ArticleHuman genetics2012
Identification of germline genomic copy number variation in familial pancreatic cancer.
Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 30 citations in OpenAlex.
- Inactivation of HIPK2 attenuates KRASJournal of experimental & clinical cancer research : CR · 2024Article
- Copy Number Variations in Pancreatic Cancer: From Biological Significance to Clinical Utility.International journal of molecular sciences · 2023Review
- Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.Journal of the National Cancer Institute · 2022Article
- Integrated Workflow for the Label-Free Isolation and Genomic Analysis of Single Circulating Tumor Cells in Pancreatic Cancer.International journal of molecular sciences · 2022Article
- Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients.Annals of human genetics · 2022Article
- Shall genomic correlation structure be considered in copy number variants detection?Briefings in bioinformatics · 2021Article
- Updated risk factors to inform early pancreatic cancer screening and identify high risk patients.Cancer letters · 2020Article
- An accurate and powerful method for copy number variation detection.Bioinformatics (Oxford, England) · 2019Article
- Germline copy number variations are associated with breast cancer risk and prognosis.Scientific reports · 2017Article
- Rare Germline Copy Number Variations and Disease Susceptibility in Familial Melanoma.The Journal of investigative dermatology · 2016Article
- Genome-wide association studies and epigenome-wide association studies go together in cancer control.Future oncology (London, England) · 2016Article
- The association of copy number variation and percent mammographic density.BMC research notes · 2015Article
- Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition.Human genetics · 2015Article
- Familial pancreatic cancer: challenging diagnostic approach and therapeutic management.Journal of gastrointestinal cancer · 2014Review
- Application of Machine Learning to Development of Copy Number Variation-based Prediction of Cancer Risk.Genomics insights · 2014Article
- Familial pancreatic cancer: genetic advances.Genes & development · 2014Review
- Genome-wide analysis of the role of copy-number variation in pancreatic cancer risk.Frontiers in genetics · 2014Article
- Genetic and molecular alterations in pancreatic cancer: implications for personalized medicine.Medical science monitor : international medical journal of experimental and clinical research · 2013Review
- Prolonged survival and delayed progression of pancreatic intraepithelial neoplasia in LSL-KrasG12D/+;Pdx-1-Cre mice by vitamin E δ-tocotrienol.Carcinogenesis · 2013Article
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Authors and funding
18 authors at 8 institutions in 2 countries.
Funding
Abstract
Adenocarcinoma of the pancreas is a significant cause of cancer mortality, and up to 10 % of cases appear to be familial. Heritable genomic copy number variants (CNVs) can modulate gene expression and predispose to disease. Here, we identify candidate predisposition genes for familial pancreatic cancer (FPC) by analyzing germline losses or gains present in one or more high-risk patients and absent in a large control group. A total of 120 FPC cases and 1,194 controls were genotyped on the Affymetrix 500K array, and 36 cases and 2,357 controls were genotyped on the Affymetrix 6.0 array. Detection of CNVs was performed by multiple computational algorithms and partially validated by quantitative PCR. We found no significant difference in the germline CNV profiles of cases and controls. A total of 93 non-redundant FPC-specific CNVs (53 losses and 40 gains) were identified in 50 cases, each CNV present in a single individual. FPC-specific CNVs overlapped the coding region of 88 RefSeq genes. Several of these genes have been reported to be differentially expressed and/or affected by copy number alterations in pancreatic adenocarcinoma. Further investigation in high-risk subjects may elucidate the role of one or more of these genes in genetic predisposition to pancreatic cancer.
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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.