OMIM :  600185

GENECARD : BRCA2

CGAP : 34012

Clinical

• The identification of such high-risk individuals will help clinicians target screening programs and develop preventive interventions with the hope of reducing the mortality of pancreatic cancer in these families. Klein AP, Hruban RH, Brune KA, Petersen GM, Goggins M.

• During the last several years, genetic alterations responsible for syndromes linked with pancreatic cancer have been identified. These genes include BRCA2, p16, PRSS1, STK11, and various mismatch repair genes. Hruban RH, Canto MI, Yeo CJ.
  

DNA Binding

• The protein product of the BRCA2 gene mediates repair of double-strand breaks in DNA.
  Abbott DW, Freeman ML, Holt JT.
  

Oncogenic activation

• The original localization of the BRCA2 gene was aided by its homozygous deletion in a pancreatic carcinoma. Goggins M, Schutte M, Lu J, Moskaluk CA, Weinstein CL, Petersen GM, Yeo CJ, Jackson CE, Lynch HT, Hruban RH, Kern

• These syndromes arise as a result of germline mutations in the BRCA2. Klein AP, Hruban RH, Brune KA, Petersen GM, Goggins M.

• Pancreatic ductal adenocarcinoma is a result of accumulated genetic alterations, including oncogenes such as K-ras, tumor-suppressor genes such as p53, p16 and DPC4 and genome-maintenance genes such as BRCA2. Inoue S, Tezel E, Nakao A.

• BRCA2 is inactivated late in the development of pancreatic intraepithelial neoplasia: evidence and implications. Goggins M, Hruban RH, Kern SE

• Germline mutations in BRCA2 have been shown to predispose to both breast and pancreatic. Hruban RH, Petersen GM, Goggins M, Tersmette AC, Offerhaus GJ, Falatko F, Yeo CJ, Kern SE.
  PMID: 10436789 [PubMed - indexed for MEDLINE]