GTS5:PALB2-related cancer predisposition syndrome (PALB2): Difference between revisions

PALB2 related cancer predisposition syndrome is an autosomal dominant hereditary cancer susceptibility syndrome caused by heterozygous pathogenic or likely pathogenic germline variants in ''PALB2'' (Partner of BRCA2), a tumor suppressor gene that encodes a critical mediator of homologous recombination mediated DNA double strand break repair through its interaction with BRCA2<ref name=":0">Xia B, et al. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell. 2006;22:719–729.</ref><ref name=":1">Sy SMH, Huen MSY, Chen J. PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc Natl Acad Sci USA. 2009;106:7155–7160.</ref>. The syndrome is primarily associated with a substantially increased lifetime risk of breast cancer, with cumulative risk estimates approaching those observed in ''BRCA2'' carriers in some families<ref name=":2">Antoniou AC, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371:497–506.</ref><ref name=":3">Yang X, et al. Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families. J Clin Oncol. 2020;38:674–685.</ref>