ArticleFamilial cancer2018
Pancreatic adenocarcinoma with a germline PTEN p.Arg234Gln mutation.
Article in Familial cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Extended spectrum of cancers in PTEN hamartoma tumor syndrome.NPJ precision oncology · 2025Article
- A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.EBioMedicine · 2020Article
- Surveillance of Individuals with a Family History of Pancreatic Cancer and Inherited Cancer Syndromes: A Strategy for Detecting Early Pancreatic Cancers.Diagnostics (Basel, Switzerland) · 2019Review
- Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome.BMC cancer · 2019Article
- Molecular Alterations Associated with DNA Repair in Pancreatic Adenocarcinoma Are Associated with Sites of Recurrence.Journal of gastrointestinal cancer · 2019Article
- PTEN suppresses the inflammation, viability, and motility of AP-AR42J cells by activating the Wnt/β-catenin pathway.RSC advances · 2019Article
- Pancreatic Mixed Acinar-neuroendocrine Carcinoma in a Patient With a GermlineIn vivo (Athens, Greece)Review
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A minor fraction of pancreatic ductal adenocarcinoma (PDAC) develops in association with germline mutations of the genes responsible for inherited cancer syndromes. However, the PDAC that has a germline PTEN mutation has not received much attention. Genome-wide whole exome sequencing was performed on germline and somatic DNA from an 82-year-old woman who had developed a solid pancreatic cancer but did not show characteristic findings of PTEN hamartoma tumor syndromes (PHTS). Histology of the resected pancreatic tumor showed unique PDAC findings of primarily dendriform structures and dense fibrous tissue, accompanied by multiple pancreatic intraepithelial neoplasias in the vicinity. The tumor immunohistochemistry revealed a loss of PTEN expression and overexpression of TP53. Exome sequencing revealed a K-ras mutation (p.Gly12Val). Germline exome sequencing revealed a missense mutation of PTEN (p.Arg234Gln), a rare variant with a reported association with cancer development but not with other PHTS phenotypes. To our knowledge, this is the first report of PDAC associated with a germline PTEN mutation, particularly a rare variant (p.Arg234Gln) with cancer risks.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.