Document Detail

Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families.
MedLine Citation:
PMID:  23211700     Owner:  NLM     Status:  MEDLINE    
Fanconi anemia is a genetically heterogeneous autosomal recessive disorder characterized by development abnormalities, bone marrow failure, and childhood cancers. Compelling evidence indicates a common genetic basis for FA and breast/ovarian cancer susceptibility. Recently, biallelic germ-line mutations in SLX4 have been demonstrated to cause a previously unknown FA subtype (FA-P). We address the role of SLX4/FANCP in breast/ovarian cancer susceptibility by conducting a comprehensive mutation scanning in 486 index cases from non-BRCA1/BRCA2 multiple-case breast and/or ovarian cancer families (non-BRCA1/2 families) from Spain. We detected one unequivocal loss-of-function mutation (p.Glu1517X). In addition, one missense change (p.Arg372Trp) predicted to be pathogenic by in silico analysis co-segregates with disease in one family. Overall, the study indicates that SLX4 mutation screening will have a very low impact (if any) in the genetic counseling of non-BRCA1/2 families.
Gorka Ruiz de Garibay; Avellaneda Díaz; Belén Gaviña; Atocha Romero; Pilar Garre; Ana Vega; Ana Blanco; Alicia Tosar; Orland Díez; Pedro Pérez-Segura; Eduardo Díaz-Rubio; Trinidad Caldés; Miguel de la Hoya
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-12-05
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-07-18     Completed Date:  2013-10-29     Revised Date:  2014-08-05    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  883-6     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
BRCA1 Protein / genetics
BRCA2 Protein / genetics
Breast Neoplasms / genetics*
DNA Mutational Analysis
Family Health
Fanconi Anemia / genetics
Gene Frequency
Genetic Predisposition to Disease / genetics
Germ-Line Mutation*
Ovarian Neoplasms / genetics*
Recombinases / genetics*
Reg. No./Substance:
0/BRCA1 Protein; 0/BRCA2 Protein; 0/BRCA2 protein, human; 0/Recombinases; EC 3.1.-/SLX4 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the d...
Next Document:  Genetic ancestry inference using support vector machines, and the active emergence of a unique Ameri...