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Case Report

Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer

1
Genetic and Cancer Medical Laboratory HCL-CLB, Hospices Civils de Lyon, 69008 Lyon, France
2
Institute for Advanced Biosciences, University Grenoble Alpes, INSERM, CNRS, 38000 Grenoble, France
3
UM GI-DPI, University Hospital Grenoble Alpes, 38000 Grenoble, France
4
Genetics Departement, Hospices Civils de Lyon, 69500 Bron, France
5
Center for Medical Genetics, Alpigène, 69007 Lyon, France
6
Centre Hospitalier Métropole Savoie, Genetics Departement, 73011 Chambery, France
*
Author to whom correspondence should be addressed.
Academic Editor: Andrea Nicolini
Int. J. Mol. Sci. 2022, 23(2), 667; https://doi.org/10.3390/ijms23020667
Received: 8 December 2021 / Revised: 4 January 2022 / Accepted: 6 January 2022 / Published: 8 January 2022
(This article belongs to the Section Molecular Oncology)
PALB2 (partner and localizer of BRCA2), as indicated by its name, is a BRCA2-interacting protein that plays an important role in homologous recombination (HR) and DNA double-strand break (DSB) repair. While pathogenic variants of PALB2 have been well proven to confer an increased risk of breast cancer, data on its involvement in prostate cancer (PrC) have not been clearly demonstrated. We investigated, using targeted next generation sequencing (NGS), a 59-year-old Caucasian man who developed synchronous breast and prostate cancers. This genetic investigation allowed to identify an intragenic germline heterozygous duplication in PALB2, implicating intronic repetitive sequences spanning exon 11. This variant was confirmed by multiplex ligation probe amplification (MLPA), and genomic breakpoints have been identified and characterized at the nucleotide level (c.3114-811_3202-1756dup) using an approach based on walking PCR, long range PCR, and Sanger sequencing. RT-PCR using mRNA extracted from lymphocytes and followed by Sanger sequencing revealed a tandem duplication r.3114_3201dup; p.(Gly1068Glufs * 14). This duplication results in the synthesis of a truncated, and most-likely, non-functional protein. These findings expand the phenotypic spectrum of PALB2 variants and may improve the yield of genetic diagnoses in this field. View Full-Text
Keywords: breast cancer; prostate cancer; PALB2; exon duplication breast cancer; prostate cancer; PALB2; exon duplication
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MDPI and ACS Style

Bouras, A.; Lafaye, C.; Leone, M.; Kherraf, Z.-E.; Martin-Denavit, T.; Fert-Ferrer, S.; Calender, A.; Boutry-Kryza, N. Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer. Int. J. Mol. Sci. 2022, 23, 667. https://doi.org/10.3390/ijms23020667

AMA Style

Bouras A, Lafaye C, Leone M, Kherraf Z-E, Martin-Denavit T, Fert-Ferrer S, Calender A, Boutry-Kryza N. Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer. International Journal of Molecular Sciences. 2022; 23(2):667. https://doi.org/10.3390/ijms23020667

Chicago/Turabian Style

Bouras, Ahmed, Cyril Lafaye, Melanie Leone, Zine-Eddine Kherraf, Tanguy Martin-Denavit, Sandra Fert-Ferrer, Alain Calender, and Nadia Boutry-Kryza. 2022. "Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer" International Journal of Molecular Sciences 23, no. 2: 667. https://doi.org/10.3390/ijms23020667

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