Article
Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.
Genes, chromosomes & cancer - 1 May 2013
Wark Landon, Novak David, Sabbaghian Nelly, Amrein Lilian, Jangamreddy Jaganmohan R, Cheang Mary, Pouchet Carly, Aloyz Raquel, Foulkes William D, Mai Sabine, Tischkowitz Marc
Abstract excerpt
PALB2/FANCN is a BRCA1- and BRCA2-interacting Fanconi Anemia (FA) protein crucial for key BRCA2 genome caretaker functions. Heterozygous germline mutations in PALB2 predispose to breast cancer and biallelic mutations cause FA. FA proteins play a critical role in the telomere maintenance pathway, with telomeric shortening observed in FA cells. Less is known about telomere maintenance in the heterozygous state....
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