PALB2 mutations
The PALB2 (partner and localizer of BRCA2) gene encodes for a nuclear protein which co-localizes with BRCA1/2 and acts as functional bridge between the two proteins providing stability to this complex by preventing proteosomal degradation. Germline truncating mutations in PALB2 gene, which is located on chromosome 16p12, have been identified in approximately 3% of patients with familial pancreatic carcinoma (FPC).
PALB2 mutation carriers in FPC families demonstrated a 10- to 32-fold increased risk for the development of pancreatic cancer depending on the number of affected family members. While some families with PALB2 stop mutations were noted to have a history of breast and pancreatic cancer, breast cancer was not seen in all families. Further studies have identified additional PALB2 mutations in 1–3% of FPC kindred.
References:
- Slater, E. P., Langer, P., et al. (2010). Clin. Genet. 78, 490–494
- Jones, S., Hruban, et al. (2009). Science 324, 217
- Tischkowitz,M.D., Sabbaghian,N., et al. (2009). Gastroenterology 137,1183–1186
