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

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 ==Primary Author(s)*==
 Hieu Nguyen, PhD, FACMG
+Parisa Kargaran, PhD
 ==WHO Classification of Disease==
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 - In the compound heterozygous or homozygous state, biallelic pathogenic variants in PALB2 cause Fanconi anemia (FA) subtype N (Complementation Group N - FANCN), which is a severe genomic instability condition characterized by growth retardation, congenital malformations, skeletal abnormalities, hearing loss, intellectual disability, progressive bone marrow failure, anemia, and pediatric cancer susceptibility (acute leukemia in early childhood).
-'''PALB2-Related Cancer Predisposition Syndrome:'''
+'''PALB2 Related Cancer Predisposition Syndrome:'''
-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>Antoniou AC, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371:497–506.</ref><ref>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>
+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>
 ==Epidemiology/Prevalence==
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 <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 name=":2" />Antoniou AC, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371:497–506.
+<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.
 ==Notes==