This gene encodes a protein that may
function in tumor suppression. This protein binds to and colocalizes with the
breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits
the stable intranuclear localization and accumulation of BRCA2. It also
enables the recombinational repair and checkpoint functions of BRCA2.
Genetic variations in PALB2 are associated
with breast cancer susceptibility.
Defects in PALB2 are the cause of Fanconi
anemia complementation group N (FANCN)
(see Fanconi Anemia genes)
Somatic PALB2 point mutations are rare.
References (open access):
A PALB2 mutation associated with high risk
of breast cancer. Southey MC, Teo ZL, Dowty JG, Odefrey FA, Park DJ,
Tischkowitz M, Sabbaghian N, Apicella C, Byrnes GB, Winship I, Baglietto L,
Giles GG, Goldgar DE, Foulkes WD, Hopper JL; kConFab for the Beast Cancer
Family Registry. Breast Cancer Res. 2010;12(6):R109.