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Title: Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families
Author: Fernández-Rodríguez, Juana
Quiles Vidal, Francisco de Asís
Blanco Guillermo, Ignacio
Teulé-Vega, Àlex
Feliubadaló i Elorza, Maria Lídia
Valle Domínguez, Jesús del
Salinas Masdeu, Mònica
Izquierdo i Font, Àngel Xavier
Darder, Esther
Schindler, Detlev
Capellá, G. (Gabriel)
Brunet, Joan
Lázaro García, Conxi
Pujana Genestar, M. Ángel
Keywords: Càncer
Càncer de mama
Breast cancer
Issue Date: 11-Mar-2012
Publisher: BioMed Central
Abstract: Background: Genes that, when mutated, cause Fanconi anemia or greatly increase breast cancer risk encode for proteins that converge on a homology-directed DNA damage repair process. Mutations in the SLX4 gene, which encodes for a scaffold protein involved in the repair of interstrand cross-links, have recently been identified in unclassified Fanconi anemia patients. A mutation analysis of SLX4 in German or Byelorussian familial cases of breast cancer without detected mutations in BRCA1 or BRCA2 has been completed, with globally negative results. Methods: The genomic region of SLX4, comprising all exons and exon-intron boundaries, was sequenced in 94 Spanish familial breast cancer cases that match a criterion indicating the potential presence of a highly-penetrant germline mutation, following exclusion of BRCA1 or BRCA2 mutations. Results: This mutational analysis revealed extensive genetic variation of SLX4, with 21 novel single nucleotide variants; however, none could be linked to a clear alteration of the protein function. Nonetheless, genotyping 10 variants (nine novel, all missense amino acid changes) in a set of controls (138 women and 146 men) did not detect seven of them. Conclusions: Overall, while the results of this study do not identify clearly pathogenic mutations of SLX4 contributing to breast cancer risk, further genetic analysis, combined with functional assays of the identified rare variants, may be warranted to conclusively assess the potential link with the disease.
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It is part of: BMC Cancer, 2012, vol. 12, num. 84
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ISSN: 1471-2407
Appears in Collections:Articles publicats en revistes (Patologia i Terapèutica Experimental)

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