title: Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family.
abstract: 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.
authors.affiliation: Laboratory of Cancer Genetics, Department of Clinical Genetics and Biocenter Oulu, University of Oulu, Oulu University Hospital, University of Oulu, Oulu, Finland.
authors.forename: Szilvia
authors.initials: S
authors.lastname: Solyom
authors.forename: Robert
authors.initials: R
authors.lastname: Winqvist
authors.forename: Jenni
authors.initials: J
authors.lastname: Nikkilä
authors.forename: Katrin
authors.initials: K
authors.lastname: Rapakko
authors.forename: Pasi
authors.initials: P
authors.lastname: Hirvikoski
authors.forename: Hannaleena
authors.initials: H
authors.lastname: Kokkonen
authors.forename: Katri
authors.initials: K
authors.lastname: Pylkäs
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D005387:Finland / Q000453:epidemiology; D020022:Genetic Predisposition to Disease; D006801:Humans; D008403:Mass Screening; D017384:Sequence Deletion