Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies
by
Angela Toss 1,*, Marta Venturelli 1, Eleonora Molinaro 1, Stefania Pipitone 1, Elena Barbieri 1, Isabella Marchi 1, Elena Tenedini 2,3, Lucia Artuso 2,3, Sara Castellano 4, Marco Marino 3, Enrico Tagliafico 2,3, Elisabetta Razzaboni 1, Elisabetta De Matteis 5, Stefano Cascinu 1 and Laura Cortesi 1
Angela Toss 1,*, Marta Venturelli 1, Eleonora Molinaro 1, Stefania Pipitone 1, Elena Barbieri 1, Isabella Marchi 1, Elena Tenedini 2,3, Lucia Artuso 2,3, Sara Castellano 4, Marco Marino 3, Enrico Tagliafico 2,3, Elisabetta Razzaboni 1, Elisabetta De Matteis 5, Stefano Cascinu 1 and Laura Cortesi 1
1
Department of Oncology and Hematology, University Hospital of Modena, 41124 Modena, Italy
2
Centre for Genome Research, University of Modena and Reggio Emilia, 41124 Modena, Italy
3
Clinical Genomics Laboratory, Department of Laboratory Medicine and Pathology, University Hospital of Modena, 41124, Modena, Italy
4
Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, 41124 Modena, Italy
5
Department of Oncology, Vito Fazzi Hospital, 73100 Lecce, Italy
*
Author to whom correspondence should be addressed.
Cancers 2019, 11(2), 193; https://doi.org/10.3390/cancers11020193
Received: 29 December 2018 / Revised: 3 February 2019 / Accepted: 5 February 2019 / Published: 7 February 2019
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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Keywords:
BRCA genes; pancreatic cancer; genetic testing; hereditary cancer; homologous recombination
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MDPI and ACS Style
Toss, A.; Venturelli, M.; Molinaro, E.; Pipitone, S.; Barbieri, E.; Marchi, I.; Tenedini, E.; Artuso, L.; Castellano, S.; Marino, M.; Tagliafico, E.; Razzaboni, E.; De Matteis, E.; Cascinu, S.; Cortesi, L. Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies. Cancers 2019, 11, 193.
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