Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families

Eur J Hum Genet. 2013 Aug;21(8):883-6. doi: 10.1038/ejhg.2012.268. Epub 2012 Dec 5.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Breast Neoplasms / genetics*
  • DNA Mutational Analysis
  • Family Health
  • Fanconi Anemia / genetics
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics
  • Germ-Line Mutation*
  • Humans
  • Male
  • Ovarian Neoplasms / genetics*
  • Pedigree
  • Recombinases / genetics*

Substances

  • BRCA1 Protein
  • BRCA2 Protein
  • BRCA2 protein, human
  • Recombinases
  • SLX4 protein, human