ArticleFamilial cancer2017
Frequency of germline PALB2 mutations among women with epithelial ovarian cancer.
Article in Familial cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- Molecular and clinical determinants of response and resistance to rucaparib for recurrent ovarian cancer treatment in ARIEL2 (Parts 1 and 2).Nature communications · 2021Trial
- Molecular Subgroups of HRD Positive Ovarian Cancer and Their Prognostic Significance.International journal of molecular sciences · 2024Article
- Pathogenic germline variants in non-BRCA1/2 homologous recombination genes in ovarian cancer: Analysis of tumor phenotype and survival.Gynecologic oncology · 2024Article
- MiR-181a targets STING to drive PARP inhibitor resistance in BRCA- mutated triple-negative breast cancer and ovarian cancer.Cell & bioscience · 2023Article
- Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.Molecular genetics & genomic medicine · 2023Article
- Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes.International journal of environmental research and public health · 2022Review
- GermlineCancers · 2021Article
- Population-based targeted sequencing of 54 candidate genes identifiesJournal of medical genetics · 2021Article
- Recurrent Mutations inCancers · 2021Article
- GermlineObstetrics & gynecology science · 2020Article
- The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.International journal of molecular sciences · 2017Review
- Hereditary pancreatic cancer: related syndromes and clinical perspective.Hereditary cancer in clinical practice · 2017Review
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 2 countries.
Funding
Abstract
Recent studies suggest that mutations in the partner and localizer of BRCA2 (PALB2) gene may predispose to ovarian cancer. It is of importance to clarify the prevalence and penetrance of PALB2 mutations in an unselected population so that clinical recommendations for prevention can be implemented. We evaluated the prevalence of germline mutations in PALB2 among 1421 epithelial ovarian cancer patients and 4300 European controls from the National Heart, Lung, and Blood Institute's Exome Sequencing Project dataset. Clinical information was obtained from medical records and survival status was determined by linkage. PALB2 coding exons were sequenced using next generation sequencing technology. Of the 1421 patients, three (0.21 %) had a germline PALB2 mutation compared to two of the 4300 control subjects (0.05 %). The mean age at diagnosis was 59 years (range 55-62) and all three women died within 2 years of diagnosis. A PALB2 mutation was associated with a four-fold, albeit not significant, increased risk of ovarian cancer (OR = 4.55; 95 % CI 0.76-27.24; P = 0.10). These results suggest that germline PALB2 mutations are rare. The true effect of such mutations on ovarian cancer risk require further study before the clinical relevance of inherited PALB2 mutations is established.
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