ArticlePloS one2013
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 50 citations in OpenAlex.
- High Prevalence of Non-BRCA Pathogenic Variants and a Recurrent PALB2 Variant in an Argentine Hereditary Breast and Ovarian Cancer Cohort.Cancer medicine · 2026Article
- Genetic testing for hereditary breast and ovarian cancer in the Murcian population using a comprehensive NGS panel.Familial cancer · 2026Article
- Hodgkin lymphoma and Ewing sarcoma in pediatric patient carrying germlineFrontiers in oncology · 2025Article
- Article
- PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.Breast cancer research and treatment · 2022Article
- Resistance to Gemcitabine in Pancreatic Ductal Adenocarcinoma: A Physiopathologic and Pharmacologic Review.Cancers · 2022Review
- Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.Molecular genetics and genomics : MGG · 2022Article
- Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.The Journal of pathology · 2022Article
- Clinical Characteristics of Patients With Pancreatic Cancer and PathogenicJNCI cancer spectrum · 2021Article
- PALB2 upregulation is associated with a poor prognosis in pancreatic ductal adenocarcinoma.Oncology letters · 2021Article
- The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response.Human mutation · 2021Article
- De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer.Familial cancer · 2020Article
- Platinum response characteristics of patients with pancreatic ductal adenocarcinoma and a germline BRCA1, BRCA2 or PALB2 mutation.British journal of cancer · 2020Article
- The Co-existence of ADHD With Autism in Saudi Children: An Analysis Using Next-Generation DNA Sequencing.Frontiers in genetics · 2020Article
- Fanconi Anemia Pathway: Mechanisms of Breast Cancer Predisposition Development and Potential Therapeutic Targets.Frontiers in cell and developmental biology · 2020Review
- Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice.World journal of gastrointestinal oncology · 2019Article
- The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.International journal of molecular sciences · 2017Review
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- Article
- PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.BMC medical genomics · 2017Article
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Authors and funding
23 authors at 15 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. The goal of this study was to determine the prevalence of PALB2 mutations in a population of BRCA1/BRCA2 negative breast cancer patients selected from either a personal or family history of pancreatic cancer.
methods132 non-BRCA1/BRCA2 breast/ovarian cancer families with at least one pancreatic cancer case were included in the study. PALB2 mutational analysis was performed by direct sequencing of all coding exons and intron/exon boundaries, as well as multiplex ligation-dependent probe amplification.
resultsTwo PALB2 truncating mutations, the c.1653T>A (p.Tyr551Stop) previously reported, and c.3362del (p.Gly1121ValfsX3) which is a novel frameshift mutation, were identified. Moreover, several PALB2 variants were detected; some of them were predicted as pathological by bioinformatic analysis. Considering truncating mutations, the prevalence rate of our population of BRCA1/2-negative breast cancer patients with pancreatic cancer is 1.5%.
conclusionsThe prevalence rate of PALB2 mutations in non-BRCA1/BRCA2 breast/ovarian cancer families, selected from either a personal or family pancreatic cancer history, is similar to that previously described for unselected breast/ovarian cancer families. Future research directed towards identifying other gene(s) involved in the development of breast/pancreatic cancer families is required.
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