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

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 Put your text here <span style="color:#0070C0">(''Instructions: Include a brief general clinical description, diagnostic criteria, and differential diagnosis if applicable. Include disease context relative to other WHO classification categories, i.e. describe any information relevant to the genetic aspects of the disease from all WHO classification books in which the syndrome is described.'')</span>
-- 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 16p12.2 contains 13 exons encoding 1,186 amino acids. The PALB2 protein is a component of the homologous recombination complex machinery that binds to the BRCA2 protein to repair double-strand DNA breaks. PALB2 functions as a tumor-suppressor 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.