ArticleScientific reports2015
Whole exome sequencing reveals recurrent mutations in BRCA2 and FAT genes in acinar cell carcinomas of the pancreas.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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Who cites it
62 citing papers in PubMed, 98 citations in OpenAlex.
- Pancreatic Acinar Cell Carcinoma: A Rare Pancreatic Malignancy with Distinct Biology and Emerging Therapeutic Opportunities.Cancers · 2026Review
- Research on the role and mechanism of FAT4 in the development and progression of tumor and non-tumor diseases.Discover oncology · 2026Review
- Giant Pancreatic Acinar Cell Carcinoma: A Case Report and Review of Molecular Pathogenesis and Emerging Therapies.Cureus · 2026Article
- Novel germline and somatic variants in familial and sporadic meningioma genes.NPJ genomic medicine · 2025Article
- Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.Arthritis & rheumatology (Hoboken, N.J.) · 2025Article
- Metastatic pancreatic acinar cell carcinoma withJournal of gastrointestinal oncology · 2025Article
- Survival Outcomes and Genetic Characteristics of Resected Pancreatic Acinar Cell Carcinoma.Annals of surgical oncology · 2025Article
- Pediatric pancreatic acinar cell carcinoma with a non-canonical BRAF-KMT2C fusion and a classic SND1-BRAF fusion: a case report and literature review.BMC pediatrics · 2025Review
- Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.British journal of cancer · 2024Article
- Molecular and Clinical Features of Pancreatic Acinar Cell Carcinoma: A Single-Institution Case Series.Cancers · 2024Article
- Proteomic basis for pancreatic acinar cell carcinoma and pancreatoblastoma as similar yet distinct entities.NPJ precision oncology · 2024Article
- A case of BRCA1-mutated giant pancreatic acinar cell carcinoma successfully treated with modified FOLFIRINOX therapy and radical resection.Clinical journal of gastroenterology · 2024Article
- Familial and hereditary pancreatic cancer in Japan.Familial cancer · 2024Review
- The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review.Familial cancer · 2024Review
- Successful curative treatment for a ruptured pancreatic acinar cell carcinoma by radical resection following modified FOLFIRINOX: a case report and literature review.International cancer conference journal · 2024Article
- Post-therapy emergence of an NBN reversion mutation in a patient with pancreatic acinar cell carcinoma.NPJ precision oncology · 2024Article
- Comprehensive review of pancreatic acinar cell carcinoma: epidemiology, diagnosis, molecular features and treatment.Japanese journal of clinical oncology · 2024Review
- Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2024Article
- FAT4 Mutation is Related to Tumor Mutation Burden and Favorable Prognosis in Gastric Cancer.Current genomics · 2024Article
- A narrative review on rare types of pancreatic cancer: should they be treated as pancreatic ductal adenocarcinomas?Therapeutic advances in medical oncology · 2024Review
2 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors at 4 institutions in 1 country.
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Abstract
Acinar cell carcinoma of the pancreas is a rare tumor with a poor prognosis. Compared to pancreatic ductal adenocarcinoma, its molecular features are poorly known. We studied a total of 11 acinar cell carcinomas, including 3 by exome and 4 by target sequencing. Exome sequencing revealed 65 nonsynonymous mutations and 22 indels with a mutation rate of 3.4 mutations/Mb per tumor, on average. By accounting for not only somatic but also germline mutations with loss of the wild-type allele, we identified recurrent mutations of BRCA2 and FAT genes. BRCA2 showed somatic or germline premature termination mutations, with loss of the wild-type allele in 3 of 7 tumors. FAT1, FAT3, and FAT4 showed somatic or germline missense mutations in 4 of 7 tumors. The germline FAT mutations were with loss of the wild-type allele. Loss of BRCA2 expression was observed in 5 of 11 tumors. One patient with a BRCA2-mutated tumor experienced complete remission of liver metastasis following cisplatinum chemotherapy. In conclusion, acinar cell carcinomas show a distinct mutation pattern and often harbor somatic or germline mutations of BRCA2 and FAT genes. This result may warrant assessment of BRCA2 abrogation in patients with the carcinoma to determine their sensitivity to chemotherapy.
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