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Germinal BRCA1-2 pathogenic variants (gBRCA1-2pv) and pancreatic cancer: epidemiology of an Italian patient cohort  (2021)

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
Title:
Germinal BRCA1-2 pathogenic variants (gBRCA1-2pv) and pancreatic cancer: epidemiology of an Italian patient cohort
Year:
2021
Type of item:
Articolo in Rivista
Tipologia ANVUR:
Articolo su rivista
Language:
Inglese
Referee:
No
Name of journal:
ESMO OPEN
ISSN of journal:
2059-7029
N° Volume:
6
Number or Folder:
1
Page numbers:
100032-100040
Keyword:
epidemiology; familial cancer; germline BRCA; pancreatic cancer genetics
Short description of contents:
OBJECTIVE: 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.MATERIALS AND METHODS: 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 chi2 test or Fisher's exact test for qualitative variables and the Student's t-test or Mann-Whitney test for continuous variables, as appropriate.RESULTS: 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 <40 years old, 10.4% among patients 41-50 years old, 9.2% among patients 51-60 years old, 6.7% among patients aged 61-70 years, and 6.2% among patients >70 years old (none out of 94 patients >73 years old). gBRCApv frequency in 845 patients <74 years old was 9%. Patients with/without a family history of potentially BRCA-associated tumors had 14%/6% mutations.CONCLUSION: Based on our findings of a gBRCApv incidence higher than expected in a real-life series of Italian patients with incident PDAC, we recommend screening all PDAC patients <74 years old, regardless of family history and stage, due to the therapeutic implications and cancer risk prevention in patients' relatives.
Product ID:
119509
Handle IRIS:
11562/1037040
Last Modified:
August 16, 2021
Bibliographic citation:
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, Germinal BRCA1-2 pathogenic variants (gBRCA1-2pv) and pancreatic cancer: epidemiology of an Italian patient cohort «ESMO OPEN» , vol. 6 , n. 12021pp. 100032-100040

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