Analysis of the Novel Fanconi Anemia Gene SLX4/FANCP in Familial Breast Cancer Cases

Janine L. Bakker, Saskia E. van Mil, Gerry Crossan, Nelly Sabbaghian, Kim de Leeneer, Bruce Poppe, Muriel Adank, Hans Gille, Henk Verheul, Hanne Meijers-Heijboer, Johan P. de Winter, Kathleen Claes, Marc Tischkowitz, Quinten Waisfisz, J.J.P. Gille

Research output: Contribution to journalArticleAcademicpeer-review

19 Citations (Scopus)


SLX4/FANCP is a recently discovered novel disease gene for Fanconi anemia (FA), a rare recessive disorder characterized by chromosomal instability and increased cancer susceptibility. Three of the 15 FA genes are breast cancer susceptibility genes in heterozygous mutation carriers-BRCA2, PALB2, and BRIP1. To investigate if defects in SLX4 also predispose to breast cancer, the gene was sequenced in a cohort of 729 BRCA1/BRCA2-negative familial breast cancer cases. We identified a single splice site mutation (c.2013+2T>A), which causes a frameshift by skipping of exon 8. We also identified 39 missense variants, four of which were selected for functional testing in a Mitomycin C-induced growth inhibition assay, and appeared indistinguishable from wild type. Although this is the first study that describes a truncating SLX4 mutation in breast cancer patients, our data indicate that germline mutations in SLX4 are very rare and are unlikely to make a significant contribution to !
Original languageEnglish
Pages (from-to)70-73
JournalHuman mutation
Issue number1
Publication statusPublished - 2013

Cite this