Details

Autor(en) / Beteiligte

• Solyom, Szilvia
• Winqvist, Robert
• Nikkilä, Jenni
• Rapakko, Katrin
• Hirvikoski, Pasi
• Kokkonen, Hannaleena
• Pylkäs, Katri

Titel

Screening for large genomic rearrangements in theFANCAgene reveals extensive deletion in a Finnish breast cancer family

Ist Teil von

• Cancer letters, 2011-03, Vol.302 (2), p.113

Ort / Verlag

Clare: Elsevier Limited

Erscheinungsjahr

2011

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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 theFANCAgene 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 thatFANCAdeletions 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.