ArticleEBioMedicine2020
A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.
Article in EBioMedicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 2 of them syntheses that pooled it.
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Who cites it
31 citing papers in PubMed, 2 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Pooled it
- A systematic review of the prevalence of germline pathogenic variants in patients with pancreatic cancer.Journal of gastroenterology · 2021Pooled it
- Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.United European gastroenterology journal · 2026Article
- Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.Nature communications · 2025Article
- Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer.JAMA oncology · 2024Article
- The Spanish Familial Pancreatic Cancer Registry (PANGENFAM): a decade follow-up of individuals at high-risk for pancreatic cancer.Familial cancer · 2024Article
- Genetic and other risk factors for pancreatic ductal adenocarcinoma (PDAC).Familial cancer · 2024Review
- Article
- POLQ immunostaining behaves as a prognostic factor for pancreatic carcinoma.Frontiers in oncology · 2024Article
- Pancreatic ductal adenocarcinoma: the latest on diagnosis, molecular profiling, and systemic treatments.Frontiers in oncology · 2024Review
- Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan.Hereditary cancer in clinical practice · 2023Article
- Genetic assessment of pathogenic germline alterations in lysosomal genes among Asian patients with pancreatic ductal adenocarcinoma.Journal of translational medicine · 2023Article
- Prevalence and Risk Factors of Germline Pathogenic Variants in Pancreatic Ductal Adenocarcinoma.Cancer research and treatment · 2023Article
- Cystic Fibrosis and Cancer: Unraveling the Complex Role of CFTR Gene in Cancer Susceptibility.Cancers · 2023Review
- Characteristics of familial pancreatic cancer families with additional colorectal carcinoma.Familial cancer · 2023Article
- Circulating Cell-Free Nucleic Acids as Biomarkers for Diagnosis and Prognosis of Pancreatic Cancer.Biomedicines · 2023Review
- Diagnostic rate of germline pathogenic variants in pancreatic ductal adenocarcinoma patients using whole genome sequencing.Frontiers in genetics · 2023Article
- Review
- Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients.Annals of human genetics · 2022Article
- Article
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Authors and funding
20 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 5-year survival rate of patients with pancreatic ductal adenocarcinoma (PDAC) is around 5% due to the fact that the majority of patients present with advanced disease that is treatment resistant. Familial pancreatic cancer (FPC) is a rare disorder that is defined as a family with at least two affected first degree relatives, with an estimated incidence of 4%-10%. The genetic basis is unknown in the majority of families although around 10%-13% of families carry germline mutations in known genes associated with hereditary cancer and pancreatitis syndromes.
methodsPanel sequencing was performed of 35 genes associated with hereditary cancer in 43 PDAC cases from families with an apparent hereditary pancreatic cancer syndrome.
findingsPathogenic variants were identified in 19% (5/26) of PDAC cases from pure FPC families in the genes MLH1, CDKN2A, POLQ and FANCM. Low frequency potentially pathogenic VUS were also identified in 35% (9/26) of PDAC cases from FPC families in the genes FANCC, MLH1, PMS2, CFTR, APC and MUTYH. Furthermore, an important proportion of PDAC cases harboured more than one pathogenic, likely pathogenic or potentially pathogenic VUS, highlighting the multigene phenotype of FPC.
interpretationThe genetic basis of familial or hereditary pancreatic cancer can be explained in 21% of families by previously described hereditary cancer genes. Low frequency variants in other DNA repair genes are also present in 35% of families which may contribute to the risk of pancreatic cancer development.
fundingThis study was funded by the Instituto de Salud Carlos III (Plan Estatal de I + D + i 2013-2016): ISCIII (PI09/02221, PI12/01635, PI15/02101 and PI18/1034) and co-financed by the European Development Regional Fund ''A way to achieve Europe'' (ERDF), the Biomedical Research Network in Cancer: CIBERONC (CB16/12/00446), Red Temática de investigación cooperativa en cáncer: RTICC (RD12/0036/0073) and La Asociación Española contra el Cáncer: AECC (Grupos Coordinados Estables 2016).
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