Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family

Cancer Lett. 2011 Mar 28;302(2):113-8. doi: 10.1016/j.canlet.2010.12.020. Epub 2011 Jan 13.


A portion of familial breast cancer cases are caused by mutations in the same genes that are inactivated in the downstream part of Fanconi anemia (FA) signaling pathway. Here we have assessed the FANCA gene for breast cancer susceptibility by examining blood DNA for aberrations from 100 Northern Finnish breast cancer families using the MLPA method. We identified a novel heterozygous deletion, removing the promoter and 12 exons of the gene in one family. This allele was absent from 124 controls. We conclude that FANCA deletions might contribute to breast cancer susceptibility, potentially in combination with other germline mutations. To our knowledge, this is the first study reporting a large deletion in an upstream FA gene in familial breast cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / genetics*
  • Fanconi Anemia / genetics*
  • Female
  • Finland / epidemiology
  • Genetic Predisposition to Disease*
  • Humans
  • Mass Screening
  • Sequence Deletion*