ArticleBreast cancer research and treatment2016
Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family.
Article in Breast cancer research and treatment, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions.European journal of human genetics : EJHG · 2026Review
- BRCA1/2 impact on the development of implant-associated lymphoma in women with breast cancer and textured implants.Blood advances · 2025Article
- Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.Cancers · 2025Article
- Article
- Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data.European journal of human genetics : EJHG · 2022Article
- Identification and Characterization of an Exonic Duplication inInternational journal of molecular sciences · 2022Article
- Review
- Age-Associated ALU Element Instability in White Blood Cells Is Linked to Lower Survival in Elderly Adults: A Preliminary Cohort Study.PloS one · 2017Article
- Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer.Wellcome open research · 2017Article
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
Abstract
purposeMutations in PALB2 have been associated with a predisposition to breast and pancreatic cancers. This study aims to characterize a novel PALB2 exon 13 duplication in a hereditary breast and ovarian cancer family.
methodsThe PALB2 exon 13 duplication in this family was evaluated using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT™) and confirmed by multiplex ligation-dependent probe amplification (MLPA). The duplication breakpoints were determined by long-range PCR and DNA sequencing. The effects of this mutation on mRNA splicing were characterized using RT-PCR, cloning, and DNA sequencing.
resultsThe 5' and 3' breakpoints were mapped to intron 12 and downstream of 3'UTR. The tandem duplication is mediated by Alu elements in these regions. This duplication disrupts normal mRNA splicing and presumably leads to a frameshift and premature protein truncation. This duplication segregates with ovarian and breast cancer in multiple members in this family.
conclusionsOur results indicate that the PALB2 exon 13 duplication is a pathogenic variant. The presence of the PALB2 duplication in the proband affected with high-grade serous ovarian cancer suggests that PALB2 might be associated with a predisposition to ovarian cancer.
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