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

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 ====== Cancer risk estimates for heterozygous carriers: ======
-Lifetime breast cancer risk (females): ~35–60%
-Relative risk: ~5-fold compared with the general population
+* Lifetime breast cancer risk (females): ~35–60%
-Tumor phenotype: Enrichment of triple-negative breast cancer among PALB2-associated breast cancers<ref name=":3" /><ref name=":15" />
+* Relative risk: ~5-fold compared with the general population
+* Tumor phenotype: Enrichment of triple-negative breast cancer among PALB2-associated breast cancers<ref name=":3" /><ref name=":15" />
+====== Biallelic State (Compound Heterozygous or Homozygous Pathogenic Variants) ======
+Biallelic pathogenic variants in PALB2 result in Fanconi anemia subtype N (FANCN), a severe genomic instability disorder characterized by growth retardation, congenital malformations, skeletal abnormalities, hearing loss, intellectual disability, progressive bone marrow failure, anemia, and increased susceptibility to pediatric cancers, particularly acute leukemia in early childhood<ref name=":13" /><ref name=":15" /><ref>Tischkowitz M, Xia B. PALB2/FANCN: recombining cancer and Fanconi anemia. Cancer Res. 2010;70(19):7353–7359</ref>.
+====== Incidence ======
+The estimated population frequency of pathogenic PALB2 variants is approximately 0.1% <ref name=":15" /><ref name=":5" />.
+====== Summary of Cancer Risks in Heterozygous Carriers ======
+Heterozygous pathogenic variants in PALB2 are associated with:
+* Breast cancer risk: ~33–53%, with some studies estimating risks up to 60%
+* Pancreatic cancer risk: Increased relative to the general population
+* Ovarian cancer risk: Moderately increased
+* Breast cancer subtype: Enrichment of triple-negative breast cancer<ref name=":3" /><ref name=":8" />
 === PALB2 Related Cancer Predisposition Syndrome: ===