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familial pancreatic adenocarcinoma

Wednesday 12 November 2014

familial pancreatic cancer

Familial pancreatic cancer (FPC) represents 9% of PC, and the risk of malignancy in kindred does not appear to be confined to the pancreas. (25313458) Genetic risk factors are believed to play a major role. Approximately 10% of PC is estimated to have familial inheritance.

Subsets of familial pancreatic cancer involve germline cationic trypsinogen or PRSS1 mutations (hereditary pancreatitis), BRCA2 mutations (usually in association with hereditary breast-ovarian cancer syndrome), CDKN2 mutations (familial atypical mole and multiple melanoma), or DNA repair gene mutations (e.g., ATM and PALB2, apart from those in BRCA2). However, the vast majority of familial pancreatic cancer cases have yet to have their genetic underpinnings elucidated, waiting in part for the results of deep sequencing efforts. (24395243)

Several germline mutations have been found to be involved in hereditary forms of PC, including both familial PC (FPC) and PC as one of the manifestations of a hereditary cancer syndrome or other hereditary conditions.

Candidate genes have been described and patients considered for screening programs under research protocols should first be tested for presence of germline mutations in the BRCA2, PALB2 and ATM genes. In specific PC populations, including in Italy, hereditary cancer predisposition genes such as CDKN2A also explain a considerable fraction of FPC. (25152581)

Candidate genes: BRCA2, PALB2, ATM, CDKN2A. (25152581)

See: familial pancreatic cancer

Open References

- Familial pancreatic cancer: genetic advances. Rustgi AK; Genes Dev. 2014 Jan 1;28(1):1-7. doi : 10.1101/gad.228452.113 PMID: 24395243 [Free]