GTS5:PALB2-related cancer predisposition syndrome (PALB2): Difference between revisions
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- Function: The PALB2 gene at 16p12.1 encodes for a protein that binds to the BRCA2 protein as part of the DNA damage response pathway. More specifically, PALB2 protein is a component of the homologous recombination complex machinery responsible for repairing double-strand DNA breaks. PALB2 functions as a tumor-suppressor in the homologous recombination repair pathway to maintain genome integrity. | - Function: The PALB2 gene at 16p12.1 encodes for a protein that binds to the BRCA2 protein as part of the DNA damage response pathway. More specifically, PALB2 protein is a component of the homologous recombination complex machinery responsible for repairing double-strand DNA breaks. PALB2 functions as a tumor-suppressor in the homologous recombination repair pathway to maintain genome integrity. | ||
- | - In the heterozygous state, germline pathogenic variants in PALB2 predispose carriers to several cancers, commonly including breast, pancreatic, and ovarian cancers, with incomplete penetrance for these cancers. Germline pathogenic variants in PALB2 have also been reported in individuals with prostate, gastric, and colon cancers. | ||
- 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). | |||
==Epidemiology/Prevalence== | ==Epidemiology/Prevalence== | ||
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