Germinal BRCA1-2 pathogenic variants (gBRCA1-2pv) and pancreatic cancer: epidemiology of an Italian patient cohort

• Published in: ESMO open 2021-02, Vol.6 (1), p.100032-100032, Article 100032
• Main Authors: Peretti, U., Cavaliere, A., Niger, M., Tortora, G., Di Marco, M.C., Rodriquenz, M.G., Centonze, F., Rapposelli, I.G., Giordano, G., De Vita, F., Stuppia, L., Avallone, A., Ratti, M., Paratore, C., Forti, L.G., Orsi, G., Valente, M.M., Gaule, M., Macchini, M., Carrera, P., Calzavara, S., Simbolo, M., Melisi, D., De Braud, F., Salvatore, L., De Lorenzo, S., Chiarazzo, C., Falconi, M., Cascinu, S., Milella, M., Reni, M.
• Format: Article
• Language: English
• Subjects: Adenocarcinoma - epidemiology; Adenocarcinoma - genetics; Adult; Aged; Aged, 80 and over; BRCA1 Protein - genetics; BRCA2 Protein - genetics; epidemiology; familial cancer; Female; Germ-Line Mutation; germline BRCA; Humans; Italy - epidemiology; Male; Middle Aged; Original Research; pancreatic cancer genetics; Pancreatic Neoplasms - epidemiology; Pancreatic Neoplasms - genetics
• ISSN: 2059-7029; 2059-7029
• DOI: 10.1016/j.esmoop.2020.100032

Germline BRCA1-2 pathogenic variants (gBRCApv) increase the risk of pancreatic cancer and predict for response to platinating agents and poly(ADP-ribose) polymerase inhibitors. Data on worldwide gBRCApv incidence among pancreatic ductal adenocarcinoma (PDAC) patients are sparse and describe a remarkable geographic heterogeneity. The aim of this study is to analyze the epidemiology of gBRCApv in Italian patients. Patients of any age with pancreatic adenocarcinoma, screened within 3 months from diagnosis for gBRCApv in Italian oncologic centers systematically performing tests without any selection. For the purposes of our analysis, breast, ovarian, pancreas, and prostate cancer in a patient's family history was considered as potentially BRCA-associated. Patients or disease characteristics were examined using the χ2 test or Fisher's exact test for qualitative variables and the Student's t-test or Mann–Whitney test for continuous variables, as appropriate. Between June 2015 and May 2020, 939 patients were tested by 14 Italian centers; 492 (52%) males, median age 62 years (range 28-87), 569 (61%) metastatic, 273 (29%) with a family history of potentially BRCA-associated cancers. gBRCA1-2pv were found in 76 patients (8.1%; 9.1% in metastatic; 6.4% in non-metastatic). The gBRCA2/gBRCA1 ratio was 5.4 : 1. Patients with gBRCApv were younger compared with wild-type (59 versus 62 years, P = 0.01). The gBRCApv rate was 17.1% among patients 70 years old (none out of 94 patients >73 years old). gBRCApv frequency in 845 patients