Article
Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases.
Human mutation - 1 Jan 2013
Bakker Janine L, van Mil Saskia E, Crossan Gerry, Sabbaghian Nelly, De Leeneer Kim, Poppe Bruce, Adank Muriel, Gille Hans, Verheul Henk, Meijers-Heijboer Hanne, de Winter Johan P, Claes Kathleen, Tischkowitz Marc, Waisfisz Quinten
Abstract excerpt
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...
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