; PARP: poly (ADP-ribose) polymerase; PDAC: pancreatic ductal adenocarcinoma; PP: pancreatic panniculitis; SD: standard deviation; WES: whole-exome sequencing.
Paper Status