The identification of BRCA mutations plays a crucial role in the management of hereditary
cancer prevention and treatment. Nonetheless, BRCA-testing in pancreatic cancer (PC) patients is
not universally introduced in clinical practice. A retrospective analysis was conducted, firstly, to
evaluate the rate of BRCA-positive families among those presenting a family history of PC besides
breast and/or ovarian cancer. Secondly, the relationship between BRCA pathogenic variants and PC
risk was evaluated. Finally, the characteristics of PC developed in BRCA families were described.
Among 5143 family trees reporting breast and/or ovarian cancer cases, 392 showed a family history
of PC. A total of 35 families (24.5% selected by the Modena Criteria and 21.3% by the NCCN Criteria)
were positive to BRCA testing. Among the BRCA1 mutations, 36.8% were found within a region
defined by c.3239–c.3917, whilst 43.7% of BRCA2 mutations were located within c.7180–c.8248. This
study confirmed that an increase in the rate of positive tests in families with PC when associated
to breast and/or ovarian tumors. Moreover, this analysis indicated two possible Pancreatic Cancer
Cluster Regions that should be verified in future research. Finally, PC in families with breast and/or
ovarian cancer history, particularly in BRCA families, were diagnosed at younger age and showed
better one-year overall survival.

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